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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:BBS4-CSNK1G1 (FusionGDB2 ID:HG585TG53944)

Fusion Gene Summary for BBS4-CSNK1G1

check button Fusion gene summary
Fusion gene informationFusion gene name: BBS4-CSNK1G1
Fusion gene ID: hg585tg53944
HgeneTgene
Gene symbol

BBS4

CSNK1G1

Gene ID

585

53944

Gene nameBardet-Biedl syndrome 4casein kinase 1 gamma 1
Synonyms-CK1gamma1
Cytomap('BBS4')('CSNK1G1')

15q24.1

15q22.31

Type of geneprotein-codingprotein-coding
DescriptionBardet-Biedl syndrome 4 proteincasein kinase I isoform gamma-1
Modification date2020031320200313
UniProtAcc

Q96RK4

Q9HCP0

Ensembl transtripts involved in fusion geneENST00000268057, ENST00000395205, 
ENST00000539603, ENST00000542334, 
ENST00000564239, 
Fusion gene scores* DoF score5 X 6 X 3=909 X 10 X 8=720
# samples 59
** MAII scorelog2(5/90*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/720*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BBS4 [Title/Abstract] AND CSNK1G1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBBS4(73028307)-CSNK1G1(64472653), # samples:5
Anticipated loss of major functional domain due to fusion event.BBS4-CSNK1G1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BBS4-CSNK1G1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BBS4-CSNK1G1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
BBS4-CSNK1G1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneCSNK1G1

GO:0018105

peptidyl-serine phosphorylation

25500533


check buttonFusion gene breakpoints across BBS4 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across CSNK1G1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-M7-A725-01ABBS4chr15

73028307

-CSNK1G1chr15

64472653

-
ChimerDB4PRADTCGA-M7-A725-01ABBS4chr15

73028307

+CSNK1G1chr15

64472653

-
ChimerDB4PRADTCGA-M7-A725-01ABBS4chr15

73030680

+CSNK1G1chr15

64480228

-
ChimerDB4PRADTCGA-M7-A725BBS4chr15

73028307

+CSNK1G1chr15

64472653

-


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Fusion Gene ORF analysis for BBS4-CSNK1G1

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-intronENST00000268057ENST00000303032BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
3UTR-intronENST00000268057ENST00000303052BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
3UTR-intronENST00000268057ENST00000607537BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
3UTR-intronENST00000395205ENST00000303032BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
3UTR-intronENST00000395205ENST00000303052BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
3UTR-intronENST00000395205ENST00000607537BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
5CDS-intronENST00000268057ENST00000303032BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
5CDS-intronENST00000395205ENST00000303032BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
5CDS-intronENST00000539603ENST00000303032BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
5CDS-intronENST00000542334ENST00000303032BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
In-frameENST00000268057ENST00000303052BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
In-frameENST00000268057ENST00000607537BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
In-frameENST00000395205ENST00000303052BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
In-frameENST00000395205ENST00000607537BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
In-frameENST00000539603ENST00000303052BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
In-frameENST00000539603ENST00000607537BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
In-frameENST00000542334ENST00000303052BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
In-frameENST00000542334ENST00000607537BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
intron-3CDSENST00000564239ENST00000303052BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
intron-3CDSENST00000564239ENST00000607537BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
intron-intronENST00000539603ENST00000303032BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
intron-intronENST00000539603ENST00000303052BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
intron-intronENST00000539603ENST00000607537BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
intron-intronENST00000542334ENST00000303032BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
intron-intronENST00000542334ENST00000303052BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
intron-intronENST00000542334ENST00000607537BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
intron-intronENST00000564239ENST00000303032BBS4chr15

73028307

+CSNK1G1chr15

64472653

-
intron-intronENST00000564239ENST00000303032BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
intron-intronENST00000564239ENST00000303052BBS4chr15

73030680

+CSNK1G1chr15

64480228

-
intron-intronENST00000564239ENST00000607537BBS4chr15

73030680

+CSNK1G1chr15

64480228

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000542334BBS4chr1573028307+ENST00000303052CSNK1G1chr1564472653-781912434361404322
ENST00000542334BBS4chr1573028307+ENST00000607537CSNK1G1chr1564472653-169712434361452338
ENST00000268057BBS4chr1573028307+ENST00000303052CSNK1G1chr1564472653-78651289411450469
ENST00000268057BBS4chr1573028307+ENST00000607537CSNK1G1chr1564472653-17431289411498485
ENST00000539603BBS4chr1573028307+ENST00000303052CSNK1G1chr1564472653-790313271151488457
ENST00000539603BBS4chr1573028307+ENST00000607537CSNK1G1chr1564472653-178113271151536473
ENST00000395205BBS4chr1573028307+ENST00000303052CSNK1G1chr1564472653-7848127201433477
ENST00000395205BBS4chr1573028307+ENST00000607537CSNK1G1chr1564472653-1726127201481493

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000542334ENST00000303052BBS4chr1573028307+CSNK1G1chr1564472653-0.0008977340.99910223
ENST00000542334ENST00000607537BBS4chr1573028307+CSNK1G1chr1564472653-0.0021848530.99781513
ENST00000268057ENST00000303052BBS4chr1573028307+CSNK1G1chr1564472653-0.0003310890.99966896
ENST00000268057ENST00000607537BBS4chr1573028307+CSNK1G1chr1564472653-0.001960180.9980399
ENST00000539603ENST00000303052BBS4chr1573028307+CSNK1G1chr1564472653-0.0010869420.99891305
ENST00000539603ENST00000607537BBS4chr1573028307+CSNK1G1chr1564472653-0.006458090.99354184
ENST00000395205ENST00000303052BBS4chr1573028307+CSNK1G1chr1564472653-0.0006201510.9993799
ENST00000395205ENST00000607537BBS4chr1573028307+CSNK1G1chr1564472653-0.0034599490.99654007

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Fusion Genomic Features for BBS4-CSNK1G1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for BBS4-CSNK1G1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:73028307/chr15:64472653)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BBS4

Q96RK4

CSNK1G1

Q9HCP0

FUNCTION: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. {ECO:0000269|PubMed:15107855, ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.FUNCTION: Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN. {ECO:0000250, ECO:0000269|PubMed:21680713}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+14161_66416520.0RegionNote=Required for localization to centrosomes
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+14161_66424528.0RegionNote=Required for localization to centrosomes
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+13151_66244348.0RegionNote=Required for localization to centrosomes
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+1416101_134416520.0RepeatNote=TPR 2
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+1416135_168416520.0RepeatNote=TPR 3
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+1416169_201416520.0RepeatNote=TPR 4
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+1416203_235416520.0RepeatNote=TPR 5
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+1416237_269416520.0RepeatNote=TPR 6
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+1416270_303416520.0RepeatNote=TPR 7
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+1416304_337416520.0RepeatNote=TPR 8
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+1416339_371416520.0RepeatNote=TPR 9
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+1416373_408416520.0RepeatNote=TPR 10
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+141667_100416520.0RepeatNote=TPR 1
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+1416101_134424528.0RepeatNote=TPR 2
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+1416135_168424528.0RepeatNote=TPR 3
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+1416169_201424528.0RepeatNote=TPR 4
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+1416203_235424528.0RepeatNote=TPR 5
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+1416237_269424528.0RepeatNote=TPR 6
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+1416270_303424528.0RepeatNote=TPR 7
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+1416304_337424528.0RepeatNote=TPR 8
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+1416339_371424528.0RepeatNote=TPR 9
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+1416373_408424528.0RepeatNote=TPR 10
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+141667_100424528.0RepeatNote=TPR 1
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+1315101_134244348.0RepeatNote=TPR 2
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+1315135_168244348.0RepeatNote=TPR 3
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+1315169_201244348.0RepeatNote=TPR 4
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+1315203_235244348.0RepeatNote=TPR 5
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+131567_100244348.0RepeatNote=TPR 1
TgeneCSNK1G1chr15:73028307chr15:64472653ENST0000030303201144_3150394.0DomainProtein kinase
TgeneCSNK1G1chr15:73028307chr15:64472653ENST0000030303201150_580394.0Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+1416338_519416520.0RegionNote=Required for localization to centrosomes
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+1416338_519424528.0RegionNote=Required for localization to centrosomes
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+1315338_519244348.0RegionNote=Required for localization to centrosomes
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+1315237_269244348.0RepeatNote=TPR 6
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+1315270_303244348.0RepeatNote=TPR 7
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+1315304_337244348.0RepeatNote=TPR 8
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+1315339_371244348.0RepeatNote=TPR 9
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+1315373_408244348.0RepeatNote=TPR 10
TgeneCSNK1G1chr15:73028307chr15:64472653ENST0000030305291244_315369423.0DomainProtein kinase
TgeneCSNK1G1chr15:73028307chr15:64472653ENST0000030305291250_58369423.0Nucleotide bindingATP


