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Center for Computational Systems Medicine
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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:HPS4-CABIN1 (FusionGDB2 ID:37538)

Fusion Gene Summary for HPS4-CABIN1

check button Fusion gene summary
Fusion gene informationFusion gene name: HPS4-CABIN1
Fusion gene ID: 37538
HgeneTgene
Gene symbol

HPS4

CABIN1

Gene ID

89781

23523

Gene nameHPS4 biogenesis of lysosomal organelles complex 3 subunit 2calcineurin binding protein 1
SynonymsBLOC3S2|LECAIN|KB-318B8.7|PPP3IN
Cytomap

22q12.1

22q11.23

Type of geneprotein-codingprotein-coding
DescriptionHermansky-Pudlak syndrome 4 proteinlight-ear protein homologcalcineurin-binding protein cabin-1calcineurin binding protein cabin 1calcineurin inhibitor
Modification date2020032020200313
UniProtAcc

Q9NQG7

Q9Y6J0

Ensembl transtripts involved in fusion geneENST00000336873, ENST00000398141, 
ENST00000398145, ENST00000402105, 
ENST00000493455, 		ENST00000485008, 
ENST00000263119, ENST00000337989, 
ENST00000398319, ENST00000405822, 
Fusion gene scores* DoF score3 X 3 X 3=2713 X 11 X 7=1001
# samples 315
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(15/1001*10)=-2.73840756834011
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HPS4 [Title/Abstract] AND CABIN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHPS4(26875231)-CABIN1(24560368), # samples:3
Anticipated loss of major functional domain due to fusion event.HPS4-CABIN1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneHPS4

GO:0006605

protein targeting

12663659

HgeneHPS4

GO:0007040

lysosome organization

12663659

HgeneHPS4

GO:1903232

melanosome assembly

23084991

TgeneCABIN1

GO:0006336

DNA replication-independent nucleosome assembly

14718166


check buttonFusion gene breakpoints across HPS4 (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 CABIN1 (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 from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4ACCTCGA-OR-A5JY-01AHPS4chr22

26875231

-CABIN1chr22

24560368

+


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Fusion Gene ORF analysis for HPS4-CABIN1

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
5CDS-intronENST00000336873ENST00000485008HPS4chr22

26875231

-CABIN1chr22

24560368

+
5CDS-intronENST00000398141ENST00000485008HPS4chr22

26875231

-CABIN1chr22

24560368

+
5CDS-intronENST00000398145ENST00000485008HPS4chr22

26875231

-CABIN1chr22

24560368

+
5CDS-intronENST00000402105ENST00000485008HPS4chr22

26875231

-CABIN1chr22

24560368

+
Frame-shiftENST00000398145ENST00000263119HPS4chr22

26875231

-CABIN1chr22

24560368

+
Frame-shiftENST00000398145ENST00000337989HPS4chr22

26875231

-CABIN1chr22

24560368

+
Frame-shiftENST00000398145ENST00000398319HPS4chr22

26875231

-CABIN1chr22

24560368

+
Frame-shiftENST00000398145ENST00000405822HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000336873ENST00000263119HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000336873ENST00000337989HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000336873ENST00000398319HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000336873ENST00000405822HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000398141ENST00000263119HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000398141ENST00000337989HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000398141ENST00000398319HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000398141ENST00000405822HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000402105ENST00000263119HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000402105ENST00000337989HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000402105ENST00000398319HPS4chr22

26875231

-CABIN1chr22

24560368

+
In-frameENST00000402105ENST00000405822HPS4chr22

26875231

-CABIN1chr22

24560368

+
intron-3CDSENST00000493455ENST00000263119HPS4chr22

26875231

-CABIN1chr22

24560368

+
intron-3CDSENST00000493455ENST00000337989HPS4chr22

26875231

-CABIN1chr22

24560368

+
intron-3CDSENST00000493455ENST00000398319HPS4chr22

26875231

-CABIN1chr22

24560368

+
intron-3CDSENST00000493455ENST00000405822HPS4chr22

26875231

-CABIN1chr22

24560368

+
intron-intronENST00000493455ENST00000485008HPS4chr22

26875231

-CABIN1chr22

24560368

+

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)
ENST00000398141HPS4chr2226875231-ENST00000263119CABIN1chr2224560368+246611702033677
ENST00000398141HPS4chr2226875231-ENST00000405822CABIN1chr2224560368+246611702033677
ENST00000398141HPS4chr2226875231-ENST00000398319CABIN1chr2224560368+246611702033677
ENST00000398141HPS4chr2226875231-ENST00000337989CABIN1chr2224560368+230011701868622
ENST00000402105HPS4chr2226875231-ENST00000263119CABIN1chr2224560368+27664172462333695
ENST00000402105HPS4chr2226875231-ENST00000405822CABIN1chr2224560368+27664172462333695
ENST00000402105HPS4chr2226875231-ENST00000398319CABIN1chr2224560368+27664172462333695
ENST00000402105HPS4chr2226875231-ENST00000337989CABIN1chr2224560368+26004172462168640
ENST00000336873HPS4chr2226875231-ENST00000263119CABIN1chr2224560368+29906415092557682
ENST00000336873HPS4chr2226875231-ENST00000405822CABIN1chr2224560368+29906415092557682
ENST00000336873HPS4chr2226875231-ENST00000398319CABIN1chr2224560368+29906415092557682
ENST00000336873HPS4chr2226875231-ENST00000337989CABIN1chr2224560368+28246415092392627

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
ENST00000398141ENST00000263119HPS4chr2226875231-CABIN1chr2224560368+0.0221163720.9778836
ENST00000398141ENST00000405822HPS4chr2226875231-CABIN1chr2224560368+0.0221163720.9778836
ENST00000398141ENST00000398319HPS4chr2226875231-CABIN1chr2224560368+0.0221163720.9778836
ENST00000398141ENST00000337989HPS4chr2226875231-CABIN1chr2224560368+0.0244235680.9755764
ENST00000402105ENST00000263119HPS4chr2226875231-CABIN1chr2224560368+0.0119226990.9880773
ENST00000402105ENST00000405822HPS4chr2226875231-CABIN1chr2224560368+0.0119226990.9880773
ENST00000402105ENST00000398319HPS4chr2226875231-CABIN1chr2224560368+0.0119226990.9880773
ENST00000402105ENST00000337989HPS4chr2226875231-CABIN1chr2224560368+0.0131602410.9868398
ENST00000336873ENST00000263119HPS4chr2226875231-CABIN1chr2224560368+0.0114069180.9885931
ENST00000336873ENST00000405822HPS4chr2226875231-CABIN1chr2224560368+0.0114069180.9885931
ENST00000336873ENST00000398319HPS4chr2226875231-CABIN1chr2224560368+0.0114069180.9885931
ENST00000336873ENST00000337989HPS4chr2226875231-CABIN1chr2224560368+0.0140102570.9859897

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Fusion Genomic Features for HPS4-CABIN1


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)
HPS4chr2226875230-CABIN1chr2224560367+9.50E-070.99999905
HPS4chr2226875230-CABIN1chr2224560367+9.50E-070.99999905

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

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for HPS4-CABIN1


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/chr22:26875231/chr22:24560368)
- 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
HPS4

Q9NQG7

CABIN1

Q9Y6J0

FUNCTION: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991). {ECO:0000269|PubMed:23084991}.FUNCTION: May be required for replication-independent chromatin assembly. May serve as a negative regulator of T-cell receptor (TCR) signaling via inhibition of calcineurin. Inhibition of activated calcineurin is dependent on both PKC and calcium signals. Acts as a negative regulator of p53/TP53 by keeping p53 in an inactive state on chromatin at promoters of a subset of it's target genes. {ECO:0000269|PubMed:14718166, ECO:0000269|PubMed:9655484}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCABIN1chr22:26875231chr22:24560368ENST0000026311928371055_108815822221.0RepeatNote=TPR 5
TgeneCABIN1chr22:26875231chr22:24560368ENST0000026311928371106_113915822221.0RepeatNote=TPR 6
TgeneCABIN1chr22:26875231chr22:24560368ENST000002631192837125_15715822221.0RepeatNote=TPR 3
TgeneCABIN1chr22:26875231chr22:24560368ENST00000263119283736_6915822221.0RepeatNote=TPR 1
TgeneCABIN1chr22:26875231chr22:24560368ENST000002631192837615_64815822221.0RepeatNote=TPR 4
TgeneCABIN1chr22:26875231chr22:24560368ENST00000263119283790_12315822221.0RepeatNote=TPR 2
TgeneCABIN1chr22:26875231chr22:24560368ENST0000039831928371055_108815822221.0RepeatNote=TPR 5
TgeneCABIN1chr22:26875231chr22:24560368ENST0000039831928371106_113915822221.0RepeatNote=TPR 6
TgeneCABIN1chr22:26875231chr22:24560368ENST000003983192837125_15715822221.0RepeatNote=TPR 3
TgeneCABIN1chr22:26875231chr22:24560368ENST00000398319283736_6915822221.0RepeatNote=TPR 1
TgeneCABIN1chr22:26875231chr22:24560368ENST000003983192837615_64815822221.0RepeatNote=TPR 4
TgeneCABIN1chr22:26875231chr22:24560368ENST00000398319283790_12315822221.0RepeatNote=TPR 2


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Fusion Gene Sequence for HPS4-CABIN1