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Fusion Gene Sequence for BBS4-CSNK1G1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>9093_9093_1_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000268057_CSNK1G1_chr15_64472653_ENST00000303052_length(transcript)=7865nt_BP=1289nt
AACCGCCGACTTCCGGCCGCGCAGCGGTGGGCTGAGCTAAAATGGCTGAGGAGAGAGTCGCGACGAGAACTCAATTTCCTGTATCTACTG
AGTCTCAAAAACCCCGGCAGAAAAAAGCTCCAGAGTTTCCTATTTTGGAGAAGCAGAACTGGTTGATTCATCTTCATTATATCCGGAAAG
ATTATGAAGCCTGCAAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGGATTGTGTGAATATGCTATCTATGTCCAAGCATTGATAT
TTCGCCTAGAAGGAAATATCCAAGAATCCCTAGAACTCTTCCAGACATGTGCAGTTCTTAGTCCTCAGAGTGCTGATAACCTCAAGCAGG
TGGCCAGATCTTTATTTCTTTTGGGAAAACATAAAGCTGCCATTGAAGTATATAATGAAGCAGCTAAACTCAACCAGAAAGATTGGGAGA
TCAGCCATAACCTAGGAGTTTGCTACATATACCTGAAGCAGTTCAACAAGGCACAAGACCAGTTGCACAATGCCCTGAATCTTAATAGGC
ACGATCTGACTTATATAATGCTGGGGAAGATCCACTTGCTGGAGGGAGACTTGGACAAGGCCATTGAAGTCTACAAGAAAGCAGTGGAGT
TCTCACCAGAAAATACAGAGCTTCTTACAACTTTAGGATTACTCTACTTACAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCA
ATGCACTGACTTATGACCCTACCAACTACAAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCA
CCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATG
TGGCGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCA
TGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGTGG
CTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTGTAACCCTTTAGTAAACCTGA
ACTATGCTGTGCTGCTGTACAACCAGGGCGAGAAGAAGAACGCCCTGGCCCAATATCAGGAGATGGAGAAGAAAGTCAGCCTACTCAAGG
ACAATAGCTCTCTGGAATTTGACTCTGAGGTGGTTAGCTCAACCAATGGAGAGCTGAATGTTGATGATCCCACGGGAGCCCACTCCAATG
CACCAATCACAGCTCATGCCGAGGTGGAGGTAGTGGAGGAAGCTAAGTGCTGCTGTTTCTTTAAGAGGAAAAGGAAGAAGACTGCTCAGC
GCCACAAGTGACCAGTGCCTCCCAGGAGTCCTCAGGCCCTGGGGACTCTGACTCAATTGTACCTGCAGCTCCTGCCATTTCTCATTGGAA
GGGACTCCTCTTTGGGGGAGGGTGGATATCCAAACCAAAAAGAAGAAAACAGATGCCCCCAGAAGGGGCCAGTGCGGGCAGCCAGGGCCT
AGTGGGTCATTGGCCATCTCCGCCTGCCTAAGGCTCTGAGCAGGTCCCAGAGCTGCTGTTCCTCCACTGCTTGCCCATAGGGCTGCCTGG
TTGACTCTCCTTCCCATTGTTTACAGTGAAGGTGTCATTCACAAAAACTCAAGGACTGCTATTCTCCTTCTTCCCCTTAGTTTACTCCTG
GTTTTTACCCCACCCTCAACCCTCTCCAGCATAAAACCTAGTGAGCTAAAGGCTTTGTCTGCAGAAGGAGATCAAGAGGCTGGGGGTAAG
GCCAAGAAGGTAGGAGGAAAATGGCAGACCTGGGCTGGAGAAGAACCTTCTCCGTATCCCAGGTGTGCCTGGCAGTATGGTTTCCTCTTC
CTCTGTGCCTGTGCAGCATTCATCCCAGCTGGCCTTGGGGTTCAGGTTCCTTCTTCCCTCCCTCCTGTGAAGTTACACTGTAGGACACAA
GCTGTGAGCAATCTGCAGTCTACTGTCCCTGTGTGTTGGCGTTCTTAGCTTTTTTGACAAACTCTTTTCTCCAGGTAGTAGGACAATGAA
AATTGTTCTAAGCAAAGGAAAGAAAACTGACTTTGTTGCACTTTTAGTTTTTTTAAAAAAAACAAAAACAAAAACATGGCAGATGCATAT
TGTGTCTGGTTATATTGGGGGTTTTACTTTTACCTGTTTTGAGGGGGATGGGGCCGGCCAAGCCATTCAGAGAGAACATGGGTCCAGAGG
ACATTCTCAGTGGAAAGAGTTTGATCTGCAGCACCCAGAAGAGAAGCCAAACTCGGTGTCATTCTGAGTGAACACTCAGGTTGGCAAGAA
AACATACTTGAATTTTCATTCATCTTCTCAGCAGCTGAAGAATGTCCCTACCAGAGCATCTTGACCTAATCAGCTTACAGTTTGAAAACC
TAGCTCTCCAGAACATGAGATGAGCCAGCCGAGCCAGACTGTGACCAGGAAACAGCTCATCCCAGAGAAGGAGATGCTTAACAAAAAAAA
ATTGAAATTGTTTCCCATGCTGCCAGGGACTTCCAACTAGATAGCCATGTGACGTCCTGGTGACTTGGGGGAAAAATTAGTGATGAAACA
GCCACCACCATATTGCCATTAGTGGAAAAAAAGAGGACAGTGAACCTGCCTTCCACCTGCCAGAGGGACCTCAGGGTGTGGCATTATAGG
GCCAGGAAAAGAAAATCGGTGTATCCTATCTGCCCCAATAGCTGAGCTGTAGCATTTGGGCTGGCCTGCCTTATCAGAAACCAAGCTTAT
GAAGATCTTCTCCCAGCAGGTCCATAGCAGTAGGCTTAGGATGCAGTATATGGGGCCGCATTTAAAAGGAGGGAAAGATTGTTTGGTGCT
GGAACATTCCAGGGAAAAGGAGACTGGAATGAAAGGTCTGAAATTATCTTCTCAATTGGACTCCTTCCAGAAAGGTGGCCGTGCCTCTAA
GCATGTTTTTCCCAGTATGCCCTAGGCCTCCCCCCATGGTGTTTTCATATGAGGTACTACTGTGAAGGATCTGGTTCCTCATTCACTGTT
TGACAAGTCTTTCATGTGTGGAGTTACTCTTCTCATGCCCAATTTTCATTTGAGTTTAGTGGCTTAACCAAACAATGACTCCTCATTCCA
GCGGTGACAGAAGAGAAAGGGTCATTTACATCAGGAAAGAGGTCTTGTATCTGGGAGTAGAGAGCTAACCATGGAGCACAGTGGCTGGTG
GGTGACTTAGTCTGATGGTTTGTGGACCATAGAAGTCTTCACCTCTGGTTTGAGGTGCAGGGCTGTCTTTTGTACTGGAGGGTGTGGGGA
TATTTTCTGATAGTTGCCATTTCTTGAAAAATTCCCTTGATGTACCTTACACAGAGCAGAAATAACATTAACATGGATCAGAGGTACTGG
GCTTCATCTGTTCCATTGGACCTTGGCTAGGGAATATCATTTCACTGGCATCAAACCTGCTTAGCTTATGAAAAGATGGTAATATGTCAT
TTCTATAAATGTTTCTATATATGAAACATAAAGTGGCAGGGAGATACAATATCACACCCCTTCCCCACAAGGACTGTGAATATTGGGATT
TATGTCCTTGCCATTACCTAGTGGTTACAGCCCTATCACTAAAATTTACATCGTTTCTCAGTTGGGATTTGGGCATTGCTAACTTACTGT
ATAGAAAGTTTAACTTTTCCTCACCCCTGTATAGAAAATGCCTTGCCTCTCAAGAGAGGGCAGAGGGGGGGCCAGGTGCAGTGGCTCACG
CCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAAGTGGATCATGTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCC
GTCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCTCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTT
GAGCCTGGGAGGCAGAAGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTAAAAAGAAAA
AAAAAAAAGGGCAGAGGGAAATGGTGGGAATGCCTGGAGCATCCTGGCACTCTATACTCTACTGAGTGCCTCTCTTCAGCCCCTCACCCT
GCTTCCACACACACACACACAAAAGCAAAGGCACTGACCAGCTTGGCTGCAGGGCAAGCTGCCTTGCAGCTGGATTTGCGACTTTTTTTT
TGTCTTAAAATTTTTACTGGATCAGTTGTAGGGGACTGTACTTCCTAAGACACTGTTCTCACCTTCCAACCTCACAAATCTCTTACTAGA
TATTTGGTTTTTATAACAAGGGTAAAGAATCCCAGGTCCCTTTAGCATGCAGAGTAATGGTGATCCCTCCAGAGCCATTGGCACTTCAAA
GTGGTCCCAGACCTGGGAGATTCTGGTGGGATCTTCCTTAAAAATAAGCAAAAAACCTGAGTACCCTAGATGCAATTGGCCATTTGTTTC
AGGCCCATCAGCGAATCAGGGCTCCCTCCTCAACCCTACTGCTACAGTTCCTTAGCTGTATGCCTCAGCCAGATCCTTGGGGTTAGGGCA
TGCACTCGCTGACTGTCCCCACCCATCCACTTGCTCTGTAGTTTCTGAGCTTTCTCCATTTCACAAGTATGGTGCCTAACGATCTTTTTC
TTTAGGATTGATGCAGTTGTTTTTCCTGAAAGCTAACTCAGCATCTATTCATAAAAACCCTTAATAGTATACATTAGGAGTTTTCCCAAG
CTCTACAGTCCCTCAGACATTGCATCCTAAACAGATTTGAGGCACACAGGCCAAGACTCCACCAAGGCATAAATGGTCCCCCCTACTCCC
TTTTGACCAGGGTATCACTTGTGTCTCTGCAGTAAGAGTTGGTCAAGTTGCTCTACGCACCTTGGTGCTTTCCAGAGATCTCACTCCAGA
CTGCCCCCAAGGGTGGATAGAGTATCCTGACAGCCAGTGTGCACTCATGACTGCCTTAATTAACATTCTTCTGCTATTATGGAGCCTGTC
CAGCAATAAACAGGGTCTAGGAAGGTACAAGATTAGCTTCCAGTTAAAATCCCATTTTATATTGGAATGCATGAGCTACAGATGACAGCA
GAGATCCTGAGGTTTCTAGACATGTTGATTGTCTCTTTTTTCTAAATGAACTCCAAGTACTTAGAAAACAGTCCCTGTCCATCAGCCAGA
AAAGGTGACCATCACCCCTAAAGTAATTTCCAAACTTAGTTCAGTGGGAAGATATGCTGGTAGTGCATATTCAGTGTTGATTTTCAGTGC
TAGTAACCACTTTTAATGCCAGAAATATGTAACAATGATAATGTAACGTCAAAGTGGTTACTAAAGATTATAGCCTTAACTTTTTTATGT
AAAAGATAAAATCCATTCCTCCTCCCAGTGAGCAAGCATGGCTTGCATTTCTCAAAAATGAGAACTTCCATGGCAGCCAAGAAAACGTCT
TCTCAGAGGAACTTTCGTTTGATGCATCTCCCAAGCCCACATGCCTCCTGTGTTCCAGCCACCTCTTCCATTTCACATTTAAACCAGCTC
TCCATTCCCATTGAGTTGCCCTAACAACATTGTCTCCAGTGTCAGAACCATATTAAGGTTCGTTTCTCAGATTGGGAGCCTGCAACACCA
TACAGCCAACATTGCCTTTGCCACGCCACTGCCACCATCCCCACCATTGCCCTATGGTGGGCAGATGAATTCCAGAAACCCTCAGGGAGC
CAGGATAATTAGGCAACCCATCTGAATTGGCCACGTAAGTGACAGGCACTTATCTCTCGGGTTCTTGCTTTTGCAGACTCCAGGGAAGTC
CTGTCTAGAGGTCGATGGCAGAGACTCCTAGTCTTTCCCATGAGGGGTTGATAGGAATCAAATTGGGATTCCTTTGGCTTTGGGTTTTGT
TTTTTTGTTGTTGTTTTTGGTTTTCAGTTTGTTTTTTGGTGTATGGGGGGTGATTTTGTTTCTGAATAAGAAAAAGAAGAGGCAACCATG
GCCCTTATGTGGGTTTATCCTTTTTGAGCAATGTTTTAGCCACAAGTAAGGAATCTTGAAAGTCTTTTGTCCAGCAAGCAGTCTTAAAAA
TGTTTTTCCTAACTCCTTTTGCAGGTGACTAAGTACAAAAAAATAGTTTTCTCATTGTATTCAAAATAGTGAGTAGGTTCCCTGGATAAT
ACACAGTGGTAGTTGACATATTTTCTCAAAACACAACCAGAAAACCCACTTCCGGTATTTGTAAATCACCTTTCAAGGGAAAAAGTGAAC
ACGTATTCCTTGTATTTCTAGTTTGATTACCAAACCTGATGTTACAAAGAAACCTCCGTTCTGTAGACAGAATTTCTTTTATTTTTCTTC
TTTTACTCCTCACAATCACTTTCCCAGTGCCATCACCATCTATAAGGTCTCAGAGCAGAGGATTATTCATGGTAATAAGTGGGGGTGTGG
TGCAGCCATTCCAGTAACACCCACAAGAGGACAGCTGTTCTGAATGTCCCCACCCACCCCTCTTTCAGTACAGGTGAGACATTTTCAGTT
CATGAGCTCCAGACCAAATCCCAGGCCAGCCCTTGCACCAAAAGCCTTTTTTAGAAGGCTTATCAGTCTATTAGGAATGTCTCAGGAAAG
ATGAGCCATTTCTTTGGGGAGAAATATATTTACAGATGGAAGTGTGTGACTGCGTGTCTGTGTGTGTGTGTGGTGTGTGTGCGCACGTGA
GTGCGTGTGTTCATCTATGTGCATTTCACTTCCATAAAGACCCAGCCCAAGCTGCTGGGAACCATGTGTTCCTGAGTATTCTCAGAGGTT
AAACAAGTGACAAGTGAGCTTCTGAAATTAGTGTCTCAGCAAGCTGGCTTTAGGAATGAGCCCCATTTTATCAAGCAGAGAAAAAAAATA
ACAGCAGAAAAGATAAAGATAAACCAAAAATATATACCCCCCAATGGAAAATAATGTTGATTCAGCAATTCCCATAGGATGTATTACATG
CTCTAATTTATTATATTATTATTTATCTGTCTTTGATCTTTGCCCATTGTACTCTTAAAAAGATGTTGGGATGTTGATTGCGATTTTTAA
ACAACTAGATAATGTATAAATCAGCAGTGGAAATCAGTTTTAATGTGTGGATGTGTCTGATTATTGTTAAATGCCTCTTTTTTTACTTTT
TTTTTTTTTAGATGTATAATGTTTCATAAACCCTGGCACTGGTCACAAAGCTCAGCTGTGAAAATGAAATTTGTAGTATTTTTAAACATG
AATGTCAATTTCAAGTGTATTTGAAATGGTTCCTCCAGGAGAGATATTTGTGCACCATTAGGAAAATCTTCTCTGCAGAGGAAGTAGCCT
TCTTTGGAGAAAATGGAAAATGGGTTCTGATATGTGATCTCAGAGTAGCCCATTTCCTAGGGCACCATGGAAAACACAAATGTGATCTTT
AAGTATACCTCTTCCCCAGTTTGGGGAGGAAAGGACTCAGTTTGCACCCTTTTTGTATGTAAAATAAAATGTCTTACCTTTCTTGGCTAC
TTCTGCTTGTTTGGTTGGTTGATTGGTTTGTCTGTTTTTAATCTCCCTCGGCTCATTTGTAATTAACAATCTAGCTAGGACTAACTTTGA
TGCGATTCAAGACTCCTGTGAACAAAAATAATTTGGCATTCTTGTTTCATTCCTTGGATTAAATATTGTCTTCTCCTGTGAGTCACTTCA

>9093_9093_1_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000268057_CSNK1G1_chr15_64472653_ENST00000303052_length(amino acids)=469AA_BP=416
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELF
QTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLL
EGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESP
PLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRA
YAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAHAEVEVVEE

--------------------------------------------------------------
>9093_9093_2_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000268057_CSNK1G1_chr15_64472653_ENST00000607537_length(transcript)=1743nt_BP=1289nt
AACCGCCGACTTCCGGCCGCGCAGCGGTGGGCTGAGCTAAAATGGCTGAGGAGAGAGTCGCGACGAGAACTCAATTTCCTGTATCTACTG
AGTCTCAAAAACCCCGGCAGAAAAAAGCTCCAGAGTTTCCTATTTTGGAGAAGCAGAACTGGTTGATTCATCTTCATTATATCCGGAAAG
ATTATGAAGCCTGCAAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGGATTGTGTGAATATGCTATCTATGTCCAAGCATTGATAT
TTCGCCTAGAAGGAAATATCCAAGAATCCCTAGAACTCTTCCAGACATGTGCAGTTCTTAGTCCTCAGAGTGCTGATAACCTCAAGCAGG
TGGCCAGATCTTTATTTCTTTTGGGAAAACATAAAGCTGCCATTGAAGTATATAATGAAGCAGCTAAACTCAACCAGAAAGATTGGGAGA
TCAGCCATAACCTAGGAGTTTGCTACATATACCTGAAGCAGTTCAACAAGGCACAAGACCAGTTGCACAATGCCCTGAATCTTAATAGGC
ACGATCTGACTTATATAATGCTGGGGAAGATCCACTTGCTGGAGGGAGACTTGGACAAGGCCATTGAAGTCTACAAGAAAGCAGTGGAGT
TCTCACCAGAAAATACAGAGCTTCTTACAACTTTAGGATTACTCTACTTACAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCA
ATGCACTGACTTATGACCCTACCAACTACAAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCA
CCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATG
TGGCGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCA
TGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGTGG
CTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTGTAACCCTTTAGTAAACCTGA
ACTATGCTGTGCTGCTGTACAACCAGGGCGAGAAGAAGAACGCCCTGGCCCAATATCAGGAGATGGAGAAGAAAGTCAGCCTACTCAAGG
ACAATAGCTCTCTGGAATTTGACTCTGAGGTGGTTAGCTCAACCAATGGAGAGCTGAATGTTGATGATCCCACGGGAGCCCACTCCAATG
CACCAATCACAGCTCATGCCGAGGTGGAGGTAGTGGAGGAAGCTAAATGTATAATGTTTCATAAACCCTGGCACTGGTCACAAAGCTCAG
CTGTGAAAATGAAATTTGTAGTATTTTTAAACATGAATGTCAATTTCAAGTGTATTTGAAATGGTTCCTCCAGGAGAGATATTTGTGCAC
CATTAGGAAAATCTTCTCTGCAGAGGAAGTAGCCTTCTTTGGAGAAAATGGAAAATGGGTTCTGATATGTGATCTCAGAGTAGCCCATTT
CCTAGGGCACCATGGAAAACACAAATGTGATCTTTAAGTATACCTCTTCCCCAGTTTGGGGAGGAAAGGACTCAGTTTGCACCCTTTTTG

>9093_9093_2_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000268057_CSNK1G1_chr15_64472653_ENST00000607537_length(amino acids)=485AA_BP=416
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELF
QTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLL
EGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESP
PLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRA
YAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAHAEVEVVEE

--------------------------------------------------------------
>9093_9093_3_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000395205_CSNK1G1_chr15_64472653_ENST00000303052_length(transcript)=7848nt_BP=1272nt
ATGGCTCTTACCGTAGTGCCATCTTTTTCTGTCTCGGGGGTTTGGAAGAGAACTCAATTTCCTGTATCTACTGAGTCTCAAAAACCCCGG
CAGAAAAAAGCTCCAGAGTTTCCTATTTTGGAGAAGCAGAACTGGTTGATTCATCTTCATTATATCCGGAAAGATTATGAAGCCTGCAAG
GCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGGATTGTGTGAATATGCTATCTATGTCCAAGCATTGATATTTCGCCTAGAAGGAAAT
ATCCAAGAATCCCTAGAACTCTTCCAGACATGTGCAGTTCTTAGTCCTCAGAGTGCTGATAACCTCAAGCAGGTGGCCAGATCTTTATTT
CTTTTGGGAAAACATAAAGCTGCCATTGAAGTATATAATGAAGCAGCTAAACTCAACCAGAAAGATTGGGAGATCAGCCATAACCTAGGA
GTTTGCTACATATACCTGAAGCAGTTCAACAAGGCACAAGACCAGTTGCACAATGCCCTGAATCTTAATAGGCACGATCTGACTTATATA
ATGCTGGGGAAGATCCACTTGCTGGAGGGAGACTTGGACAAGGCCATTGAAGTCTACAAGAAAGCAGTGGAGTTCTCACCAGAAAATACA
GAGCTTCTTACAACTTTAGGATTACTCTACTTACAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGAC
CCTACCAACTACAAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTG
GCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGCCATCAGCTGC
CTGAAACGAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCA
GCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGTGGCTCTGACCAATCTGGAA
GATATAGAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTGTAACCCTTTAGTAAACCTGAACTATGCTGTGCTGCTG
TACAACCAGGGCGAGAAGAAGAACGCCCTGGCCCAATATCAGGAGATGGAGAAGAAAGTCAGCCTACTCAAGGACAATAGCTCTCTGGAA
TTTGACTCTGAGGTGGTTAGCTCAACCAATGGAGAGCTGAATGTTGATGATCCCACGGGAGCCCACTCCAATGCACCAATCACAGCTCAT
GCCGAGGTGGAGGTAGTGGAGGAAGCTAAGTGCTGCTGTTTCTTTAAGAGGAAAAGGAAGAAGACTGCTCAGCGCCACAAGTGACCAGTG
CCTCCCAGGAGTCCTCAGGCCCTGGGGACTCTGACTCAATTGTACCTGCAGCTCCTGCCATTTCTCATTGGAAGGGACTCCTCTTTGGGG
GAGGGTGGATATCCAAACCAAAAAGAAGAAAACAGATGCCCCCAGAAGGGGCCAGTGCGGGCAGCCAGGGCCTAGTGGGTCATTGGCCAT
CTCCGCCTGCCTAAGGCTCTGAGCAGGTCCCAGAGCTGCTGTTCCTCCACTGCTTGCCCATAGGGCTGCCTGGTTGACTCTCCTTCCCAT
TGTTTACAGTGAAGGTGTCATTCACAAAAACTCAAGGACTGCTATTCTCCTTCTTCCCCTTAGTTTACTCCTGGTTTTTACCCCACCCTC
AACCCTCTCCAGCATAAAACCTAGTGAGCTAAAGGCTTTGTCTGCAGAAGGAGATCAAGAGGCTGGGGGTAAGGCCAAGAAGGTAGGAGG
AAAATGGCAGACCTGGGCTGGAGAAGAACCTTCTCCGTATCCCAGGTGTGCCTGGCAGTATGGTTTCCTCTTCCTCTGTGCCTGTGCAGC
ATTCATCCCAGCTGGCCTTGGGGTTCAGGTTCCTTCTTCCCTCCCTCCTGTGAAGTTACACTGTAGGACACAAGCTGTGAGCAATCTGCA
GTCTACTGTCCCTGTGTGTTGGCGTTCTTAGCTTTTTTGACAAACTCTTTTCTCCAGGTAGTAGGACAATGAAAATTGTTCTAAGCAAAG
GAAAGAAAACTGACTTTGTTGCACTTTTAGTTTTTTTAAAAAAAACAAAAACAAAAACATGGCAGATGCATATTGTGTCTGGTTATATTG
GGGGTTTTACTTTTACCTGTTTTGAGGGGGATGGGGCCGGCCAAGCCATTCAGAGAGAACATGGGTCCAGAGGACATTCTCAGTGGAAAG
AGTTTGATCTGCAGCACCCAGAAGAGAAGCCAAACTCGGTGTCATTCTGAGTGAACACTCAGGTTGGCAAGAAAACATACTTGAATTTTC
ATTCATCTTCTCAGCAGCTGAAGAATGTCCCTACCAGAGCATCTTGACCTAATCAGCTTACAGTTTGAAAACCTAGCTCTCCAGAACATG
AGATGAGCCAGCCGAGCCAGACTGTGACCAGGAAACAGCTCATCCCAGAGAAGGAGATGCTTAACAAAAAAAAATTGAAATTGTTTCCCA
TGCTGCCAGGGACTTCCAACTAGATAGCCATGTGACGTCCTGGTGACTTGGGGGAAAAATTAGTGATGAAACAGCCACCACCATATTGCC
ATTAGTGGAAAAAAAGAGGACAGTGAACCTGCCTTCCACCTGCCAGAGGGACCTCAGGGTGTGGCATTATAGGGCCAGGAAAAGAAAATC
GGTGTATCCTATCTGCCCCAATAGCTGAGCTGTAGCATTTGGGCTGGCCTGCCTTATCAGAAACCAAGCTTATGAAGATCTTCTCCCAGC
AGGTCCATAGCAGTAGGCTTAGGATGCAGTATATGGGGCCGCATTTAAAAGGAGGGAAAGATTGTTTGGTGCTGGAACATTCCAGGGAAA
AGGAGACTGGAATGAAAGGTCTGAAATTATCTTCTCAATTGGACTCCTTCCAGAAAGGTGGCCGTGCCTCTAAGCATGTTTTTCCCAGTA
TGCCCTAGGCCTCCCCCCATGGTGTTTTCATATGAGGTACTACTGTGAAGGATCTGGTTCCTCATTCACTGTTTGACAAGTCTTTCATGT
GTGGAGTTACTCTTCTCATGCCCAATTTTCATTTGAGTTTAGTGGCTTAACCAAACAATGACTCCTCATTCCAGCGGTGACAGAAGAGAA
AGGGTCATTTACATCAGGAAAGAGGTCTTGTATCTGGGAGTAGAGAGCTAACCATGGAGCACAGTGGCTGGTGGGTGACTTAGTCTGATG
GTTTGTGGACCATAGAAGTCTTCACCTCTGGTTTGAGGTGCAGGGCTGTCTTTTGTACTGGAGGGTGTGGGGATATTTTCTGATAGTTGC
CATTTCTTGAAAAATTCCCTTGATGTACCTTACACAGAGCAGAAATAACATTAACATGGATCAGAGGTACTGGGCTTCATCTGTTCCATT
GGACCTTGGCTAGGGAATATCATTTCACTGGCATCAAACCTGCTTAGCTTATGAAAAGATGGTAATATGTCATTTCTATAAATGTTTCTA
TATATGAAACATAAAGTGGCAGGGAGATACAATATCACACCCCTTCCCCACAAGGACTGTGAATATTGGGATTTATGTCCTTGCCATTAC
CTAGTGGTTACAGCCCTATCACTAAAATTTACATCGTTTCTCAGTTGGGATTTGGGCATTGCTAACTTACTGTATAGAAAGTTTAACTTT
TCCTCACCCCTGTATAGAAAATGCCTTGCCTCTCAAGAGAGGGCAGAGGGGGGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGT
TTGGGAGGCCAAGGCAAGTGGATCATGTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAAATAC
AAAAATTAGCTGGGCATGGTGGCATGCTCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAA
GTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTAAAAAGAAAAAAAAAAAAGGGCAGAGG
GAAATGGTGGGAATGCCTGGAGCATCCTGGCACTCTATACTCTACTGAGTGCCTCTCTTCAGCCCCTCACCCTGCTTCCACACACACACA
CACAAAAGCAAAGGCACTGACCAGCTTGGCTGCAGGGCAAGCTGCCTTGCAGCTGGATTTGCGACTTTTTTTTTGTCTTAAAATTTTTAC
TGGATCAGTTGTAGGGGACTGTACTTCCTAAGACACTGTTCTCACCTTCCAACCTCACAAATCTCTTACTAGATATTTGGTTTTTATAAC
AAGGGTAAAGAATCCCAGGTCCCTTTAGCATGCAGAGTAATGGTGATCCCTCCAGAGCCATTGGCACTTCAAAGTGGTCCCAGACCTGGG
AGATTCTGGTGGGATCTTCCTTAAAAATAAGCAAAAAACCTGAGTACCCTAGATGCAATTGGCCATTTGTTTCAGGCCCATCAGCGAATC
AGGGCTCCCTCCTCAACCCTACTGCTACAGTTCCTTAGCTGTATGCCTCAGCCAGATCCTTGGGGTTAGGGCATGCACTCGCTGACTGTC
CCCACCCATCCACTTGCTCTGTAGTTTCTGAGCTTTCTCCATTTCACAAGTATGGTGCCTAACGATCTTTTTCTTTAGGATTGATGCAGT
TGTTTTTCCTGAAAGCTAACTCAGCATCTATTCATAAAAACCCTTAATAGTATACATTAGGAGTTTTCCCAAGCTCTACAGTCCCTCAGA
CATTGCATCCTAAACAGATTTGAGGCACACAGGCCAAGACTCCACCAAGGCATAAATGGTCCCCCCTACTCCCTTTTGACCAGGGTATCA
CTTGTGTCTCTGCAGTAAGAGTTGGTCAAGTTGCTCTACGCACCTTGGTGCTTTCCAGAGATCTCACTCCAGACTGCCCCCAAGGGTGGA
TAGAGTATCCTGACAGCCAGTGTGCACTCATGACTGCCTTAATTAACATTCTTCTGCTATTATGGAGCCTGTCCAGCAATAAACAGGGTC
TAGGAAGGTACAAGATTAGCTTCCAGTTAAAATCCCATTTTATATTGGAATGCATGAGCTACAGATGACAGCAGAGATCCTGAGGTTTCT
AGACATGTTGATTGTCTCTTTTTTCTAAATGAACTCCAAGTACTTAGAAAACAGTCCCTGTCCATCAGCCAGAAAAGGTGACCATCACCC
CTAAAGTAATTTCCAAACTTAGTTCAGTGGGAAGATATGCTGGTAGTGCATATTCAGTGTTGATTTTCAGTGCTAGTAACCACTTTTAAT
GCCAGAAATATGTAACAATGATAATGTAACGTCAAAGTGGTTACTAAAGATTATAGCCTTAACTTTTTTATGTAAAAGATAAAATCCATT
CCTCCTCCCAGTGAGCAAGCATGGCTTGCATTTCTCAAAAATGAGAACTTCCATGGCAGCCAAGAAAACGTCTTCTCAGAGGAACTTTCG
TTTGATGCATCTCCCAAGCCCACATGCCTCCTGTGTTCCAGCCACCTCTTCCATTTCACATTTAAACCAGCTCTCCATTCCCATTGAGTT
GCCCTAACAACATTGTCTCCAGTGTCAGAACCATATTAAGGTTCGTTTCTCAGATTGGGAGCCTGCAACACCATACAGCCAACATTGCCT
TTGCCACGCCACTGCCACCATCCCCACCATTGCCCTATGGTGGGCAGATGAATTCCAGAAACCCTCAGGGAGCCAGGATAATTAGGCAAC
CCATCTGAATTGGCCACGTAAGTGACAGGCACTTATCTCTCGGGTTCTTGCTTTTGCAGACTCCAGGGAAGTCCTGTCTAGAGGTCGATG
GCAGAGACTCCTAGTCTTTCCCATGAGGGGTTGATAGGAATCAAATTGGGATTCCTTTGGCTTTGGGTTTTGTTTTTTTGTTGTTGTTTT
TGGTTTTCAGTTTGTTTTTTGGTGTATGGGGGGTGATTTTGTTTCTGAATAAGAAAAAGAAGAGGCAACCATGGCCCTTATGTGGGTTTA
TCCTTTTTGAGCAATGTTTTAGCCACAAGTAAGGAATCTTGAAAGTCTTTTGTCCAGCAAGCAGTCTTAAAAATGTTTTTCCTAACTCCT
TTTGCAGGTGACTAAGTACAAAAAAATAGTTTTCTCATTGTATTCAAAATAGTGAGTAGGTTCCCTGGATAATACACAGTGGTAGTTGAC
ATATTTTCTCAAAACACAACCAGAAAACCCACTTCCGGTATTTGTAAATCACCTTTCAAGGGAAAAAGTGAACACGTATTCCTTGTATTT
CTAGTTTGATTACCAAACCTGATGTTACAAAGAAACCTCCGTTCTGTAGACAGAATTTCTTTTATTTTTCTTCTTTTACTCCTCACAATC
ACTTTCCCAGTGCCATCACCATCTATAAGGTCTCAGAGCAGAGGATTATTCATGGTAATAAGTGGGGGTGTGGTGCAGCCATTCCAGTAA
CACCCACAAGAGGACAGCTGTTCTGAATGTCCCCACCCACCCCTCTTTCAGTACAGGTGAGACATTTTCAGTTCATGAGCTCCAGACCAA
ATCCCAGGCCAGCCCTTGCACCAAAAGCCTTTTTTAGAAGGCTTATCAGTCTATTAGGAATGTCTCAGGAAAGATGAGCCATTTCTTTGG
GGAGAAATATATTTACAGATGGAAGTGTGTGACTGCGTGTCTGTGTGTGTGTGTGGTGTGTGTGCGCACGTGAGTGCGTGTGTTCATCTA
TGTGCATTTCACTTCCATAAAGACCCAGCCCAAGCTGCTGGGAACCATGTGTTCCTGAGTATTCTCAGAGGTTAAACAAGTGACAAGTGA
GCTTCTGAAATTAGTGTCTCAGCAAGCTGGCTTTAGGAATGAGCCCCATTTTATCAAGCAGAGAAAAAAAATAACAGCAGAAAAGATAAA
GATAAACCAAAAATATATACCCCCCAATGGAAAATAATGTTGATTCAGCAATTCCCATAGGATGTATTACATGCTCTAATTTATTATATT
ATTATTTATCTGTCTTTGATCTTTGCCCATTGTACTCTTAAAAAGATGTTGGGATGTTGATTGCGATTTTTAAACAACTAGATAATGTAT
AAATCAGCAGTGGAAATCAGTTTTAATGTGTGGATGTGTCTGATTATTGTTAAATGCCTCTTTTTTTACTTTTTTTTTTTTTAGATGTAT
AATGTTTCATAAACCCTGGCACTGGTCACAAAGCTCAGCTGTGAAAATGAAATTTGTAGTATTTTTAAACATGAATGTCAATTTCAAGTG
TATTTGAAATGGTTCCTCCAGGAGAGATATTTGTGCACCATTAGGAAAATCTTCTCTGCAGAGGAAGTAGCCTTCTTTGGAGAAAATGGA
AAATGGGTTCTGATATGTGATCTCAGAGTAGCCCATTTCCTAGGGCACCATGGAAAACACAAATGTGATCTTTAAGTATACCTCTTCCCC
AGTTTGGGGAGGAAAGGACTCAGTTTGCACCCTTTTTGTATGTAAAATAAAATGTCTTACCTTTCTTGGCTACTTCTGCTTGTTTGGTTG
GTTGATTGGTTTGTCTGTTTTTAATCTCCCTCGGCTCATTTGTAATTAACAATCTAGCTAGGACTAACTTTGATGCGATTCAAGACTCCT
GTGAACAAAAATAATTTGGCATTCTTGTTTCATTCCTTGGATTAAATATTGTCTTCTCCTGTGAGTCACTTCAAAAATAAATACTGCTGT