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.
>37538_37538_1_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000336873_CABIN1_chr22_24560368_ENST00000263119_length(transcript)=2990nt_BP=641nt
GTGACCTAAGGCCTCTCTGCCGCGCGCGCAGAGCCAAGGCACTGATGTTTGAACTGGAAACTTCAAAACGTTTAATAAGAGTCTTCAGGA
TGGGTTTGAACTAGACAAGCTAGAAATTTCTTTAGAACACCAGCTCTAGCATGCATCTCCCACTTTTGGCTTTCCTGGAGAGGAGCTTGA
AGAGGTGGTTCTGCAGACAGCCACAGTGATACTTAGGAAACCAGAGGAATGGATTTGACTTTTCTGCTAGGATTCTCTGTTATAGTTTCT
CCCTGAGTTGTAAGAGGCATGGAAATATACATGAAACTGAAGAACCTGCAAGGAAGGGAAGTGGAACTTTCCATGCTGAGTGAAAACTAA
CCAAGTGGCAGTTGTGACTGAAAACACTGAAACCTACCACGTCCAGATTCACTGGATTGGGGGATAGAGGAACGGTCACAGCTAGGGAGA
AAGAAGTGATACCGGAAAAGAAAACCTAAATGAAGAGAATGAGGATGACTGCACAGTAGATGGCCACCTCTACCTCCACAGAGGCAAAGT
CAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTT
ATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGACCGGCCGGGCAGCTTTGCCTGGCACATGAACCGCTCCATCGTGCTGC
TGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTGAAGGTGTCCTCCATGCTTCAGCGGACCCCAGACCAGGGCAAGAAGT
ATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTCATCCTCACTGTGAAGGTGCTCGAAGACACGCTGAGCGAGCTCGCAG
AGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGAGCCAGGATGACCACCGATGTCTCACACAAGGCCAGTCCTGAGGATG
GCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGATGGCTCAGGGCCAGGGCCCGAGCCAGGAGGCAAAGTGGGCCTCCTCA
ACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAAAGCGGGGAGCGGAAGGATAAAGAGAGCCCACGGGCAGGGCCCACTG
AGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTGGAGCGGACACCACCCCTGCTGCCAGGTCGCCCCGCAAGGGACCGGG
GCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGCATCAGTGCCCGGCAGCAGCCCACCCCGCTCACCCCAGCCCAGCCAG
CCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGGGGCCACCCGGAGGAGCCGCTCTCCCGGCTCAGCCGCAAGAGGAAGC
TCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCCTACCGTGTGTGGCAGCAGGGCCAGAAGGGTGTGGCCTATGACCTGG
GCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAGCAGGTGGATGAGGAGGCTGCGCTGGAGCAGGCTGTGAAGTTCTGCC
AGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGACACCCCCACCACTCCAAAGCACCCCAAAGACAGCCGAGAGAACTTCT
TTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCTGACTCTGTCCAGCGGCCCAGTGATGCTCACACCAAGCCTCGCCCTG
CACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCATCAGCTTCCACCCTGGACCAGTCCAAGGACCCTGGGCCTCCCCGGC
CACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCAGAGGGAGAAGAGCTGGCGAGAGTGGCAGAGGGCACCAGCTTCCCGC
CTCAGGAGCCACGGCACAGTCCGCAGGTGAAGATGGCCCCCACAAGTTCCCCGGCAGAGCCACACTGCTGGCCGGCAGAGGCTGCCCTGG
GCACAGGCGCTGAGCCCACCTGCAGCCAGGAGGGGAAACTGAGGCCTGAGCCGAGAAGGGATGGGGAGGCTCAGGAGGCTGCGAGTGAGA
CTCAGCCCCTGAGCTCTCCCCCAACAGCTGCCAGCTCCAAGGCCCCCAGCAGTGGGAGTGCCCAGCCACCAGAGGGTCACCCAGGCAAGC
CTGAGCCCAGCCGGGCTAAGTCCCGCCCCCTGCCCAACATGCCAAAGCTGGTCATCCCCTCCGCCGCCACCAAGTTCCCCCCTGAGATCA
CCGTCACGCCACCCACCCCAACCCTGCTCTCCCCCAAAGGCAGCATCTCGGAGGAGACCAAGCAGAAGCTGAAGTCAGCCATCCTTTCTG
CCCAGTCTGCTGCCAACGTGAGGAAGGAGAGCCTATGCCAGCCAGCCCTGGAGGTCCTGGAGACATCCAGCCAGGAGTCCTCGCTGGAGA
GCGAGACAGACGAGGACGACGACTACATGGACATTTGAGGGGCCACTGCAGCCCCACCGCCACGCCCCAGGGGACCAGCCAGGCCTGGAA
TGCCCCCTGGGCAGGACCCTGGGCAGGACCAGAGGCCCACATGGATGCCACTCCCCACACAGCCCCCAGGCCTGCCCAGCCCACCTCCTC
ATGGCATCCTCCCTGTACCCAGGTCAGGCTGTCCACACCACATGGGAGCCCAGAGGAGGAGGGGCCCGCCTTAGCCATGTGAAGGTGGAT
TGGTCGCCATCTGCACGCCAGGCGGCATCCTTTTCTATGAAGTGTTGACTTTGTAAATCTGCCCACACCCAGCTGGCCATATCCACCCCT
CGACGCCGGGATGAGCCGGCTCTGCCTGTGTCACAGTGGAGGGGTCCTTTAGGGCCAGGCTCACCCCTCACCCTTTTTTTGGTTGCTTTT

>37538_37538_1_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000336873_CABIN1_chr22_24560368_ENST00000263119_length(amino acids)=682AA_BP=43
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSM
LQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPG
PEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQ
QPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEE
AALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTL
DQSKDPGPPRPHRPEATPSMASLGPEGEELARVAEGTSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPTCSQEGKLRPEPRR
DGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTPTLLSPKGSISEET

--------------------------------------------------------------
>37538_37538_2_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000336873_CABIN1_chr22_24560368_ENST00000337989_length(transcript)=2824nt_BP=641nt
GTGACCTAAGGCCTCTCTGCCGCGCGCGCAGAGCCAAGGCACTGATGTTTGAACTGGAAACTTCAAAACGTTTAATAAGAGTCTTCAGGA
TGGGTTTGAACTAGACAAGCTAGAAATTTCTTTAGAACACCAGCTCTAGCATGCATCTCCCACTTTTGGCTTTCCTGGAGAGGAGCTTGA
AGAGGTGGTTCTGCAGACAGCCACAGTGATACTTAGGAAACCAGAGGAATGGATTTGACTTTTCTGCTAGGATTCTCTGTTATAGTTTCT
CCCTGAGTTGTAAGAGGCATGGAAATATACATGAAACTGAAGAACCTGCAAGGAAGGGAAGTGGAACTTTCCATGCTGAGTGAAAACTAA
CCAAGTGGCAGTTGTGACTGAAAACACTGAAACCTACCACGTCCAGATTCACTGGATTGGGGGATAGAGGAACGGTCACAGCTAGGGAGA
AAGAAGTGATACCGGAAAAGAAAACCTAAATGAAGAGAATGAGGATGACTGCACAGTAGATGGCCACCTCTACCTCCACAGAGGCAAAGT
CAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTT
ATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGACCGGCCGGGCAGCTTTGCCTGGCACATGAACCGCTCCATCGTGCTGC
TGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTGAAGGTGTCCTCCATGCTTCAGCGGACCCCAGACCAGGGCAAGAAGT
ATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTCATCCTCACTGTGAAGGTGCTCGAAGACACGCTGAGCGAGCTCGCAG
AGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGAGCCAGGATGACCACCGATGTCTCACACAAGGCCAGTCCTGAGGATG
GCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGATGGCTCAGGGCCAGGGCCCGAGCCAGGAGGCAAAGTGGGCCTCCTCA
ACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAAAGCGGGGAGCGGAAGGATAAAGAGAGCCCACGGGCAGGGCCCACTG
AGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTGGAGCGGACACCACCCCTGCTGCCAGGTCGCCCCGCAAGGGACCGGG
GCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGCATCAGTGCCCGGCAGCAGCCCACCCCGCTCACCCCAGCCCAGCCAG
CCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGGGGCCACCCGGAGGAGCCGCTCTCCCGGCTCAGCCGCAAGAGGAAGC
TCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCCTACCGTGTGTGGCAGCAGGGCCAGAAGGGTGTGGCCTATGACCTGG
GCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAGCAGGTGGATGAGGAGGCTGCGCTGGAGCAGGCTGTGAAGTTCTGCC
AGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGACACCCCCACCACTCCAAAGCACCCCAAAGACAGCCGAGAGAACTTCT
TTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCTGACTCTGTCCAGCGGCCCAGTGATGCTCACACCAAGCCTCGCCCTG
CACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCATCAGCTTCCACCCTGGACCAGTCCAAGGACCCTGGGCCTCCCCGGC
CACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCAGAGGGGAAACTGAGGCCTGAGCCGAGAAGGGATGGGGAGGCTCAGG
AGGCTGCGAGTGAGACTCAGCCCCTGAGCTCTCCCCCAACAGCTGCCAGCTCCAAGGCCCCCAGCAGTGGGAGTGCCCAGCCACCAGAGG
GTCACCCAGGCAAGCCTGAGCCCAGCCGGGCTAAGTCCCGCCCCCTGCCCAACATGCCAAAGCTGGTCATCCCCTCCGCCGCCACCAAGT
TCCCCCCTGAGATCACCGTCACGCCACCCACCCCAACCCTGCTCTCCCCCAAAGGCAGCATCTCGGAGGAGACCAAGCAGAAGCTGAAGT
CAGCCATCCTTTCTGCCCAGTCTGCTGCCAACGTGAGGAAGGAGAGCCTATGCCAGCCAGCCCTGGAGGTCCTGGAGACATCCAGCCAGG
AGTCCTCGCTGGAGAGCGAGACAGACGAGGACGACGACTACATGGACATTTGAGGGGCCACTGCAGCCCCACCGCCACGCCCCAGGGGAC
CAGCCAGGCCTGGAATGCCCCCTGGGCAGGACCCTGGGCAGGACCAGAGGCCCACATGGATGCCACTCCCCACACAGCCCCCAGGCCTGC
CCAGCCCACCTCCTCATGGCATCCTCCCTGTACCCAGGTCAGGCTGTCCACACCACATGGGAGCCCAGAGGAGGAGGGGCCCGCCTTAGC
CATGTGAAGGTGGATTGGTCGCCATCTGCACGCCAGGCGGCATCCTTTTCTATGAAGTGTTGACTTTGTAAATCTGCCCACACCCAGCTG
GCCATATCCACCCCTCGACGCCGGGATGAGCCGGCTCTGCCTGTGTCACAGTGGAGGGGTCCTTTAGGGCCAGGCTCACCCCTCACCCTT

>37538_37538_2_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000336873_CABIN1_chr22_24560368_ENST00000337989_length(amino acids)=627AA_BP=43
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSM
LQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPG
PEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQ
QPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEE
AALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTL
DQSKDPGPPRPHRPEATPSMASLGPEGKLRPEPRRDGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMP

--------------------------------------------------------------
>37538_37538_3_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000336873_CABIN1_chr22_24560368_ENST00000398319_length(transcript)=2990nt_BP=641nt
GTGACCTAAGGCCTCTCTGCCGCGCGCGCAGAGCCAAGGCACTGATGTTTGAACTGGAAACTTCAAAACGTTTAATAAGAGTCTTCAGGA
TGGGTTTGAACTAGACAAGCTAGAAATTTCTTTAGAACACCAGCTCTAGCATGCATCTCCCACTTTTGGCTTTCCTGGAGAGGAGCTTGA
AGAGGTGGTTCTGCAGACAGCCACAGTGATACTTAGGAAACCAGAGGAATGGATTTGACTTTTCTGCTAGGATTCTCTGTTATAGTTTCT
CCCTGAGTTGTAAGAGGCATGGAAATATACATGAAACTGAAGAACCTGCAAGGAAGGGAAGTGGAACTTTCCATGCTGAGTGAAAACTAA
CCAAGTGGCAGTTGTGACTGAAAACACTGAAACCTACCACGTCCAGATTCACTGGATTGGGGGATAGAGGAACGGTCACAGCTAGGGAGA
AAGAAGTGATACCGGAAAAGAAAACCTAAATGAAGAGAATGAGGATGACTGCACAGTAGATGGCCACCTCTACCTCCACAGAGGCAAAGT
CAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTT
ATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGACCGGCCGGGCAGCTTTGCCTGGCACATGAACCGCTCCATCGTGCTGC
TGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTGAAGGTGTCCTCCATGCTTCAGCGGACCCCAGACCAGGGCAAGAAGT
ATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTCATCCTCACTGTGAAGGTGCTCGAAGACACGCTGAGCGAGCTCGCAG
AGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGAGCCAGGATGACCACCGATGTCTCACACAAGGCCAGTCCTGAGGATG
GCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGATGGCTCAGGGCCAGGGCCCGAGCCAGGAGGCAAAGTGGGCCTCCTCA
ACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAAAGCGGGGAGCGGAAGGATAAAGAGAGCCCACGGGCAGGGCCCACTG
AGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTGGAGCGGACACCACCCCTGCTGCCAGGTCGCCCCGCAAGGGACCGGG
GCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGCATCAGTGCCCGGCAGCAGCCCACCCCGCTCACCCCAGCCCAGCCAG
CCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGGGGCCACCCGGAGGAGCCGCTCTCCCGGCTCAGCCGCAAGAGGAAGC
TCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCCTACCGTGTGTGGCAGCAGGGCCAGAAGGGTGTGGCCTATGACCTGG
GCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAGCAGGTGGATGAGGAGGCTGCGCTGGAGCAGGCTGTGAAGTTCTGCC
AGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGACACCCCCACCACTCCAAAGCACCCCAAAGACAGCCGAGAGAACTTCT
TTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCTGACTCTGTCCAGCGGCCCAGTGATGCTCACACCAAGCCTCGCCCTG
CACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCATCAGCTTCCACCCTGGACCAGTCCAAGGACCCTGGGCCTCCCCGGC
CACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCAGAGGGAGAAGAGCTGGCGAGAGTGGCAGAGGGCACCAGCTTCCCGC
CTCAGGAGCCACGGCACAGTCCGCAGGTGAAGATGGCCCCCACAAGTTCCCCGGCAGAGCCACACTGCTGGCCGGCAGAGGCTGCCCTGG
GCACAGGCGCTGAGCCCACCTGCAGCCAGGAGGGGAAACTGAGGCCTGAGCCGAGAAGGGATGGGGAGGCTCAGGAGGCTGCGAGTGAGA
CTCAGCCCCTGAGCTCTCCCCCAACAGCTGCCAGCTCCAAGGCCCCCAGCAGTGGGAGTGCCCAGCCACCAGAGGGTCACCCAGGCAAGC
CTGAGCCCAGCCGGGCTAAGTCCCGCCCCCTGCCCAACATGCCAAAGCTGGTCATCCCCTCCGCCGCCACCAAGTTCCCCCCTGAGATCA
CCGTCACGCCACCCACCCCAACCCTGCTCTCCCCCAAAGGCAGCATCTCGGAGGAGACCAAGCAGAAGCTGAAGTCAGCCATCCTTTCTG
CCCAGTCTGCTGCCAACGTGAGGAAGGAGAGCCTATGCCAGCCAGCCCTGGAGGTCCTGGAGACATCCAGCCAGGAGTCCTCGCTGGAGA
GCGAGACAGACGAGGACGACGACTACATGGACATTTGAGGGGCCACTGCAGCCCCACCGCCACGCCCCAGGGGACCAGCCAGGCCTGGAA
TGCCCCCTGGGCAGGACCCTGGGCAGGACCAGAGGCCCACATGGATGCCACTCCCCACACAGCCCCCAGGCCTGCCCAGCCCACCTCCTC
ATGGCATCCTCCCTGTACCCAGGTCAGGCTGTCCACACCACATGGGAGCCCAGAGGAGGAGGGGCCCGCCTTAGCCATGTGAAGGTGGAT
TGGTCGCCATCTGCACGCCAGGCGGCATCCTTTTCTATGAAGTGTTGACTTTGTAAATCTGCCCACACCCAGCTGGCCATATCCACCCCT
CGACGCCGGGATGAGCCGGCTCTGCCTGTGTCACAGTGGAGGGGTCCTTTAGGGCCAGGCTCACCCCTCACCCTTTTTTTGGTTGCTTTT

>37538_37538_3_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000336873_CABIN1_chr22_24560368_ENST00000398319_length(amino acids)=682AA_BP=43
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSM
LQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPG
PEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQ
QPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEE
AALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTL
DQSKDPGPPRPHRPEATPSMASLGPEGEELARVAEGTSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPTCSQEGKLRPEPRR
DGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTPTLLSPKGSISEET

--------------------------------------------------------------
>37538_37538_4_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000336873_CABIN1_chr22_24560368_ENST00000405822_length(transcript)=2990nt_BP=641nt
GTGACCTAAGGCCTCTCTGCCGCGCGCGCAGAGCCAAGGCACTGATGTTTGAACTGGAAACTTCAAAACGTTTAATAAGAGTCTTCAGGA
TGGGTTTGAACTAGACAAGCTAGAAATTTCTTTAGAACACCAGCTCTAGCATGCATCTCCCACTTTTGGCTTTCCTGGAGAGGAGCTTGA
AGAGGTGGTTCTGCAGACAGCCACAGTGATACTTAGGAAACCAGAGGAATGGATTTGACTTTTCTGCTAGGATTCTCTGTTATAGTTTCT
CCCTGAGTTGTAAGAGGCATGGAAATATACATGAAACTGAAGAACCTGCAAGGAAGGGAAGTGGAACTTTCCATGCTGAGTGAAAACTAA
CCAAGTGGCAGTTGTGACTGAAAACACTGAAACCTACCACGTCCAGATTCACTGGATTGGGGGATAGAGGAACGGTCACAGCTAGGGAGA
AAGAAGTGATACCGGAAAAGAAAACCTAAATGAAGAGAATGAGGATGACTGCACAGTAGATGGCCACCTCTACCTCCACAGAGGCAAAGT
CAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTT
ATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGACCGGCCGGGCAGCTTTGCCTGGCACATGAACCGCTCCATCGTGCTGC
TGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTGAAGGTGTCCTCCATGCTTCAGCGGACCCCAGACCAGGGCAAGAAGT
ATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTCATCCTCACTGTGAAGGTGCTCGAAGACACGCTGAGCGAGCTCGCAG
AGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGAGCCAGGATGACCACCGATGTCTCACACAAGGCCAGTCCTGAGGATG
GCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGATGGCTCAGGGCCAGGGCCCGAGCCAGGAGGCAAAGTGGGCCTCCTCA
ACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAAAGCGGGGAGCGGAAGGATAAAGAGAGCCCACGGGCAGGGCCCACTG
AGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTGGAGCGGACACCACCCCTGCTGCCAGGTCGCCCCGCAAGGGACCGGG
GCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGCATCAGTGCCCGGCAGCAGCCCACCCCGCTCACCCCAGCCCAGCCAG
CCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGGGGCCACCCGGAGGAGCCGCTCTCCCGGCTCAGCCGCAAGAGGAAGC
TCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCCTACCGTGTGTGGCAGCAGGGCCAGAAGGGTGTGGCCTATGACCTGG
GCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAGCAGGTGGATGAGGAGGCTGCGCTGGAGCAGGCTGTGAAGTTCTGCC
AGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGACACCCCCACCACTCCAAAGCACCCCAAAGACAGCCGAGAGAACTTCT
TTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCTGACTCTGTCCAGCGGCCCAGTGATGCTCACACCAAGCCTCGCCCTG
CACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCATCAGCTTCCACCCTGGACCAGTCCAAGGACCCTGGGCCTCCCCGGC
CACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCAGAGGGAGAAGAGCTGGCGAGAGTGGCAGAGGGCACCAGCTTCCCGC
CTCAGGAGCCACGGCACAGTCCGCAGGTGAAGATGGCCCCCACAAGTTCCCCGGCAGAGCCACACTGCTGGCCGGCAGAGGCTGCCCTGG
GCACAGGCGCTGAGCCCACCTGCAGCCAGGAGGGGAAACTGAGGCCTGAGCCGAGAAGGGATGGGGAGGCTCAGGAGGCTGCGAGTGAGA
CTCAGCCCCTGAGCTCTCCCCCAACAGCTGCCAGCTCCAAGGCCCCCAGCAGTGGGAGTGCCCAGCCACCAGAGGGTCACCCAGGCAAGC
CTGAGCCCAGCCGGGCTAAGTCCCGCCCCCTGCCCAACATGCCAAAGCTGGTCATCCCCTCCGCCGCCACCAAGTTCCCCCCTGAGATCA
CCGTCACGCCACCCACCCCAACCCTGCTCTCCCCCAAAGGCAGCATCTCGGAGGAGACCAAGCAGAAGCTGAAGTCAGCCATCCTTTCTG
CCCAGTCTGCTGCCAACGTGAGGAAGGAGAGCCTATGCCAGCCAGCCCTGGAGGTCCTGGAGACATCCAGCCAGGAGTCCTCGCTGGAGA
GCGAGACAGACGAGGACGACGACTACATGGACATTTGAGGGGCCACTGCAGCCCCACCGCCACGCCCCAGGGGACCAGCCAGGCCTGGAA
TGCCCCCTGGGCAGGACCCTGGGCAGGACCAGAGGCCCACATGGATGCCACTCCCCACACAGCCCCCAGGCCTGCCCAGCCCACCTCCTC
ATGGCATCCTCCCTGTACCCAGGTCAGGCTGTCCACACCACATGGGAGCCCAGAGGAGGAGGGGCCCGCCTTAGCCATGTGAAGGTGGAT
TGGTCGCCATCTGCACGCCAGGCGGCATCCTTTTCTATGAAGTGTTGACTTTGTAAATCTGCCCACACCCAGCTGGCCATATCCACCCCT
CGACGCCGGGATGAGCCGGCTCTGCCTGTGTCACAGTGGAGGGGTCCTTTAGGGCCAGGCTCACCCCTCACCCTTTTTTTGGTTGCTTTT

>37538_37538_4_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000336873_CABIN1_chr22_24560368_ENST00000405822_length(amino acids)=682AA_BP=43
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSM
LQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPG
PEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQ
QPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEE
AALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTL
DQSKDPGPPRPHRPEATPSMASLGPEGEELARVAEGTSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPTCSQEGKLRPEPRR
DGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTPTLLSPKGSISEET

--------------------------------------------------------------
>37538_37538_5_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000398141_CABIN1_chr22_24560368_ENST00000263119_length(transcript)=2466nt_BP=117nt
ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT
GGCATTTGTTACTTTTATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGACCGGCCGGGCAGCTTTGCCTGGCACATGAAC
CGCTCCATCGTGCTGCTGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTGAAGGTGTCCTCCATGCTTCAGCGGACCCCA
GACCAGGGCAAGAAGTATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTCATCCTCACTGTGAAGGTGCTCGAAGACACG
CTGAGCGAGCTCGCAGAGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGAGCCAGGATGACCACCGATGTCTCACACAAG
GCCAGTCCTGAGGATGGCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGATGGCTCAGGGCCAGGGCCCGAGCCAGGAGGC
AAAGTGGGCCTCCTCAACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAAAGCGGGGAGCGGAAGGATAAAGAGAGCCCA
CGGGCAGGGCCCACTGAGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTGGAGCGGACACCACCCCTGCTGCCAGGTCGC
CCCGCAAGGGACCGGGGCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGCATCAGTGCCCGGCAGCAGCCCACCCCGCTC
ACCCCAGCCCAGCCAGCCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGGGGCCACCCGGAGGAGCCGCTCTCCCGGCTC
AGCCGCAAGAGGAAGCTCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCCTACCGTGTGTGGCAGCAGGGCCAGAAGGGT
GTGGCCTATGACCTGGGCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAGCAGGTGGATGAGGAGGCTGCGCTGGAGCAG
GCTGTGAAGTTCTGCCAGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGACACCCCCACCACTCCAAAGCACCCCAAAGAC
AGCCGAGAGAACTTCTTTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCTGACTCTGTCCAGCGGCCCAGTGATGCTCAC
ACCAAGCCTCGCCCTGCACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCATCAGCTTCCACCCTGGACCAGTCCAAGGAC
CCTGGGCCTCCCCGGCCACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCAGAGGGAGAAGAGCTGGCGAGAGTGGCAGAG
GGCACCAGCTTCCCGCCTCAGGAGCCACGGCACAGTCCGCAGGTGAAGATGGCCCCCACAAGTTCCCCGGCAGAGCCACACTGCTGGCCG
GCAGAGGCTGCCCTGGGCACAGGCGCTGAGCCCACCTGCAGCCAGGAGGGGAAACTGAGGCCTGAGCCGAGAAGGGATGGGGAGGCTCAG
GAGGCTGCGAGTGAGACTCAGCCCCTGAGCTCTCCCCCAACAGCTGCCAGCTCCAAGGCCCCCAGCAGTGGGAGTGCCCAGCCACCAGAG
GGTCACCCAGGCAAGCCTGAGCCCAGCCGGGCTAAGTCCCGCCCCCTGCCCAACATGCCAAAGCTGGTCATCCCCTCCGCCGCCACCAAG
TTCCCCCCTGAGATCACCGTCACGCCACCCACCCCAACCCTGCTCTCCCCCAAAGGCAGCATCTCGGAGGAGACCAAGCAGAAGCTGAAG
TCAGCCATCCTTTCTGCCCAGTCTGCTGCCAACGTGAGGAAGGAGAGCCTATGCCAGCCAGCCCTGGAGGTCCTGGAGACATCCAGCCAG
GAGTCCTCGCTGGAGAGCGAGACAGACGAGGACGACGACTACATGGACATTTGAGGGGCCACTGCAGCCCCACCGCCACGCCCCAGGGGA
CCAGCCAGGCCTGGAATGCCCCCTGGGCAGGACCCTGGGCAGGACCAGAGGCCCACATGGATGCCACTCCCCACACAGCCCCCAGGCCTG
CCCAGCCCACCTCCTCATGGCATCCTCCCTGTACCCAGGTCAGGCTGTCCACACCACATGGGAGCCCAGAGGAGGAGGGGCCCGCCTTAG
CCATGTGAAGGTGGATTGGTCGCCATCTGCACGCCAGGCGGCATCCTTTTCTATGAAGTGTTGACTTTGTAAATCTGCCCACACCCAGCT
GGCCATATCCACCCCTCGACGCCGGGATGAGCCGGCTCTGCCTGTGTCACAGTGGAGGGGTCCTTTAGGGCCAGGCTCACCCCTCACCCT

>37538_37538_5_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000398141_CABIN1_chr22_24560368_ENST00000263119_length(amino acids)=677AA_BP=38
MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSMLQRTP
DQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPGPEPGG
KVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQQPTPL
TPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEEAALEQ
AVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTLDQSKD
PGPPRPHRPEATPSMASLGPEGEELARVAEGTSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPTCSQEGKLRPEPRRDGEAQ
EAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTPTLLSPKGSISEETKQKLK

--------------------------------------------------------------
>37538_37538_6_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000398141_CABIN1_chr22_24560368_ENST00000337989_length(transcript)=2300nt_BP=117nt
ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT
GGCATTTGTTACTTTTATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGACCGGCCGGGCAGCTTTGCCTGGCACATGAAC
CGCTCCATCGTGCTGCTGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTGAAGGTGTCCTCCATGCTTCAGCGGACCCCA
GACCAGGGCAAGAAGTATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTCATCCTCACTGTGAAGGTGCTCGAAGACACG
CTGAGCGAGCTCGCAGAGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGAGCCAGGATGACCACCGATGTCTCACACAAG
GCCAGTCCTGAGGATGGCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGATGGCTCAGGGCCAGGGCCCGAGCCAGGAGGC
AAAGTGGGCCTCCTCAACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAAAGCGGGGAGCGGAAGGATAAAGAGAGCCCA
CGGGCAGGGCCCACTGAGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTGGAGCGGACACCACCCCTGCTGCCAGGTCGC
CCCGCAAGGGACCGGGGCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGCATCAGTGCCCGGCAGCAGCCCACCCCGCTC
ACCCCAGCCCAGCCAGCCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGGGGCCACCCGGAGGAGCCGCTCTCCCGGCTC
AGCCGCAAGAGGAAGCTCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCCTACCGTGTGTGGCAGCAGGGCCAGAAGGGT
GTGGCCTATGACCTGGGCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAGCAGGTGGATGAGGAGGCTGCGCTGGAGCAG
GCTGTGAAGTTCTGCCAGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGACACCCCCACCACTCCAAAGCACCCCAAAGAC
AGCCGAGAGAACTTCTTTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCTGACTCTGTCCAGCGGCCCAGTGATGCTCAC
ACCAAGCCTCGCCCTGCACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCATCAGCTTCCACCCTGGACCAGTCCAAGGAC
CCTGGGCCTCCCCGGCCACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCAGAGGGGAAACTGAGGCCTGAGCCGAGAAGG
GATGGGGAGGCTCAGGAGGCTGCGAGTGAGACTCAGCCCCTGAGCTCTCCCCCAACAGCTGCCAGCTCCAAGGCCCCCAGCAGTGGGAGT
GCCCAGCCACCAGAGGGTCACCCAGGCAAGCCTGAGCCCAGCCGGGCTAAGTCCCGCCCCCTGCCCAACATGCCAAAGCTGGTCATCCCC
TCCGCCGCCACCAAGTTCCCCCCTGAGATCACCGTCACGCCACCCACCCCAACCCTGCTCTCCCCCAAAGGCAGCATCTCGGAGGAGACC
AAGCAGAAGCTGAAGTCAGCCATCCTTTCTGCCCAGTCTGCTGCCAACGTGAGGAAGGAGAGCCTATGCCAGCCAGCCCTGGAGGTCCTG
GAGACATCCAGCCAGGAGTCCTCGCTGGAGAGCGAGACAGACGAGGACGACGACTACATGGACATTTGAGGGGCCACTGCAGCCCCACCG
CCACGCCCCAGGGGACCAGCCAGGCCTGGAATGCCCCCTGGGCAGGACCCTGGGCAGGACCAGAGGCCCACATGGATGCCACTCCCCACA
CAGCCCCCAGGCCTGCCCAGCCCACCTCCTCATGGCATCCTCCCTGTACCCAGGTCAGGCTGTCCACACCACATGGGAGCCCAGAGGAGG
AGGGGCCCGCCTTAGCCATGTGAAGGTGGATTGGTCGCCATCTGCACGCCAGGCGGCATCCTTTTCTATGAAGTGTTGACTTTGTAAATC
TGCCCACACCCAGCTGGCCATATCCACCCCTCGACGCCGGGATGAGCCGGCTCTGCCTGTGTCACAGTGGAGGGGTCCTTTAGGGCCAGG

>37538_37538_6_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000398141_CABIN1_chr22_24560368_ENST00000337989_length(amino acids)=622AA_BP=38
MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSMLQRTP
DQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPGPEPGG
KVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQQPTPL
TPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEEAALEQ
AVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTLDQSKD
PGPPRPHRPEATPSMASLGPEGKLRPEPRRDGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMPKLVIP

--------------------------------------------------------------
>37538_37538_7_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000398141_CABIN1_chr22_24560368_ENST00000398319_length(transcript)=2466nt_BP=117nt
ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT
GGCATTTGTTACTTTTATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGACCGGCCGGGCAGCTTTGCCTGGCACATGAAC
CGCTCCATCGTGCTGCTGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTGAAGGTGTCCTCCATGCTTCAGCGGACCCCA
GACCAGGGCAAGAAGTATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTCATCCTCACTGTGAAGGTGCTCGAAGACACG
CTGAGCGAGCTCGCAGAGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGAGCCAGGATGACCACCGATGTCTCACACAAG
GCCAGTCCTGAGGATGGCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGATGGCTCAGGGCCAGGGCCCGAGCCAGGAGGC
AAAGTGGGCCTCCTCAACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAAAGCGGGGAGCGGAAGGATAAAGAGAGCCCA
CGGGCAGGGCCCACTGAGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTGGAGCGGACACCACCCCTGCTGCCAGGTCGC
CCCGCAAGGGACCGGGGCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGCATCAGTGCCCGGCAGCAGCCCACCCCGCTC
ACCCCAGCCCAGCCAGCCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGGGGCCACCCGGAGGAGCCGCTCTCCCGGCTC
AGCCGCAAGAGGAAGCTCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCCTACCGTGTGTGGCAGCAGGGCCAGAAGGGT
GTGGCCTATGACCTGGGCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAGCAGGTGGATGAGGAGGCTGCGCTGGAGCAG
GCTGTGAAGTTCTGCCAGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGACACCCCCACCACTCCAAAGCACCCCAAAGAC
AGCCGAGAGAACTTCTTTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCTGACTCTGTCCAGCGGCCCAGTGATGCTCAC
ACCAAGCCTCGCCCTGCACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCATCAGCTTCCACCCTGGACCAGTCCAAGGAC
CCTGGGCCTCCCCGGCCACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCAGAGGGAGAAGAGCTGGCGAGAGTGGCAGAG
GGCACCAGCTTCCCGCCTCAGGAGCCACGGCACAGTCCGCAGGTGAAGATGGCCCCCACAAGTTCCCCGGCAGAGCCACACTGCTGGCCG
GCAGAGGCTGCCCTGGGCACAGGCGCTGAGCCCACCTGCAGCCAGGAGGGGAAACTGAGGCCTGAGCCGAGAAGGGATGGGGAGGCTCAG
GAGGCTGCGAGTGAGACTCAGCCCCTGAGCTCTCCCCCAACAGCTGCCAGCTCCAAGGCCCCCAGCAGTGGGAGTGCCCAGCCACCAGAG
GGTCACCCAGGCAAGCCTGAGCCCAGCCGGGCTAAGTCCCGCCCCCTGCCCAACATGCCAAAGCTGGTCATCCCCTCCGCCGCCACCAAG
TTCCCCCCTGAGATCACCGTCACGCCACCCACCCCAACCCTGCTCTCCCCCAAAGGCAGCATCTCGGAGGAGACCAAGCAGAAGCTGAAG
TCAGCCATCCTTTCTGCCCAGTCTGCTGCCAACGTGAGGAAGGAGAGCCTATGCCAGCCAGCCCTGGAGGTCCTGGAGACATCCAGCCAG
GAGTCCTCGCTGGAGAGCGAGACAGACGAGGACGACGACTACATGGACATTTGAGGGGCCACTGCAGCCCCACCGCCACGCCCCAGGGGA
CCAGCCAGGCCTGGAATGCCCCCTGGGCAGGACCCTGGGCAGGACCAGAGGCCCACATGGATGCCACTCCCCACACAGCCCCCAGGCCTG
CCCAGCCCACCTCCTCATGGCATCCTCCCTGTACCCAGGTCAGGCTGTCCACACCACATGGGAGCCCAGAGGAGGAGGGGCCCGCCTTAG
CCATGTGAAGGTGGATTGGTCGCCATCTGCACGCCAGGCGGCATCCTTTTCTATGAAGTGTTGACTTTGTAAATCTGCCCACACCCAGCT
GGCCATATCCACCCCTCGACGCCGGGATGAGCCGGCTCTGCCTGTGTCACAGTGGAGGGGTCCTTTAGGGCCAGGCTCACCCCTCACCCT

>37538_37538_7_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000398141_CABIN1_chr22_24560368_ENST00000398319_length(amino acids)=677AA_BP=38
MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSMLQRTP
DQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPGPEPGG
KVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQQPTPL
TPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEEAALEQ
AVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTLDQSKD
PGPPRPHRPEATPSMASLGPEGEELARVAEGTSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPTCSQEGKLRPEPRRDGEAQ
EAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTPTLLSPKGSISEETKQKLK

--------------------------------------------------------------
>37538_37538_8_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000398141_CABIN1_chr22_24560368_ENST00000405822_length(transcript)=2466nt_BP=117nt
ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT
GGCATTTGTTACTTTTATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGACCGGCCGGGCAGCTTTGCCTGGCACATGAAC
CGCTCCATCGTGCTGCTGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTGAAGGTGTCCTCCATGCTTCAGCGGACCCCA
GACCAGGGCAAGAAGTATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTCATCCTCACTGTGAAGGTGCTCGAAGACACG
CTGAGCGAGCTCGCAGAGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGAGCCAGGATGACCACCGATGTCTCACACAAG
GCCAGTCCTGAGGATGGCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGATGGCTCAGGGCCAGGGCCCGAGCCAGGAGGC
AAAGTGGGCCTCCTCAACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAAAGCGGGGAGCGGAAGGATAAAGAGAGCCCA
CGGGCAGGGCCCACTGAGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTGGAGCGGACACCACCCCTGCTGCCAGGTCGC
CCCGCAAGGGACCGGGGCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGCATCAGTGCCCGGCAGCAGCCCACCCCGCTC
ACCCCAGCCCAGCCAGCCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGGGGCCACCCGGAGGAGCCGCTCTCCCGGCTC
AGCCGCAAGAGGAAGCTCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCCTACCGTGTGTGGCAGCAGGGCCAGAAGGGT
GTGGCCTATGACCTGGGCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAGCAGGTGGATGAGGAGGCTGCGCTGGAGCAG
GCTGTGAAGTTCTGCCAGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGACACCCCCACCACTCCAAAGCACCCCAAAGAC
AGCCGAGAGAACTTCTTTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCTGACTCTGTCCAGCGGCCCAGTGATGCTCAC
ACCAAGCCTCGCCCTGCACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCATCAGCTTCCACCCTGGACCAGTCCAAGGAC
CCTGGGCCTCCCCGGCCACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCAGAGGGAGAAGAGCTGGCGAGAGTGGCAGAG
GGCACCAGCTTCCCGCCTCAGGAGCCACGGCACAGTCCGCAGGTGAAGATGGCCCCCACAAGTTCCCCGGCAGAGCCACACTGCTGGCCG
GCAGAGGCTGCCCTGGGCACAGGCGCTGAGCCCACCTGCAGCCAGGAGGGGAAACTGAGGCCTGAGCCGAGAAGGGATGGGGAGGCTCAG
GAGGCTGCGAGTGAGACTCAGCCCCTGAGCTCTCCCCCAACAGCTGCCAGCTCCAAGGCCCCCAGCAGTGGGAGTGCCCAGCCACCAGAG
GGTCACCCAGGCAAGCCTGAGCCCAGCCGGGCTAAGTCCCGCCCCCTGCCCAACATGCCAAAGCTGGTCATCCCCTCCGCCGCCACCAAG
TTCCCCCCTGAGATCACCGTCACGCCACCCACCCCAACCCTGCTCTCCCCCAAAGGCAGCATCTCGGAGGAGACCAAGCAGAAGCTGAAG
TCAGCCATCCTTTCTGCCCAGTCTGCTGCCAACGTGAGGAAGGAGAGCCTATGCCAGCCAGCCCTGGAGGTCCTGGAGACATCCAGCCAG
GAGTCCTCGCTGGAGAGCGAGACAGACGAGGACGACGACTACATGGACATTTGAGGGGCCACTGCAGCCCCACCGCCACGCCCCAGGGGA
CCAGCCAGGCCTGGAATGCCCCCTGGGCAGGACCCTGGGCAGGACCAGAGGCCCACATGGATGCCACTCCCCACACAGCCCCCAGGCCTG
CCCAGCCCACCTCCTCATGGCATCCTCCCTGTACCCAGGTCAGGCTGTCCACACCACATGGGAGCCCAGAGGAGGAGGGGCCCGCCTTAG
CCATGTGAAGGTGGATTGGTCGCCATCTGCACGCCAGGCGGCATCCTTTTCTATGAAGTGTTGACTTTGTAAATCTGCCCACACCCAGCT
GGCCATATCCACCCCTCGACGCCGGGATGAGCCGGCTCTGCCTGTGTCACAGTGGAGGGGTCCTTTAGGGCCAGGCTCACCCCTCACCCT

>37538_37538_8_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000398141_CABIN1_chr22_24560368_ENST00000405822_length(amino acids)=677AA_BP=38
MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQLRDHSTLLKVSSMLQRTP
DQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQPKKPPLADGSGPGPEPGG
KVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPTELSLEELSISARQQPTPL
TPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIMSETYMLIKQVDEEAALEQ
AVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATTIITCPPSASASTLDQSKD
PGPPRPHRPEATPSMASLGPEGEELARVAEGTSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPTCSQEGKLRPEPRRDGEAQ
EAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTPTLLSPKGSISEETKQKLK

--------------------------------------------------------------
>37538_37538_9_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000402105_CABIN1_chr22_24560368_ENST00000263119_length(transcript)=2766nt_BP=417nt
AGACCATGTGGTTGTATAGTTAAGGTTCAGTGTTTCAAATAAGAGCAGTCATTGTGGGCGCCTCGTTTTTTTTTCTAGCTACTCGTGTCT
TCTCCGGCAGATGGTCTAACGGCTGGATAGAGGCATATTTTTAGTTTGAATTTCCTGCGCTTACAGAATGGTTTTATCTAATTTGTAGCT
ACTGGGGTTCTTTATTCTCTGGGGCCACCTGAAGGCTTTCAAACACAGTAATAAGCCCTCCTCGGGCTGGGAAACAGGAAGCTGTGTTTT
AAATGCCGTGATCACTGGATTAAAGGAAACATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAG
GTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGAC
CGGCCGGGCAGCTTTGCCTGGCACATGAACCGCTCCATCGTGCTGCTGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTG
AAGGTGTCCTCCATGCTTCAGCGGACCCCAGACCAGGGCAAGAAGTATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTC
ATCCTCACTGTGAAGGTGCTCGAAGACACGCTGAGCGAGCTCGCAGAGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGA
GCCAGGATGACCACCGATGTCTCACACAAGGCCAGTCCTGAGGATGGCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGAT
GGCTCAGGGCCAGGGCCCGAGCCAGGAGGCAAAGTGGGCCTCCTCAACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAA
AGCGGGGAGCGGAAGGATAAAGAGAGCCCACGGGCAGGGCCCACTGAGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTG
GAGCGGACACCACCCCTGCTGCCAGGTCGCCCCGCAAGGGACCGGGGCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGC
ATCAGTGCCCGGCAGCAGCCCACCCCGCTCACCCCAGCCCAGCCAGCCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGG
GGCCACCCGGAGGAGCCGCTCTCCCGGCTCAGCCGCAAGAGGAAGCTCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCC
TACCGTGTGTGGCAGCAGGGCCAGAAGGGTGTGGCCTATGACCTGGGCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAG
CAGGTGGATGAGGAGGCTGCGCTGGAGCAGGCTGTGAAGTTCTGCCAGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGAC
ACCCCCACCACTCCAAAGCACCCCAAAGACAGCCGAGAGAACTTCTTTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCT
GACTCTGTCCAGCGGCCCAGTGATGCTCACACCAAGCCTCGCCCTGCACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCA
TCAGCTTCCACCCTGGACCAGTCCAAGGACCCTGGGCCTCCCCGGCCACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCA
GAGGGAGAAGAGCTGGCGAGAGTGGCAGAGGGCACCAGCTTCCCGCCTCAGGAGCCACGGCACAGTCCGCAGGTGAAGATGGCCCCCACA
AGTTCCCCGGCAGAGCCACACTGCTGGCCGGCAGAGGCTGCCCTGGGCACAGGCGCTGAGCCCACCTGCAGCCAGGAGGGGAAACTGAGG
CCTGAGCCGAGAAGGGATGGGGAGGCTCAGGAGGCTGCGAGTGAGACTCAGCCCCTGAGCTCTCCCCCAACAGCTGCCAGCTCCAAGGCC
CCCAGCAGTGGGAGTGCCCAGCCACCAGAGGGTCACCCAGGCAAGCCTGAGCCCAGCCGGGCTAAGTCCCGCCCCCTGCCCAACATGCCA
AAGCTGGTCATCCCCTCCGCCGCCACCAAGTTCCCCCCTGAGATCACCGTCACGCCACCCACCCCAACCCTGCTCTCCCCCAAAGGCAGC
ATCTCGGAGGAGACCAAGCAGAAGCTGAAGTCAGCCATCCTTTCTGCCCAGTCTGCTGCCAACGTGAGGAAGGAGAGCCTATGCCAGCCA
GCCCTGGAGGTCCTGGAGACATCCAGCCAGGAGTCCTCGCTGGAGAGCGAGACAGACGAGGACGACGACTACATGGACATTTGAGGGGCC
ACTGCAGCCCCACCGCCACGCCCCAGGGGACCAGCCAGGCCTGGAATGCCCCCTGGGCAGGACCCTGGGCAGGACCAGAGGCCCACATGG
ATGCCACTCCCCACACAGCCCCCAGGCCTGCCCAGCCCACCTCCTCATGGCATCCTCCCTGTACCCAGGTCAGGCTGTCCACACCACATG
GGAGCCCAGAGGAGGAGGGGCCCGCCTTAGCCATGTGAAGGTGGATTGGTCGCCATCTGCACGCCAGGCGGCATCCTTTTCTATGAAGTG
TTGACTTTGTAAATCTGCCCACACCCAGCTGGCCATATCCACCCCTCGACGCCGGGATGAGCCGGCTCTGCCTGTGTCACAGTGGAGGGG