>9093_9093_3_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000395205_CSNK1G1_chr15_64472653_ENST00000303052_length(amino acids)=477AA_BP=424
MALTVVPSFSVSGVWKRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGN
IQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYI
MLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVV
ACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLE
DIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAH

--------------------------------------------------------------
>9093_9093_4_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000395205_CSNK1G1_chr15_64472653_ENST00000607537_length(transcript)=1726nt_BP=1272nt
ATGGCTCTTACCGTAGTGCCATCTTTTTCTGTCTCGGGGGTTTGGAAGAGAACTCAATTTCCTGTATCTACTGAGTCTCAAAAACCCCGG
CAGAAAAAAGCTCCAGAGTTTCCTATTTTGGAGAAGCAGAACTGGTTGATTCATCTTCATTATATCCGGAAAGATTATGAAGCCTGCAAG
GCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGGATTGTGTGAATATGCTATCTATGTCCAAGCATTGATATTTCGCCTAGAAGGAAAT
ATCCAAGAATCCCTAGAACTCTTCCAGACATGTGCAGTTCTTAGTCCTCAGAGTGCTGATAACCTCAAGCAGGTGGCCAGATCTTTATTT
CTTTTGGGAAAACATAAAGCTGCCATTGAAGTATATAATGAAGCAGCTAAACTCAACCAGAAAGATTGGGAGATCAGCCATAACCTAGGA
GTTTGCTACATATACCTGAAGCAGTTCAACAAGGCACAAGACCAGTTGCACAATGCCCTGAATCTTAATAGGCACGATCTGACTTATATA
ATGCTGGGGAAGATCCACTTGCTGGAGGGAGACTTGGACAAGGCCATTGAAGTCTACAAGAAAGCAGTGGAGTTCTCACCAGAAAATACA
GAGCTTCTTACAACTTTAGGATTACTCTACTTACAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGAC
CCTACCAACTACAAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTG
GCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGCCATCAGCTGC
CTGAAACGAGCCAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCA
GCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGTGGCTCTGACCAATCTGGAA
GATATAGAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTGTAACCCTTTAGTAAACCTGAACTATGCTGTGCTGCTG
TACAACCAGGGCGAGAAGAAGAACGCCCTGGCCCAATATCAGGAGATGGAGAAGAAAGTCAGCCTACTCAAGGACAATAGCTCTCTGGAA
TTTGACTCTGAGGTGGTTAGCTCAACCAATGGAGAGCTGAATGTTGATGATCCCACGGGAGCCCACTCCAATGCACCAATCACAGCTCAT
GCCGAGGTGGAGGTAGTGGAGGAAGCTAAATGTATAATGTTTCATAAACCCTGGCACTGGTCACAAAGCTCAGCTGTGAAAATGAAATTT
GTAGTATTTTTAAACATGAATGTCAATTTCAAGTGTATTTGAAATGGTTCCTCCAGGAGAGATATTTGTGCACCATTAGGAAAATCTTCT
CTGCAGAGGAAGTAGCCTTCTTTGGAGAAAATGGAAAATGGGTTCTGATATGTGATCTCAGAGTAGCCCATTTCCTAGGGCACCATGGAA
AACACAAATGTGATCTTTAAGTATACCTCTTCCCCAGTTTGGGGAGGAAAGGACTCAGTTTGCACCCTTTTTGTATGTAAAATAAAATGT

>9093_9093_4_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000395205_CSNK1G1_chr15_64472653_ENST00000607537_length(amino acids)=493AA_BP=424
MALTVVPSFSVSGVWKRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGN
IQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYI
MLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVV
ACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLE
DIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAH

--------------------------------------------------------------
>9093_9093_5_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000539603_CSNK1G1_chr15_64472653_ENST00000303052_length(transcript)=7903nt_BP=1327nt
GCAGCGGTGGGCTGAGCTAAAATGGCTGAGGAGAGAGTCGCGACGAGAACTCAATTTCCTGTATCTACTGAGTCTCAAAAACCCCGGCAG
AAAAAAGGGGGAGTTGGAGTGAGCAATGATTTGGAATACCAGAAATTCAACTTATATATTTACAGCTCCAGAGTTTCCTATTTTGGAGAA
GCAGAACTGGTTGATTCATCTTCATTATATCCGGAAAGATTATGAAGCCTGCAAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGG
ATTGTGTGAATATGCTATCTATGTCCAAGCATTGATATTTCGCCTAGAAGGAAATATCCAAGAATCCCTAGAACTCTTCCAGACATGTGC
AGTTCTTAGTCCTCAGAGTGCTGATAACCTCAAGCAGGTGGCCAGATCTTTATTTCTTTTGGGAAAACATAAAGCTGCCATTGAAGTATA
TAATGAAGCAGCTAAACTCAACCAGAAAGATTGGGAGATCAGCCATAACCTAGGAGTTTGCTACATATACCTGAAGCAGTTCAACAAGGC
ACAAGACCAGTTGCACAATGCCCTGAATCTTAATAGGCACGATCTGACTTATATAATGCTGGGGAAGATCCACTTGCTGGAGGGAGACTT
GGACAAGGCCATTGAAGTCTACAAGAAAGCAGTGGAGTTCTCACCAGAAAATACAGAGCTTCTTACAACTTTAGGATTACTCTACTTACA
GCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGCCATCTTGGCAGCAGGCAG
CATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAA
TAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTTTGATTG
GAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCA
GCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGTGGCTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGCAGAAGC
AGTCCACCTGGATAAGTGTAACCCTTTAGTAAACCTGAACTATGCTGTGCTGCTGTACAACCAGGGCGAGAAGAAGAACGCCCTGGCCCA
ATATCAGGAGATGGAGAAGAAAGTCAGCCTACTCAAGGACAATAGCTCTCTGGAATTTGACTCTGAGGTGGTTAGCTCAACCAATGGAGA
GCTGAATGTTGATGATCCCACGGGAGCCCACTCCAATGCACCAATCACAGCTCATGCCGAGGTGGAGGTAGTGGAGGAAGCTAAGTGCTG
CTGTTTCTTTAAGAGGAAAAGGAAGAAGACTGCTCAGCGCCACAAGTGACCAGTGCCTCCCAGGAGTCCTCAGGCCCTGGGGACTCTGAC
TCAATTGTACCTGCAGCTCCTGCCATTTCTCATTGGAAGGGACTCCTCTTTGGGGGAGGGTGGATATCCAAACCAAAAAGAAGAAAACAG
ATGCCCCCAGAAGGGGCCAGTGCGGGCAGCCAGGGCCTAGTGGGTCATTGGCCATCTCCGCCTGCCTAAGGCTCTGAGCAGGTCCCAGAG
CTGCTGTTCCTCCACTGCTTGCCCATAGGGCTGCCTGGTTGACTCTCCTTCCCATTGTTTACAGTGAAGGTGTCATTCACAAAAACTCAA
GGACTGCTATTCTCCTTCTTCCCCTTAGTTTACTCCTGGTTTTTACCCCACCCTCAACCCTCTCCAGCATAAAACCTAGTGAGCTAAAGG
CTTTGTCTGCAGAAGGAGATCAAGAGGCTGGGGGTAAGGCCAAGAAGGTAGGAGGAAAATGGCAGACCTGGGCTGGAGAAGAACCTTCTC
CGTATCCCAGGTGTGCCTGGCAGTATGGTTTCCTCTTCCTCTGTGCCTGTGCAGCATTCATCCCAGCTGGCCTTGGGGTTCAGGTTCCTT
CTTCCCTCCCTCCTGTGAAGTTACACTGTAGGACACAAGCTGTGAGCAATCTGCAGTCTACTGTCCCTGTGTGTTGGCGTTCTTAGCTTT
TTTGACAAACTCTTTTCTCCAGGTAGTAGGACAATGAAAATTGTTCTAAGCAAAGGAAAGAAAACTGACTTTGTTGCACTTTTAGTTTTT
TTAAAAAAAACAAAAACAAAAACATGGCAGATGCATATTGTGTCTGGTTATATTGGGGGTTTTACTTTTACCTGTTTTGAGGGGGATGGG
GCCGGCCAAGCCATTCAGAGAGAACATGGGTCCAGAGGACATTCTCAGTGGAAAGAGTTTGATCTGCAGCACCCAGAAGAGAAGCCAAAC
TCGGTGTCATTCTGAGTGAACACTCAGGTTGGCAAGAAAACATACTTGAATTTTCATTCATCTTCTCAGCAGCTGAAGAATGTCCCTACC
AGAGCATCTTGACCTAATCAGCTTACAGTTTGAAAACCTAGCTCTCCAGAACATGAGATGAGCCAGCCGAGCCAGACTGTGACCAGGAAA
CAGCTCATCCCAGAGAAGGAGATGCTTAACAAAAAAAAATTGAAATTGTTTCCCATGCTGCCAGGGACTTCCAACTAGATAGCCATGTGA
CGTCCTGGTGACTTGGGGGAAAAATTAGTGATGAAACAGCCACCACCATATTGCCATTAGTGGAAAAAAAGAGGACAGTGAACCTGCCTT
CCACCTGCCAGAGGGACCTCAGGGTGTGGCATTATAGGGCCAGGAAAAGAAAATCGGTGTATCCTATCTGCCCCAATAGCTGAGCTGTAG
CATTTGGGCTGGCCTGCCTTATCAGAAACCAAGCTTATGAAGATCTTCTCCCAGCAGGTCCATAGCAGTAGGCTTAGGATGCAGTATATG
GGGCCGCATTTAAAAGGAGGGAAAGATTGTTTGGTGCTGGAACATTCCAGGGAAAAGGAGACTGGAATGAAAGGTCTGAAATTATCTTCT
CAATTGGACTCCTTCCAGAAAGGTGGCCGTGCCTCTAAGCATGTTTTTCCCAGTATGCCCTAGGCCTCCCCCCATGGTGTTTTCATATGA
GGTACTACTGTGAAGGATCTGGTTCCTCATTCACTGTTTGACAAGTCTTTCATGTGTGGAGTTACTCTTCTCATGCCCAATTTTCATTTG
AGTTTAGTGGCTTAACCAAACAATGACTCCTCATTCCAGCGGTGACAGAAGAGAAAGGGTCATTTACATCAGGAAAGAGGTCTTGTATCT
GGGAGTAGAGAGCTAACCATGGAGCACAGTGGCTGGTGGGTGACTTAGTCTGATGGTTTGTGGACCATAGAAGTCTTCACCTCTGGTTTG
AGGTGCAGGGCTGTCTTTTGTACTGGAGGGTGTGGGGATATTTTCTGATAGTTGCCATTTCTTGAAAAATTCCCTTGATGTACCTTACAC
AGAGCAGAAATAACATTAACATGGATCAGAGGTACTGGGCTTCATCTGTTCCATTGGACCTTGGCTAGGGAATATCATTTCACTGGCATC
AAACCTGCTTAGCTTATGAAAAGATGGTAATATGTCATTTCTATAAATGTTTCTATATATGAAACATAAAGTGGCAGGGAGATACAATAT
CACACCCCTTCCCCACAAGGACTGTGAATATTGGGATTTATGTCCTTGCCATTACCTAGTGGTTACAGCCCTATCACTAAAATTTACATC
GTTTCTCAGTTGGGATTTGGGCATTGCTAACTTACTGTATAGAAAGTTTAACTTTTCCTCACCCCTGTATAGAAAATGCCTTGCCTCTCA
AGAGAGGGCAGAGGGGGGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAAGTGGATCATGTGAGGTCA
AGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCTCCCGTAG
TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAAGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCA
GCCTGGGCAACAGAGTGAGACTCTGTCTAAAAAGAAAAAAAAAAAAGGGCAGAGGGAAATGGTGGGAATGCCTGGAGCATCCTGGCACTC
TATACTCTACTGAGTGCCTCTCTTCAGCCCCTCACCCTGCTTCCACACACACACACACAAAAGCAAAGGCACTGACCAGCTTGGCTGCAG
GGCAAGCTGCCTTGCAGCTGGATTTGCGACTTTTTTTTTGTCTTAAAATTTTTACTGGATCAGTTGTAGGGGACTGTACTTCCTAAGACA
CTGTTCTCACCTTCCAACCTCACAAATCTCTTACTAGATATTTGGTTTTTATAACAAGGGTAAAGAATCCCAGGTCCCTTTAGCATGCAG
AGTAATGGTGATCCCTCCAGAGCCATTGGCACTTCAAAGTGGTCCCAGACCTGGGAGATTCTGGTGGGATCTTCCTTAAAAATAAGCAAA
AAACCTGAGTACCCTAGATGCAATTGGCCATTTGTTTCAGGCCCATCAGCGAATCAGGGCTCCCTCCTCAACCCTACTGCTACAGTTCCT
TAGCTGTATGCCTCAGCCAGATCCTTGGGGTTAGGGCATGCACTCGCTGACTGTCCCCACCCATCCACTTGCTCTGTAGTTTCTGAGCTT
TCTCCATTTCACAAGTATGGTGCCTAACGATCTTTTTCTTTAGGATTGATGCAGTTGTTTTTCCTGAAAGCTAACTCAGCATCTATTCAT
AAAAACCCTTAATAGTATACATTAGGAGTTTTCCCAAGCTCTACAGTCCCTCAGACATTGCATCCTAAACAGATTTGAGGCACACAGGCC
AAGACTCCACCAAGGCATAAATGGTCCCCCCTACTCCCTTTTGACCAGGGTATCACTTGTGTCTCTGCAGTAAGAGTTGGTCAAGTTGCT
CTACGCACCTTGGTGCTTTCCAGAGATCTCACTCCAGACTGCCCCCAAGGGTGGATAGAGTATCCTGACAGCCAGTGTGCACTCATGACT
GCCTTAATTAACATTCTTCTGCTATTATGGAGCCTGTCCAGCAATAAACAGGGTCTAGGAAGGTACAAGATTAGCTTCCAGTTAAAATCC
CATTTTATATTGGAATGCATGAGCTACAGATGACAGCAGAGATCCTGAGGTTTCTAGACATGTTGATTGTCTCTTTTTTCTAAATGAACT
CCAAGTACTTAGAAAACAGTCCCTGTCCATCAGCCAGAAAAGGTGACCATCACCCCTAAAGTAATTTCCAAACTTAGTTCAGTGGGAAGA
TATGCTGGTAGTGCATATTCAGTGTTGATTTTCAGTGCTAGTAACCACTTTTAATGCCAGAAATATGTAACAATGATAATGTAACGTCAA
AGTGGTTACTAAAGATTATAGCCTTAACTTTTTTATGTAAAAGATAAAATCCATTCCTCCTCCCAGTGAGCAAGCATGGCTTGCATTTCT
CAAAAATGAGAACTTCCATGGCAGCCAAGAAAACGTCTTCTCAGAGGAACTTTCGTTTGATGCATCTCCCAAGCCCACATGCCTCCTGTG
TTCCAGCCACCTCTTCCATTTCACATTTAAACCAGCTCTCCATTCCCATTGAGTTGCCCTAACAACATTGTCTCCAGTGTCAGAACCATA
TTAAGGTTCGTTTCTCAGATTGGGAGCCTGCAACACCATACAGCCAACATTGCCTTTGCCACGCCACTGCCACCATCCCCACCATTGCCC
TATGGTGGGCAGATGAATTCCAGAAACCCTCAGGGAGCCAGGATAATTAGGCAACCCATCTGAATTGGCCACGTAAGTGACAGGCACTTA
TCTCTCGGGTTCTTGCTTTTGCAGACTCCAGGGAAGTCCTGTCTAGAGGTCGATGGCAGAGACTCCTAGTCTTTCCCATGAGGGGTTGAT
AGGAATCAAATTGGGATTCCTTTGGCTTTGGGTTTTGTTTTTTTGTTGTTGTTTTTGGTTTTCAGTTTGTTTTTTGGTGTATGGGGGGTG
ATTTTGTTTCTGAATAAGAAAAAGAAGAGGCAACCATGGCCCTTATGTGGGTTTATCCTTTTTGAGCAATGTTTTAGCCACAAGTAAGGA
ATCTTGAAAGTCTTTTGTCCAGCAAGCAGTCTTAAAAATGTTTTTCCTAACTCCTTTTGCAGGTGACTAAGTACAAAAAAATAGTTTTCT
CATTGTATTCAAAATAGTGAGTAGGTTCCCTGGATAATACACAGTGGTAGTTGACATATTTTCTCAAAACACAACCAGAAAACCCACTTC
CGGTATTTGTAAATCACCTTTCAAGGGAAAAAGTGAACACGTATTCCTTGTATTTCTAGTTTGATTACCAAACCTGATGTTACAAAGAAA
CCTCCGTTCTGTAGACAGAATTTCTTTTATTTTTCTTCTTTTACTCCTCACAATCACTTTCCCAGTGCCATCACCATCTATAAGGTCTCA
GAGCAGAGGATTATTCATGGTAATAAGTGGGGGTGTGGTGCAGCCATTCCAGTAACACCCACAAGAGGACAGCTGTTCTGAATGTCCCCA
CCCACCCCTCTTTCAGTACAGGTGAGACATTTTCAGTTCATGAGCTCCAGACCAAATCCCAGGCCAGCCCTTGCACCAAAAGCCTTTTTT
AGAAGGCTTATCAGTCTATTAGGAATGTCTCAGGAAAGATGAGCCATTTCTTTGGGGAGAAATATATTTACAGATGGAAGTGTGTGACTG
CGTGTCTGTGTGTGTGTGTGGTGTGTGTGCGCACGTGAGTGCGTGTGTTCATCTATGTGCATTTCACTTCCATAAAGACCCAGCCCAAGC
TGCTGGGAACCATGTGTTCCTGAGTATTCTCAGAGGTTAAACAAGTGACAAGTGAGCTTCTGAAATTAGTGTCTCAGCAAGCTGGCTTTA
GGAATGAGCCCCATTTTATCAAGCAGAGAAAAAAAATAACAGCAGAAAAGATAAAGATAAACCAAAAATATATACCCCCCAATGGAAAAT
AATGTTGATTCAGCAATTCCCATAGGATGTATTACATGCTCTAATTTATTATATTATTATTTATCTGTCTTTGATCTTTGCCCATTGTAC
TCTTAAAAAGATGTTGGGATGTTGATTGCGATTTTTAAACAACTAGATAATGTATAAATCAGCAGTGGAAATCAGTTTTAATGTGTGGAT
GTGTCTGATTATTGTTAAATGCCTCTTTTTTTACTTTTTTTTTTTTTAGATGTATAATGTTTCATAAACCCTGGCACTGGTCACAAAGCT
CAGCTGTGAAAATGAAATTTGTAGTATTTTTAAACATGAATGTCAATTTCAAGTGTATTTGAAATGGTTCCTCCAGGAGAGATATTTGTG
CACCATTAGGAAAATCTTCTCTGCAGAGGAAGTAGCCTTCTTTGGAGAAAATGGAAAATGGGTTCTGATATGTGATCTCAGAGTAGCCCA
TTTCCTAGGGCACCATGGAAAACACAAATGTGATCTTTAAGTATACCTCTTCCCCAGTTTGGGGAGGAAAGGACTCAGTTTGCACCCTTT
TTGTATGTAAAATAAAATGTCTTACCTTTCTTGGCTACTTCTGCTTGTTTGGTTGGTTGATTGGTTTGTCTGTTTTTAATCTCCCTCGGC
TCATTTGTAATTAACAATCTAGCTAGGACTAACTTTGATGCGATTCAAGACTCCTGTGAACAAAAATAATTTGGCATTCTTGTTTCATTC

>9093_9093_5_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000539603_CSNK1G1_chr15_64472653_ENST00000303052_length(amino acids)=457AA_BP=404
MIWNTRNSTYIFTAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSAD
NLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYK
KAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFG
KKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNP
LVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAHAEVEVVEEAKCCCFFKRKRK

--------------------------------------------------------------
>9093_9093_6_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000539603_CSNK1G1_chr15_64472653_ENST00000607537_length(transcript)=1781nt_BP=1327nt
GCAGCGGTGGGCTGAGCTAAAATGGCTGAGGAGAGAGTCGCGACGAGAACTCAATTTCCTGTATCTACTGAGTCTCAAAAACCCCGGCAG
AAAAAAGGGGGAGTTGGAGTGAGCAATGATTTGGAATACCAGAAATTCAACTTATATATTTACAGCTCCAGAGTTTCCTATTTTGGAGAA
GCAGAACTGGTTGATTCATCTTCATTATATCCGGAAAGATTATGAAGCCTGCAAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGG
ATTGTGTGAATATGCTATCTATGTCCAAGCATTGATATTTCGCCTAGAAGGAAATATCCAAGAATCCCTAGAACTCTTCCAGACATGTGC
AGTTCTTAGTCCTCAGAGTGCTGATAACCTCAAGCAGGTGGCCAGATCTTTATTTCTTTTGGGAAAACATAAAGCTGCCATTGAAGTATA
TAATGAAGCAGCTAAACTCAACCAGAAAGATTGGGAGATCAGCCATAACCTAGGAGTTTGCTACATATACCTGAAGCAGTTCAACAAGGC
ACAAGACCAGTTGCACAATGCCCTGAATCTTAATAGGCACGATCTGACTTATATAATGCTGGGGAAGATCCACTTGCTGGAGGGAGACTT
GGACAAGGCCATTGAAGTCTACAAGAAAGCAGTGGAGTTCTCACCAGAAAATACAGAGCTTCTTACAACTTTAGGATTACTCTACTTACA
GCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGCCATCTTGGCAGCAGGCAG
CATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAA
TAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTTTGATTG
GAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCA
GCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGTGGCTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGCAGAAGC
AGTCCACCTGGATAAGTGTAACCCTTTAGTAAACCTGAACTATGCTGTGCTGCTGTACAACCAGGGCGAGAAGAAGAACGCCCTGGCCCA
ATATCAGGAGATGGAGAAGAAAGTCAGCCTACTCAAGGACAATAGCTCTCTGGAATTTGACTCTGAGGTGGTTAGCTCAACCAATGGAGA
GCTGAATGTTGATGATCCCACGGGAGCCCACTCCAATGCACCAATCACAGCTCATGCCGAGGTGGAGGTAGTGGAGGAAGCTAAATGTAT
AATGTTTCATAAACCCTGGCACTGGTCACAAAGCTCAGCTGTGAAAATGAAATTTGTAGTATTTTTAAACATGAATGTCAATTTCAAGTG
TATTTGAAATGGTTCCTCCAGGAGAGATATTTGTGCACCATTAGGAAAATCTTCTCTGCAGAGGAAGTAGCCTTCTTTGGAGAAAATGGA
AAATGGGTTCTGATATGTGATCTCAGAGTAGCCCATTTCCTAGGGCACCATGGAAAACACAAATGTGATCTTTAAGTATACCTCTTCCCC

>9093_9093_6_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000539603_CSNK1G1_chr15_64472653_ENST00000607537_length(amino acids)=473AA_BP=404
MIWNTRNSTYIFTAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSAD
NLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYK
KAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFG
KKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNP
LVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEVVSSTNGELNVDDPTGAHSNAPITAHAEVEVVEEAKCIMFHKPWHW

--------------------------------------------------------------
>9093_9093_7_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000542334_CSNK1G1_chr15_64472653_ENST00000303052_length(transcript)=7819nt_BP=1243nt
AAACCGCCGACTTCCGGCCGCGCAGCGGTGGGCTGAGCTAAAATGGCTGAGGAGAGAGTCGCGACGCTCCAGAGTTTCCTATTTTGGAGA
AGCAGAACTGGTTGATTCATCTTCATTATATCCGGAAAGATTATGAAGCCTGCAAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGG
GATTGTGTGAATATGCTATCTATGTCCAAGCATTGATATTTCGCCTAGAAGGAAATATCCAAGAATCCCTAGAACTCTTCCAGACATGTG
CAGTTCTTAGTCCTCAGAGTGCTGATAACCTCAAGCAGGTGGCCAGATCTTTATTTCTTTTGGGAAAACATAAAGCTGCCATTGAAGTAT
ATAATGAAGCAGCTAAACTCAACCAGAAAGATTGGCCTAGGAGATCAGCCATAACCTAGGAGTTTGCTACATATACCTGAAGCAGTTCAA
CAAGGCACAAGACCAGTTGCACAATGCCCTGAATCTTAATAGGCACGATCTGACTTATATAATGCTGGGGAAGATCCACTTGCTGGAGGG
AGACTTGGACAAGGCCATTGAAGTCTACAAGAAAGCAGTGGAGTTCTCACCAGAAAATACAGAGCTTCTTACAACTTTAGGATTACTCTA
CTTACAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGCCATCTTGGCAGC
AGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACT
CTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTT
TGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAA
CTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGTGGCTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGC
AGAAGCAGTCCACCTGGATAAGTGTAACCCTTTAGTAAACCTGAACTATGCTGTGCTGCTGTACAACCAGGGCGAGAAGAAGAACGCCCT
GGCCCAATATCAGGAGATGGAGAAGAAAGTCAGCCTACTCAAGGACAATAGCTCTCTGGAATTTGACTCTGAGGTGGTTAGCTCAACCAA
TGGAGAGCTGAATGTTGATGATCCCACGGGAGCCCACTCCAATGCACCAATCACAGCTCATGCCGAGGTGGAGGTAGTGGAGGAAGCTAA
GTGCTGCTGTTTCTTTAAGAGGAAAAGGAAGAAGACTGCTCAGCGCCACAAGTGACCAGTGCCTCCCAGGAGTCCTCAGGCCCTGGGGAC
TCTGACTCAATTGTACCTGCAGCTCCTGCCATTTCTCATTGGAAGGGACTCCTCTTTGGGGGAGGGTGGATATCCAAACCAAAAAGAAGA
AAACAGATGCCCCCAGAAGGGGCCAGTGCGGGCAGCCAGGGCCTAGTGGGTCATTGGCCATCTCCGCCTGCCTAAGGCTCTGAGCAGGTC
CCAGAGCTGCTGTTCCTCCACTGCTTGCCCATAGGGCTGCCTGGTTGACTCTCCTTCCCATTGTTTACAGTGAAGGTGTCATTCACAAAA
ACTCAAGGACTGCTATTCTCCTTCTTCCCCTTAGTTTACTCCTGGTTTTTACCCCACCCTCAACCCTCTCCAGCATAAAACCTAGTGAGC
TAAAGGCTTTGTCTGCAGAAGGAGATCAAGAGGCTGGGGGTAAGGCCAAGAAGGTAGGAGGAAAATGGCAGACCTGGGCTGGAGAAGAAC
CTTCTCCGTATCCCAGGTGTGCCTGGCAGTATGGTTTCCTCTTCCTCTGTGCCTGTGCAGCATTCATCCCAGCTGGCCTTGGGGTTCAGG
TTCCTTCTTCCCTCCCTCCTGTGAAGTTACACTGTAGGACACAAGCTGTGAGCAATCTGCAGTCTACTGTCCCTGTGTGTTGGCGTTCTT
AGCTTTTTTGACAAACTCTTTTCTCCAGGTAGTAGGACAATGAAAATTGTTCTAAGCAAAGGAAAGAAAACTGACTTTGTTGCACTTTTA
GTTTTTTTAAAAAAAACAAAAACAAAAACATGGCAGATGCATATTGTGTCTGGTTATATTGGGGGTTTTACTTTTACCTGTTTTGAGGGG
GATGGGGCCGGCCAAGCCATTCAGAGAGAACATGGGTCCAGAGGACATTCTCAGTGGAAAGAGTTTGATCTGCAGCACCCAGAAGAGAAG
CCAAACTCGGTGTCATTCTGAGTGAACACTCAGGTTGGCAAGAAAACATACTTGAATTTTCATTCATCTTCTCAGCAGCTGAAGAATGTC
CCTACCAGAGCATCTTGACCTAATCAGCTTACAGTTTGAAAACCTAGCTCTCCAGAACATGAGATGAGCCAGCCGAGCCAGACTGTGACC
AGGAAACAGCTCATCCCAGAGAAGGAGATGCTTAACAAAAAAAAATTGAAATTGTTTCCCATGCTGCCAGGGACTTCCAACTAGATAGCC
ATGTGACGTCCTGGTGACTTGGGGGAAAAATTAGTGATGAAACAGCCACCACCATATTGCCATTAGTGGAAAAAAAGAGGACAGTGAACC
TGCCTTCCACCTGCCAGAGGGACCTCAGGGTGTGGCATTATAGGGCCAGGAAAAGAAAATCGGTGTATCCTATCTGCCCCAATAGCTGAG
CTGTAGCATTTGGGCTGGCCTGCCTTATCAGAAACCAAGCTTATGAAGATCTTCTCCCAGCAGGTCCATAGCAGTAGGCTTAGGATGCAG
TATATGGGGCCGCATTTAAAAGGAGGGAAAGATTGTTTGGTGCTGGAACATTCCAGGGAAAAGGAGACTGGAATGAAAGGTCTGAAATTA
TCTTCTCAATTGGACTCCTTCCAGAAAGGTGGCCGTGCCTCTAAGCATGTTTTTCCCAGTATGCCCTAGGCCTCCCCCCATGGTGTTTTC
ATATGAGGTACTACTGTGAAGGATCTGGTTCCTCATTCACTGTTTGACAAGTCTTTCATGTGTGGAGTTACTCTTCTCATGCCCAATTTT
CATTTGAGTTTAGTGGCTTAACCAAACAATGACTCCTCATTCCAGCGGTGACAGAAGAGAAAGGGTCATTTACATCAGGAAAGAGGTCTT
GTATCTGGGAGTAGAGAGCTAACCATGGAGCACAGTGGCTGGTGGGTGACTTAGTCTGATGGTTTGTGGACCATAGAAGTCTTCACCTCT
GGTTTGAGGTGCAGGGCTGTCTTTTGTACTGGAGGGTGTGGGGATATTTTCTGATAGTTGCCATTTCTTGAAAAATTCCCTTGATGTACC
TTACACAGAGCAGAAATAACATTAACATGGATCAGAGGTACTGGGCTTCATCTGTTCCATTGGACCTTGGCTAGGGAATATCATTTCACT
GGCATCAAACCTGCTTAGCTTATGAAAAGATGGTAATATGTCATTTCTATAAATGTTTCTATATATGAAACATAAAGTGGCAGGGAGATA
CAATATCACACCCCTTCCCCACAAGGACTGTGAATATTGGGATTTATGTCCTTGCCATTACCTAGTGGTTACAGCCCTATCACTAAAATT
TACATCGTTTCTCAGTTGGGATTTGGGCATTGCTAACTTACTGTATAGAAAGTTTAACTTTTCCTCACCCCTGTATAGAAAATGCCTTGC
CTCTCAAGAGAGGGCAGAGGGGGGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAAGTGGATCATGTG
AGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCTC
CCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAAGTTGCAGTGAGCCGAGATCGCACCACTGC
ACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTAAAAAGAAAAAAAAAAAAGGGCAGAGGGAAATGGTGGGAATGCCTGGAGCATCCTG
GCACTCTATACTCTACTGAGTGCCTCTCTTCAGCCCCTCACCCTGCTTCCACACACACACACACAAAAGCAAAGGCACTGACCAGCTTGG
CTGCAGGGCAAGCTGCCTTGCAGCTGGATTTGCGACTTTTTTTTTGTCTTAAAATTTTTACTGGATCAGTTGTAGGGGACTGTACTTCCT
AAGACACTGTTCTCACCTTCCAACCTCACAAATCTCTTACTAGATATTTGGTTTTTATAACAAGGGTAAAGAATCCCAGGTCCCTTTAGC
ATGCAGAGTAATGGTGATCCCTCCAGAGCCATTGGCACTTCAAAGTGGTCCCAGACCTGGGAGATTCTGGTGGGATCTTCCTTAAAAATA
AGCAAAAAACCTGAGTACCCTAGATGCAATTGGCCATTTGTTTCAGGCCCATCAGCGAATCAGGGCTCCCTCCTCAACCCTACTGCTACA
GTTCCTTAGCTGTATGCCTCAGCCAGATCCTTGGGGTTAGGGCATGCACTCGCTGACTGTCCCCACCCATCCACTTGCTCTGTAGTTTCT
GAGCTTTCTCCATTTCACAAGTATGGTGCCTAACGATCTTTTTCTTTAGGATTGATGCAGTTGTTTTTCCTGAAAGCTAACTCAGCATCT
ATTCATAAAAACCCTTAATAGTATACATTAGGAGTTTTCCCAAGCTCTACAGTCCCTCAGACATTGCATCCTAAACAGATTTGAGGCACA
CAGGCCAAGACTCCACCAAGGCATAAATGGTCCCCCCTACTCCCTTTTGACCAGGGTATCACTTGTGTCTCTGCAGTAAGAGTTGGTCAA
GTTGCTCTACGCACCTTGGTGCTTTCCAGAGATCTCACTCCAGACTGCCCCCAAGGGTGGATAGAGTATCCTGACAGCCAGTGTGCACTC
ATGACTGCCTTAATTAACATTCTTCTGCTATTATGGAGCCTGTCCAGCAATAAACAGGGTCTAGGAAGGTACAAGATTAGCTTCCAGTTA
AAATCCCATTTTATATTGGAATGCATGAGCTACAGATGACAGCAGAGATCCTGAGGTTTCTAGACATGTTGATTGTCTCTTTTTTCTAAA
TGAACTCCAAGTACTTAGAAAACAGTCCCTGTCCATCAGCCAGAAAAGGTGACCATCACCCCTAAAGTAATTTCCAAACTTAGTTCAGTG
GGAAGATATGCTGGTAGTGCATATTCAGTGTTGATTTTCAGTGCTAGTAACCACTTTTAATGCCAGAAATATGTAACAATGATAATGTAA
CGTCAAAGTGGTTACTAAAGATTATAGCCTTAACTTTTTTATGTAAAAGATAAAATCCATTCCTCCTCCCAGTGAGCAAGCATGGCTTGC
ATTTCTCAAAAATGAGAACTTCCATGGCAGCCAAGAAAACGTCTTCTCAGAGGAACTTTCGTTTGATGCATCTCCCAAGCCCACATGCCT
CCTGTGTTCCAGCCACCTCTTCCATTTCACATTTAAACCAGCTCTCCATTCCCATTGAGTTGCCCTAACAACATTGTCTCCAGTGTCAGA
ACCATATTAAGGTTCGTTTCTCAGATTGGGAGCCTGCAACACCATACAGCCAACATTGCCTTTGCCACGCCACTGCCACCATCCCCACCA
TTGCCCTATGGTGGGCAGATGAATTCCAGAAACCCTCAGGGAGCCAGGATAATTAGGCAACCCATCTGAATTGGCCACGTAAGTGACAGG
CACTTATCTCTCGGGTTCTTGCTTTTGCAGACTCCAGGGAAGTCCTGTCTAGAGGTCGATGGCAGAGACTCCTAGTCTTTCCCATGAGGG
GTTGATAGGAATCAAATTGGGATTCCTTTGGCTTTGGGTTTTGTTTTTTTGTTGTTGTTTTTGGTTTTCAGTTTGTTTTTTGGTGTATGG
GGGGTGATTTTGTTTCTGAATAAGAAAAAGAAGAGGCAACCATGGCCCTTATGTGGGTTTATCCTTTTTGAGCAATGTTTTAGCCACAAG
TAAGGAATCTTGAAAGTCTTTTGTCCAGCAAGCAGTCTTAAAAATGTTTTTCCTAACTCCTTTTGCAGGTGACTAAGTACAAAAAAATAG
TTTTCTCATTGTATTCAAAATAGTGAGTAGGTTCCCTGGATAATACACAGTGGTAGTTGACATATTTTCTCAAAACACAACCAGAAAACC
CACTTCCGGTATTTGTAAATCACCTTTCAAGGGAAAAAGTGAACACGTATTCCTTGTATTTCTAGTTTGATTACCAAACCTGATGTTACA
AAGAAACCTCCGTTCTGTAGACAGAATTTCTTTTATTTTTCTTCTTTTACTCCTCACAATCACTTTCCCAGTGCCATCACCATCTATAAG
GTCTCAGAGCAGAGGATTATTCATGGTAATAAGTGGGGGTGTGGTGCAGCCATTCCAGTAACACCCACAAGAGGACAGCTGTTCTGAATG
TCCCCACCCACCCCTCTTTCAGTACAGGTGAGACATTTTCAGTTCATGAGCTCCAGACCAAATCCCAGGCCAGCCCTTGCACCAAAAGCC
TTTTTTAGAAGGCTTATCAGTCTATTAGGAATGTCTCAGGAAAGATGAGCCATTTCTTTGGGGAGAAATATATTTACAGATGGAAGTGTG
TGACTGCGTGTCTGTGTGTGTGTGTGGTGTGTGTGCGCACGTGAGTGCGTGTGTTCATCTATGTGCATTTCACTTCCATAAAGACCCAGC
CCAAGCTGCTGGGAACCATGTGTTCCTGAGTATTCTCAGAGGTTAAACAAGTGACAAGTGAGCTTCTGAAATTAGTGTCTCAGCAAGCTG
GCTTTAGGAATGAGCCCCATTTTATCAAGCAGAGAAAAAAAATAACAGCAGAAAAGATAAAGATAAACCAAAAATATATACCCCCCAATG
GAAAATAATGTTGATTCAGCAATTCCCATAGGATGTATTACATGCTCTAATTTATTATATTATTATTTATCTGTCTTTGATCTTTGCCCA
TTGTACTCTTAAAAAGATGTTGGGATGTTGATTGCGATTTTTAAACAACTAGATAATGTATAAATCAGCAGTGGAAATCAGTTTTAATGT
GTGGATGTGTCTGATTATTGTTAAATGCCTCTTTTTTTACTTTTTTTTTTTTTAGATGTATAATGTTTCATAAACCCTGGCACTGGTCAC
AAAGCTCAGCTGTGAAAATGAAATTTGTAGTATTTTTAAACATGAATGTCAATTTCAAGTGTATTTGAAATGGTTCCTCCAGGAGAGATA
TTTGTGCACCATTAGGAAAATCTTCTCTGCAGAGGAAGTAGCCTTCTTTGGAGAAAATGGAAAATGGGTTCTGATATGTGATCTCAGAGT
AGCCCATTTCCTAGGGCACCATGGAAAACACAAATGTGATCTTTAAGTATACCTCTTCCCCAGTTTGGGGAGGAAAGGACTCAGTTTGCA
CCCTTTTTGTATGTAAAATAAAATGTCTTACCTTTCTTGGCTACTTCTGCTTGTTTGGTTGGTTGATTGGTTTGTCTGTTTTTAATCTCC
CTCGGCTCATTTGTAATTAACAATCTAGCTAGGACTAACTTTGATGCGATTCAAGACTCCTGTGAACAAAAATAATTTGGCATTCTTGTT

>9093_9093_7_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000542334_CSNK1G1_chr15_64472653_ENST00000303052_length(amino acids)=322AA_BP=269
MKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYK
AILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFL
SAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEV

--------------------------------------------------------------
>9093_9093_8_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000542334_CSNK1G1_chr15_64472653_ENST00000607537_length(transcript)=1697nt_BP=1243nt
AAACCGCCGACTTCCGGCCGCGCAGCGGTGGGCTGAGCTAAAATGGCTGAGGAGAGAGTCGCGACGCTCCAGAGTTTCCTATTTTGGAGA
AGCAGAACTGGTTGATTCATCTTCATTATATCCGGAAAGATTATGAAGCCTGCAAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGG
GATTGTGTGAATATGCTATCTATGTCCAAGCATTGATATTTCGCCTAGAAGGAAATATCCAAGAATCCCTAGAACTCTTCCAGACATGTG
CAGTTCTTAGTCCTCAGAGTGCTGATAACCTCAAGCAGGTGGCCAGATCTTTATTTCTTTTGGGAAAACATAAAGCTGCCATTGAAGTAT
ATAATGAAGCAGCTAAACTCAACCAGAAAGATTGGCCTAGGAGATCAGCCATAACCTAGGAGTTTGCTACATATACCTGAAGCAGTTCAA
CAAGGCACAAGACCAGTTGCACAATGCCCTGAATCTTAATAGGCACGATCTGACTTATATAATGCTGGGGAAGATCCACTTGCTGGAGGG
AGACTTGGACAAGGCCATTGAAGTCTACAAGAAAGCAGTGGAGTTCTCACCAGAAAATACAGAGCTTCTTACAACTTTAGGATTACTCTA
CTTACAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGCCATCTTGGCAGC
AGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACT
CTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTT
TGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAA
CTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGTGGCTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGC
AGAAGCAGTCCACCTGGATAAGTGTAACCCTTTAGTAAACCTGAACTATGCTGTGCTGCTGTACAACCAGGGCGAGAAGAAGAACGCCCT
GGCCCAATATCAGGAGATGGAGAAGAAAGTCAGCCTACTCAAGGACAATAGCTCTCTGGAATTTGACTCTGAGGTGGTTAGCTCAACCAA
TGGAGAGCTGAATGTTGATGATCCCACGGGAGCCCACTCCAATGCACCAATCACAGCTCATGCCGAGGTGGAGGTAGTGGAGGAAGCTAA
ATGTATAATGTTTCATAAACCCTGGCACTGGTCACAAAGCTCAGCTGTGAAAATGAAATTTGTAGTATTTTTAAACATGAATGTCAATTT
CAAGTGTATTTGAAATGGTTCCTCCAGGAGAGATATTTGTGCACCATTAGGAAAATCTTCTCTGCAGAGGAAGTAGCCTTCTTTGGAGAA
AATGGAAAATGGGTTCTGATATGTGATCTCAGAGTAGCCCATTTCCTAGGGCACCATGGAAAACACAAATGTGATCTTTAAGTATACCTC

>9093_9093_8_BBS4-CSNK1G1_BBS4_chr15_73028307_ENST00000542334_CSNK1G1_chr15_64472653_ENST00000607537_length(amino acids)=338AA_BP=269
MKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYK
AILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFL
SAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEV

--------------------------------------------------------------

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Fusion Gene PPI Analysis for BBS4-CSNK1G1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
HgeneBBS4chr15:73028307chr15:64472653ENST00000268057+1416101_337416.0520.0PCM1
HgeneBBS4chr15:73028307chr15:64472653ENST00000395205+1416101_337424.0528.0PCM1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneBBS4chr15:73028307chr15:64472653ENST00000542334+1315101_337244.0348.0PCM1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for BBS4-CSNK1G1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for BBS4-CSNK1G1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBBS4C2936864Bardet-Biedl syndrome 4 (disorder)6CTD_human;GENOMICS_ENGLAND;UNIPROT