>37538_37538_9_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000402105_CABIN1_chr22_24560368_ENST00000263119_length(amino acids)=695AA_BP=56
MGNRKLCFKCRDHWIKGNMAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQ
LRDHSTLLKVSSMLQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQ
PKKPPLADGSGPGPEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPT
ELSLEELSISARQQPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIM
SETYMLIKQVDEEAALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATT
IITCPPSASASTLDQSKDPGPPRPHRPEATPSMASLGPEGEELARVAEGTSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPT
CSQEGKLRPEPRRDGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTP

--------------------------------------------------------------
>37538_37538_10_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000402105_CABIN1_chr22_24560368_ENST00000337989_length(transcript)=2600nt_BP=417nt
AGACCATGTGGTTGTATAGTTAAGGTTCAGTGTTTCAAATAAGAGCAGTCATTGTGGGCGCCTCGTTTTTTTTTCTAGCTACTCGTGTCT
TCTCCGGCAGATGGTCTAACGGCTGGATAGAGGCATATTTTTAGTTTGAATTTCCTGCGCTTACAGAATGGTTTTATCTAATTTGTAGCT
ACTGGGGTTCTTTATTCTCTGGGGCCACCTGAAGGCTTTCAAACACAGTAATAAGCCCTCCTCGGGCTGGGAAACAGGAAGCTGTGTTTT
AAATGCCGTGATCACTGGATTAAAGGAAACATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAG
GTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGAC
CGGCCGGGCAGCTTTGCCTGGCACATGAACCGCTCCATCGTGCTGCTGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTG
AAGGTGTCCTCCATGCTTCAGCGGACCCCAGACCAGGGCAAGAAGTATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTC
ATCCTCACTGTGAAGGTGCTCGAAGACACGCTGAGCGAGCTCGCAGAGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGA
GCCAGGATGACCACCGATGTCTCACACAAGGCCAGTCCTGAGGATGGCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGAT
GGCTCAGGGCCAGGGCCCGAGCCAGGAGGCAAAGTGGGCCTCCTCAACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAA
AGCGGGGAGCGGAAGGATAAAGAGAGCCCACGGGCAGGGCCCACTGAGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTG
GAGCGGACACCACCCCTGCTGCCAGGTCGCCCCGCAAGGGACCGGGGCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGC
ATCAGTGCCCGGCAGCAGCCCACCCCGCTCACCCCAGCCCAGCCAGCCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGG
GGCCACCCGGAGGAGCCGCTCTCCCGGCTCAGCCGCAAGAGGAAGCTCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCC
TACCGTGTGTGGCAGCAGGGCCAGAAGGGTGTGGCCTATGACCTGGGCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAG
CAGGTGGATGAGGAGGCTGCGCTGGAGCAGGCTGTGAAGTTCTGCCAGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGAC
ACCCCCACCACTCCAAAGCACCCCAAAGACAGCCGAGAGAACTTCTTTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCT
GACTCTGTCCAGCGGCCCAGTGATGCTCACACCAAGCCTCGCCCTGCACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCA
TCAGCTTCCACCCTGGACCAGTCCAAGGACCCTGGGCCTCCCCGGCCACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCA
GAGGGGAAACTGAGGCCTGAGCCGAGAAGGGATGGGGAGGCTCAGGAGGCTGCGAGTGAGACTCAGCCCCTGAGCTCTCCCCCAACAGCT
GCCAGCTCCAAGGCCCCCAGCAGTGGGAGTGCCCAGCCACCAGAGGGTCACCCAGGCAAGCCTGAGCCCAGCCGGGCTAAGTCCCGCCCC
CTGCCCAACATGCCAAAGCTGGTCATCCCCTCCGCCGCCACCAAGTTCCCCCCTGAGATCACCGTCACGCCACCCACCCCAACCCTGCTC
TCCCCCAAAGGCAGCATCTCGGAGGAGACCAAGCAGAAGCTGAAGTCAGCCATCCTTTCTGCCCAGTCTGCTGCCAACGTGAGGAAGGAG
AGCCTATGCCAGCCAGCCCTGGAGGTCCTGGAGACATCCAGCCAGGAGTCCTCGCTGGAGAGCGAGACAGACGAGGACGACGACTACATG
GACATTTGAGGGGCCACTGCAGCCCCACCGCCACGCCCCAGGGGACCAGCCAGGCCTGGAATGCCCCCTGGGCAGGACCCTGGGCAGGAC
CAGAGGCCCACATGGATGCCACTCCCCACACAGCCCCCAGGCCTGCCCAGCCCACCTCCTCATGGCATCCTCCCTGTACCCAGGTCAGGC
TGTCCACACCACATGGGAGCCCAGAGGAGGAGGGGCCCGCCTTAGCCATGTGAAGGTGGATTGGTCGCCATCTGCACGCCAGGCGGCATC
CTTTTCTATGAAGTGTTGACTTTGTAAATCTGCCCACACCCAGCTGGCCATATCCACCCCTCGACGCCGGGATGAGCCGGCTCTGCCTGT

>37538_37538_10_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000402105_CABIN1_chr22_24560368_ENST00000337989_length(amino acids)=640AA_BP=56
MGNRKLCFKCRDHWIKGNMAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQ
LRDHSTLLKVSSMLQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQ
PKKPPLADGSGPGPEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPT
ELSLEELSISARQQPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIM
SETYMLIKQVDEEAALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATT
IITCPPSASASTLDQSKDPGPPRPHRPEATPSMASLGPEGKLRPEPRRDGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPE
PSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTPTLLSPKGSISEETKQKLKSAILSAQSAANVRKESLCQPALEVLETSSQESSLESE

--------------------------------------------------------------
>37538_37538_11_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000402105_CABIN1_chr22_24560368_ENST00000398319_length(transcript)=2766nt_BP=417nt
AGACCATGTGGTTGTATAGTTAAGGTTCAGTGTTTCAAATAAGAGCAGTCATTGTGGGCGCCTCGTTTTTTTTTCTAGCTACTCGTGTCT
TCTCCGGCAGATGGTCTAACGGCTGGATAGAGGCATATTTTTAGTTTGAATTTCCTGCGCTTACAGAATGGTTTTATCTAATTTGTAGCT
ACTGGGGTTCTTTATTCTCTGGGGCCACCTGAAGGCTTTCAAACACAGTAATAAGCCCTCCTCGGGCTGGGAAACAGGAAGCTGTGTTTT
AAATGCCGTGATCACTGGATTAAAGGAAACATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAG
GTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGAC
CGGCCGGGCAGCTTTGCCTGGCACATGAACCGCTCCATCGTGCTGCTGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTG
AAGGTGTCCTCCATGCTTCAGCGGACCCCAGACCAGGGCAAGAAGTATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTC
ATCCTCACTGTGAAGGTGCTCGAAGACACGCTGAGCGAGCTCGCAGAGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGA
GCCAGGATGACCACCGATGTCTCACACAAGGCCAGTCCTGAGGATGGCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGAT
GGCTCAGGGCCAGGGCCCGAGCCAGGAGGCAAAGTGGGCCTCCTCAACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAA
AGCGGGGAGCGGAAGGATAAAGAGAGCCCACGGGCAGGGCCCACTGAGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTG
GAGCGGACACCACCCCTGCTGCCAGGTCGCCCCGCAAGGGACCGGGGCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGC
ATCAGTGCCCGGCAGCAGCCCACCCCGCTCACCCCAGCCCAGCCAGCCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGG
GGCCACCCGGAGGAGCCGCTCTCCCGGCTCAGCCGCAAGAGGAAGCTCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCC
TACCGTGTGTGGCAGCAGGGCCAGAAGGGTGTGGCCTATGACCTGGGCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAG
CAGGTGGATGAGGAGGCTGCGCTGGAGCAGGCTGTGAAGTTCTGCCAGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGAC
ACCCCCACCACTCCAAAGCACCCCAAAGACAGCCGAGAGAACTTCTTTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCT
GACTCTGTCCAGCGGCCCAGTGATGCTCACACCAAGCCTCGCCCTGCACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCA
TCAGCTTCCACCCTGGACCAGTCCAAGGACCCTGGGCCTCCCCGGCCACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCA
GAGGGAGAAGAGCTGGCGAGAGTGGCAGAGGGCACCAGCTTCCCGCCTCAGGAGCCACGGCACAGTCCGCAGGTGAAGATGGCCCCCACA
AGTTCCCCGGCAGAGCCACACTGCTGGCCGGCAGAGGCTGCCCTGGGCACAGGCGCTGAGCCCACCTGCAGCCAGGAGGGGAAACTGAGG
CCTGAGCCGAGAAGGGATGGGGAGGCTCAGGAGGCTGCGAGTGAGACTCAGCCCCTGAGCTCTCCCCCAACAGCTGCCAGCTCCAAGGCC
CCCAGCAGTGGGAGTGCCCAGCCACCAGAGGGTCACCCAGGCAAGCCTGAGCCCAGCCGGGCTAAGTCCCGCCCCCTGCCCAACATGCCA
AAGCTGGTCATCCCCTCCGCCGCCACCAAGTTCCCCCCTGAGATCACCGTCACGCCACCCACCCCAACCCTGCTCTCCCCCAAAGGCAGC
ATCTCGGAGGAGACCAAGCAGAAGCTGAAGTCAGCCATCCTTTCTGCCCAGTCTGCTGCCAACGTGAGGAAGGAGAGCCTATGCCAGCCA
GCCCTGGAGGTCCTGGAGACATCCAGCCAGGAGTCCTCGCTGGAGAGCGAGACAGACGAGGACGACGACTACATGGACATTTGAGGGGCC
ACTGCAGCCCCACCGCCACGCCCCAGGGGACCAGCCAGGCCTGGAATGCCCCCTGGGCAGGACCCTGGGCAGGACCAGAGGCCCACATGG
ATGCCACTCCCCACACAGCCCCCAGGCCTGCCCAGCCCACCTCCTCATGGCATCCTCCCTGTACCCAGGTCAGGCTGTCCACACCACATG
GGAGCCCAGAGGAGGAGGGGCCCGCCTTAGCCATGTGAAGGTGGATTGGTCGCCATCTGCACGCCAGGCGGCATCCTTTTCTATGAAGTG
TTGACTTTGTAAATCTGCCCACACCCAGCTGGCCATATCCACCCCTCGACGCCGGGATGAGCCGGCTCTGCCTGTGTCACAGTGGAGGGG

>37538_37538_11_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000402105_CABIN1_chr22_24560368_ENST00000398319_length(amino acids)=695AA_BP=56
MGNRKLCFKCRDHWIKGNMAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQ
LRDHSTLLKVSSMLQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQ
PKKPPLADGSGPGPEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPT
ELSLEELSISARQQPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIM
SETYMLIKQVDEEAALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATT
IITCPPSASASTLDQSKDPGPPRPHRPEATPSMASLGPEGEELARVAEGTSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPT
CSQEGKLRPEPRRDGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTP

--------------------------------------------------------------
>37538_37538_12_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000402105_CABIN1_chr22_24560368_ENST00000405822_length(transcript)=2766nt_BP=417nt
AGACCATGTGGTTGTATAGTTAAGGTTCAGTGTTTCAAATAAGAGCAGTCATTGTGGGCGCCTCGTTTTTTTTTCTAGCTACTCGTGTCT
TCTCCGGCAGATGGTCTAACGGCTGGATAGAGGCATATTTTTAGTTTGAATTTCCTGCGCTTACAGAATGGTTTTATCTAATTTGTAGCT
ACTGGGGTTCTTTATTCTCTGGGGCCACCTGAAGGCTTTCAAACACAGTAATAAGCCCTCCTCGGGCTGGGAAACAGGAAGCTGTGTTTT
AAATGCCGTGATCACTGGATTAAAGGAAACATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAG
GTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGGGCATCTGGCGGATCCCCGTGGACGAGATTGAC
CGGCCGGGCAGCTTTGCCTGGCACATGAACCGCTCCATCGTGCTGCTGCTCAAGGTGCTGGCCCAGCTGCGGGACCACAGCACCCTGCTG
AAGGTGTCCTCCATGCTTCAGCGGACCCCAGACCAGGGCAAGAAGTATCTGCGAGATGCTGACCGCCAGGTCCTGGCGCAGCGGGCCTTC
ATCCTCACTGTGAAGGTGCTCGAAGACACGCTGAGCGAGCTCGCAGAGGGGTCAGAACGCCCAGGGCCCAAGGTCTGTGGCCTCCCCGGA
GCCAGGATGACCACCGATGTCTCACACAAGGCCAGTCCTGAGGATGGCCAGGAGGGCCTCCCCCAGCCGAAGAAGCCCCCTCTGGCTGAT
GGCTCAGGGCCAGGGCCCGAGCCAGGAGGCAAAGTGGGCCTCCTCAACCACCGGCCTGTGGCCATGGATGCAGGAGACAGTGCAGACCAA
AGCGGGGAGCGGAAGGATAAAGAGAGCCCACGGGCAGGGCCCACTGAGCCCATGGACACGAGTGAGGCCACTGTTTGCCACTCAGACTTG
GAGCGGACACCACCCCTGCTGCCAGGTCGCCCCGCAAGGGACCGGGGCCCCGAGAGCCGGCCCACTGAGCTGTCCCTGGAGGAGCTGAGC
ATCAGTGCCCGGCAGCAGCCCACCCCGCTCACCCCAGCCCAGCCAGCCCCCGCCCCCGCCCCCGCCACCACCACAGGGACCAGGGCAGGG
GGCCACCCGGAGGAGCCGCTCTCCCGGCTCAGCCGCAAGAGGAAGCTCCTGGAGGACACAGAGTCAGGCAAGACACTTCTGTTGGATGCC
TACCGTGTGTGGCAGCAGGGCCAGAAGGGTGTGGCCTATGACCTGGGCCGTGTGGAGAGGATCATGTCGGAGACCTACATGCTCATCAAG
CAGGTGGATGAGGAGGCTGCGCTGGAGCAGGCTGTGAAGTTCTGCCAGGTCCATCTTGGGGCTGCCGCCCAGAGACAGGCCTCGGGGGAC
ACCCCCACCACTCCAAAGCACCCCAAAGACAGCCGAGAGAACTTCTTTCCTGTGACAGTGGTGCCCACAGCCCCTGACCCTGTGCCAGCT
GACTCTGTCCAGCGGCCCAGTGATGCTCACACCAAGCCTCGCCCTGCACTAGCTGCCGCCACAACTATTATCACCTGCCCTCCGTCAGCA
TCAGCTTCCACCCTGGACCAGTCCAAGGACCCTGGGCCTCCCCGGCCACACAGGCCTGAAGCTACCCCCAGCATGGCCTCTCTGGGCCCA
GAGGGAGAAGAGCTGGCGAGAGTGGCAGAGGGCACCAGCTTCCCGCCTCAGGAGCCACGGCACAGTCCGCAGGTGAAGATGGCCCCCACA
AGTTCCCCGGCAGAGCCACACTGCTGGCCGGCAGAGGCTGCCCTGGGCACAGGCGCTGAGCCCACCTGCAGCCAGGAGGGGAAACTGAGG
CCTGAGCCGAGAAGGGATGGGGAGGCTCAGGAGGCTGCGAGTGAGACTCAGCCCCTGAGCTCTCCCCCAACAGCTGCCAGCTCCAAGGCC
CCCAGCAGTGGGAGTGCCCAGCCACCAGAGGGTCACCCAGGCAAGCCTGAGCCCAGCCGGGCTAAGTCCCGCCCCCTGCCCAACATGCCA
AAGCTGGTCATCCCCTCCGCCGCCACCAAGTTCCCCCCTGAGATCACCGTCACGCCACCCACCCCAACCCTGCTCTCCCCCAAAGGCAGC
ATCTCGGAGGAGACCAAGCAGAAGCTGAAGTCAGCCATCCTTTCTGCCCAGTCTGCTGCCAACGTGAGGAAGGAGAGCCTATGCCAGCCA
GCCCTGGAGGTCCTGGAGACATCCAGCCAGGAGTCCTCGCTGGAGAGCGAGACAGACGAGGACGACGACTACATGGACATTTGAGGGGCC
ACTGCAGCCCCACCGCCACGCCCCAGGGGACCAGCCAGGCCTGGAATGCCCCCTGGGCAGGACCCTGGGCAGGACCAGAGGCCCACATGG
ATGCCACTCCCCACACAGCCCCCAGGCCTGCCCAGCCCACCTCCTCATGGCATCCTCCCTGTACCCAGGTCAGGCTGTCCACACCACATG
GGAGCCCAGAGGAGGAGGGGCCCGCCTTAGCCATGTGAAGGTGGATTGGTCGCCATCTGCACGCCAGGCGGCATCCTTTTCTATGAAGTG
TTGACTTTGTAAATCTGCCCACACCCAGCTGGCCATATCCACCCCTCGACGCCGGGATGAGCCGGCTCTGCCTGTGTCACAGTGGAGGGG

>37538_37538_12_HPS4-CABIN1_HPS4_chr22_26875231_ENST00000402105_CABIN1_chr22_24560368_ENST00000405822_length(amino acids)=695AA_BP=56
MGNRKLCFKCRDHWIKGNMAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQGIWRIPVDEIDRPGSFAWHMNRSIVLLLKVLAQ
LRDHSTLLKVSSMLQRTPDQGKKYLRDADRQVLAQRAFILTVKVLEDTLSELAEGSERPGPKVCGLPGARMTTDVSHKASPEDGQEGLPQ
PKKPPLADGSGPGPEPGGKVGLLNHRPVAMDAGDSADQSGERKDKESPRAGPTEPMDTSEATVCHSDLERTPPLLPGRPARDRGPESRPT
ELSLEELSISARQQPTPLTPAQPAPAPAPATTTGTRAGGHPEEPLSRLSRKRKLLEDTESGKTLLLDAYRVWQQGQKGVAYDLGRVERIM
SETYMLIKQVDEEAALEQAVKFCQVHLGAAAQRQASGDTPTTPKHPKDSRENFFPVTVVPTAPDPVPADSVQRPSDAHTKPRPALAAATT
IITCPPSASASTLDQSKDPGPPRPHRPEATPSMASLGPEGEELARVAEGTSFPPQEPRHSPQVKMAPTSSPAEPHCWPAEAALGTGAEPT
CSQEGKLRPEPRRDGEAQEAASETQPLSSPPTAASSKAPSSGSAQPPEGHPGKPEPSRAKSRPLPNMPKLVIPSAATKFPPEITVTPPTP

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Fusion Gene PPI Analysis for HPS4-CABIN1


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


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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 HPS4-CABIN1


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 HPS4-CABIN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource