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in Kim Lab

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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:TBCD-CSNK1D (FusionGDB2 ID:HG6904TG1453)

Fusion Gene Summary for TBCD-CSNK1D

check button Fusion gene summary
Fusion gene informationFusion gene name: TBCD-CSNK1D
Fusion gene ID: hg6904tg1453
HgeneTgene
Gene symbol

TBCD

CSNK1D

Gene ID

6904

1453

Gene nametubulin folding cofactor Dcasein kinase 1 delta
SynonymsPEBAT|SSD-1|tfcDASPS|CKI-delta|CKId|CKIdelta|FASPS2|HCKID
Cytomap('TBCD')('CSNK1D')

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptiontubulin-specific chaperone Dbeta-tubulin cofactor Dcasein kinase I isoform deltacasein kinase Itau-protein kinase CSNK1D
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000355528, ENST00000539345, 
ENST00000397466, ENST00000576691, 
Fusion gene scores* DoF score20 X 23 X 13=598020 X 19 X 9=3420
# samples 2722
** MAII scorelog2(27/5980*10)=-4.46911417203464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(22/3420*10)=-3.9584208962486
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBCD [Title/Abstract] AND CSNK1D [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTBCD(80710253)-CSNK1D(80223672), # samples:2
Anticipated loss of major functional domain due to fusion event.TBCD-CSNK1D 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.
TBCD-CSNK1D 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.
TBCD-CSNK1D 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.
TBCD-CSNK1D 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.
TBCD-CSNK1D seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
TBCD-CSNK1D seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TBCD-CSNK1D seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
TBCD-CSNK1D seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
TBCD-CSNK1D seems lost the major protein functional domain in Tgene partner, which is a kinase 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
HgeneTBCD

GO:0006457

protein folding

20740604

HgeneTBCD

GO:0007021

tubulin complex assembly

28158450

HgeneTBCD

GO:0007023

post-chaperonin tubulin folding pathway

11847227

HgeneTBCD

GO:0031115

negative regulation of microtubule polymerization

10831612|20740604

TgeneCSNK1D

GO:0006468

protein phosphorylation

16618118

TgeneCSNK1D

GO:0018105

peptidyl-serine phosphorylation

25500533

TgeneCSNK1D

GO:0051225

spindle assembly

10826492


check buttonFusion gene breakpoints across TBCD (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 CSNK1D (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
ChimerDB4UVMTCGA-V4-A9EA-01ATBCDchr17

80710253

+CSNK1Dchr17

80223672

-
ChimerDB4UVMTCGA-V4-A9EATBCDchr17

80710253

+CSNK1Dchr17

80223672

-


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Fusion Gene ORF analysis for TBCD-CSNK1D

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-intronENST00000355528ENST00000578904TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
5CDS-intronENST00000539345ENST00000578904TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
5UTR-3CDSENST00000397466ENST00000314028TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
5UTR-3CDSENST00000397466ENST00000392334TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
5UTR-3CDSENST00000397466ENST00000398519TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
5UTR-intronENST00000397466ENST00000578904TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
Frame-shiftENST00000355528ENST00000392334TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
Frame-shiftENST00000539345ENST00000392334TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
In-frameENST00000355528ENST00000314028TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
In-frameENST00000355528ENST00000398519TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
In-frameENST00000539345ENST00000314028TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
In-frameENST00000539345ENST00000398519TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
intron-3CDSENST00000576691ENST00000314028TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
intron-3CDSENST00000576691ENST00000392334TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
intron-3CDSENST00000576691ENST00000398519TBCDchr17

80710253

+CSNK1Dchr17

80223672

-
intron-intronENST00000576691ENST00000578904TBCDchr17

80710253

+CSNK1Dchr17

80223672

-

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)
ENST00000355528TBCDchr1780710253+ENST00000398519CSNK1Dchr1780223672-17713141301521463
ENST00000355528TBCDchr1780710253+ENST00000314028CSNK1Dchr1780223672-36003141301485451
ENST00000539345TBCDchr1780710253+ENST00000398519CSNK1Dchr1780223672-1677220361427463
ENST00000539345TBCDchr1780710253+ENST00000314028CSNK1Dchr1780223672-3506220361391451

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
ENST00000355528ENST00000398519TBCDchr1780710253+CSNK1Dchr1780223672-0.0124264010.98757356
ENST00000355528ENST00000314028TBCDchr1780710253+CSNK1Dchr1780223672-0.0028440140.997156
ENST00000539345ENST00000398519TBCDchr1780710253+CSNK1Dchr1780223672-0.0107422230.98925775
ENST00000539345ENST00000314028TBCDchr1780710253+CSNK1Dchr1780223672-0.0025037930.9974962

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Fusion Genomic Features for TBCD-CSNK1D


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 TBCD-CSNK1D


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/chr17:80710253/chr17:80223672)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgeneCSNK1Dchr17:80710253chr17:80223672ENST0000031402809278_36425416.0RegionNote=Centrosomal localization signal (CLS)
TgeneCSNK1Dchr17:80710253chr17:80223672ENST0000031402809317_34225416.0RegionAutoinhibitory
TgeneCSNK1Dchr17:80710253chr17:80223672ENST00000392334010278_36425420.3333333333333RegionNote=Centrosomal localization signal (CLS)
TgeneCSNK1Dchr17:80710253chr17:80223672ENST00000392334010317_34225420.3333333333333RegionAutoinhibitory

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTBCDchr17:80710253chr17:80223672ENST00000355528+139361_399611193.0RepeatNote=HEAT 1
HgeneTBCDchr17:80710253chr17:80223672ENST00000355528+139557_594611193.0RepeatNote=HEAT 2
HgeneTBCDchr17:80710253chr17:80223672ENST00000355528+139596_632611193.0RepeatNote=HEAT 3
TgeneCSNK1Dchr17:80710253chr17:80223672ENST00000314028099_27725416.0DomainProtein kinase
TgeneCSNK1Dchr17:80710253chr17:80223672ENST000003923340109_27725420.3333333333333DomainProtein kinase
TgeneCSNK1Dchr17:80710253chr17:80223672ENST000003140280915_2325416.0Nucleotide bindingATP
TgeneCSNK1Dchr17:80710253chr17:80223672ENST0000039233401015_2325420.3333333333333Nucleotide bindingATP


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Fusion Gene Sequence for TBCD-CSNK1D


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.
>89464_89464_1_TBCD-CSNK1D_TBCD_chr17_80710253_ENST00000355528_CSNK1D_chr17_80223672_ENST00000314028_length(transcript)=3600nt_BP=314nt
GGCCAGCGTCGGTTGCCGCCTTAGCGGGCGCCTCCTTTTCATCCCTCATCCTTCATCCCTGGCTTTCGCGCTCTAGCGGAGTGGGATCTG
CGAACACGTGAGGCGGGGGCGCGGTCCCCAGGCTGCCGAGATGGCCCTGAGCGACGAACCGGCCGCGGGCGGCCCCGAGGAGGAGGCGGA
GGACGAGACACTGGCCTTTGGCGCGGCGCTGGAAGCGTTCGGCGAGAGCGCGGAGACCCGGGCGCTGCTGGGCCGCCTGCGGGAGGTGCA
CGGCGGCGGCGCGGAGCGCGAGGTGGCCCTGGAGCGGTTCCGCGGTACGGACATTGCTGCAGGAGAAGAGGTTGCCATCAAGCTTGAATG
TGTCAAAACCAAACACCCTCAGCTCCACATTGAGAGCAAAATCTACAAGATGATGCAGGGAGGAGTGGGCATCCCCACCATCAGATGGTG
CGGGGCAGAGGGGGACTACAACGTCATGGTGATGGAGCTGCTGGGGCCAAGCCTGGAGGACCTCTTCAACTTCTGCTCCAGGAAATTCAG
CCTCAAAACCGTCCTGCTGCTTGCTGACCAAATGATCAGTCGCATCGAATACATTCATTCAAAGAACTTCATCCACCGGGATGTGAAGCC
AGACAACTTCCTCATGGGCCTGGGGAAGAAGGGCAACCTGGTGTACATCATCGACTTCGGGCTGGCCAAGAAGTACCGGGATGCACGCAC
CCACCAGCACATCCCCTATCGTGAGAACAAGAACCTCACGGGGACGGCGCGGTACGCCTCCATCAACACGCACCTTGGAATTGAACAATC
CCGAAGAGATGACTTGGAGTCTCTGGGCTACGTGCTAATGTACTTCAACCTGGGCTCTCTCCCCTGGCAGGGGCTGAAGGCTGCCACCAA
GAGACAGAAATACGAAAGGATTAGCGAGAAGAAAATGTCCACCCCCATCGAAGTGTTGTGTAAAGGCTACCCTTCCGAATTTGCCACATA
CCTGAATTTCTGCCGTTCCTTGCGTTTTGACGACAAGCCTGACTACTCGTACCTGCGGCAGCTTTTCCGGAATCTGTTCCATCGCCAGGG
CTTCTCCTATGACTACGTGTTCGACTGGAACATGCTCAAATTTGGTGCCAGCCGGGCCGCCGATGACGCCGAGCGGGAGCGCAGGGACCG
AGAGGAGCGGCTGAGACACTCGCGGAACCCGGCTACCCGCGGCCTCCCTTCCACAGCCTCCGGCCGCCTGCGGGGGACGCAGGAAGTGGC
TCCCCCCACACCCCTCACCCCTACCTCACACACGGCTAACACCTCCCCCCGGCCCGTCTCCGGCATGGAGAGAGAGCGGAAAGTGAGTAT
GCGGCTGCACCGCGGGGCCCCCGTCAACATCTCCTCGTCCGACCTCACAGGCCGACAAGATACCTCTCGCATGTCCACCTCACAGATTCC
TGGTCGGGTGGCTTCCAGTGGTCTTCAGTCTGTCGTGCACCGATGAGAACTCTCCTTATTGCTGTGAAGGGCAGACAATGCATGGCTGAT
CTACTCTGTTACCAATGGCTTTACTAGTGACACGTCCCCCGGTCTAGGATCGAAATGTTAACACCGGGAGCTCTCCAGGCCACTCACCCA
GCGACGCTCGTGGGGGAAACATACTAAACGGACAGACTCCAAGAGCTGCCACCGCTGGGGCTGCACTGCGGCCCCCCACGTGAACTCGGT
TGTAACGGGGCTGGGAAGAAAAGCAGAGAGAGAATTGCAGAGAATCAGACTCCTTTTCCAGGGCCTCAGCTCCCTCCAGTGGTGGCCGCC
CTGTACTCCCTGACGATTCCACTGTAACTACCAATCTTCTACTTGGTTAAGACAGTTTTGTATCATTTTGCTAAAAATTATTGGCTTAAA
TCTGTGTAAAGAAAATCTGTCTTTTTATTGTTTCTTGTCTGTTTTTGCAGTCTTACAAAAAAAATGTTGACTAAGGAATTCTGAGACAGG
CTGGCTTGGAGTTAGTGTATGAGGTGGAGTCGGGCAGGGAGAAGGTGCAGGTGGATCTCAAGGGTGTGTGCTGTGTTTGTTTTGCAGTGT
TTTATTGTCCGCTTTGGAGAGGAGATTTCTCATCAAAAGTCCGTGGTGTGTGTGTGTGCCCGTGTGTGGTGGGACCTCTTCAACCTGATT
TTGGCGTCTCACCCTCCCTCCTCCCGTAATTGACATGCCTGCTGTCAGGAACTCTTGAGGCCCTCGGAGAGCAGTTAGGGACCGCAGGCT
GCCGCGGGGCAGGGGTGCAGTGGGTGTTACCAGGCAAAGCACTGCGCGCTTCTTCCCCAGGAGGTGGGCAGGCAGCTGAGAGCTTGGAAG
CAGAGGCTTTGAGACCCTAGCAGGACAATTGGGAGTCCCAGGATTCAAGGTGGAAGATGCGTTTCTGGTCCCTTGGGAGAGGACTGTGAA
CCGAGAGGTGGTTACTGTAGTGTTTGTTGCCTTGCTGCCTTTGCACTCAGTCCATTTTCTCAGCACTCAATGCTCCTGTGCGGATTGGCA
CTCCGTCTGTATGAATGCCTGTGCTTAAAACCAGGAGCGGGGCTGTCCTTGCCACGTGCCAAGACTAGCTCAGAAAAGCCGGCAGGCCAG
AAGGACCCACCCTGAGGTGCCAAGGAGCAGGTGACTCTCCCAACCGGACCCAGAACCTTCACGGCCAGAAAGTAGAGTCTGCGCTGTGAC
CTTCTGTTGGGCGCGTGTCTGTTGGTCAGAAGTGAAGCAGCGTGCGTGGGGCCGAGTCCCACCAGAAGGCAGGTGGCCTCCGTGAGCTGG
TGCTGCCCCAGGCTCCATGCTGCTGTGCCCTGAGGTTCCCAGGATGCCTTCTCGCCTCTCACTCCGCAGCACTTGGGCGGTAGCCAGTGG
CCATGTGCTCCCAACCCCAATGCGCAGGGCAGTCTGTGTTCGTGGGCACTTCGGCTGGACCCCATCACGATGGACGATGTTCCCTTTGGA
CTCTAGGGCTTCGAAGGTGTGCACCTTGGTTCTCCCTTCTCCTCCCCAGAGTTCCCCGGATGCCATAACTGGCTGGCGTCCCAGAACACA
GTTGTTCACCCCCCCACCAGCTGGCTGGCCGTCTGCCTGAGCCCATGGATGCTTTCTCAATCCTAGGCTGGTTACTGTGTAAGCGTTTTG
GAGTACGGGGCCTTGAGCGGGTGGGAGCTGTGTGTTGAAGTACAGAGGGAGGTTGGGGTGGGTCAGAGCCGAGTTAAGAGATTTTCTTTG
TTGCTGGACCCCTTCTTGAAGGTAGACGTCCCCCACCCGGAGAGACGTCGCGCTGTGGCCTGAAGTGGCGCAAGCTTGCTTTGTAAATAT
CTGTGGTCCCGATGTAGTGCCCAGAACGTTTGTGCGAGGCAGCTCTGCGCCCGGGTTCCAGCCCGAGCCTCGCCGGGTCGCGTCTTCGGA
GTGCTTGTGACAGTCCTTGCCCAGTATCTAGTCCCCGTCGCCCCGTGCAGGAGACGTAGGTAGGACGTCGTGTCAGCTGTGCACTGACGG
CCAGTCTCCGAGCTGTGCGTTTGTATCGCCACTGTATTTGTGTACTTTAACAATCGTGTAAATAATAAATTCATAATGACTTCTACCTTT


>89464_89464_1_TBCD-CSNK1D_TBCD_chr17_80710253_ENST00000355528_CSNK1D_chr17_80223672_ENST00000314028_length(amino acids)=451AA_BP=61
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRGTDIAAGEEVAIKLECVKTKHPQLHIESK
IYKMMQGGVGIPTIRWCGAEGDYNVMVMELLGPSLEDLFNFCSRKFSLKTVLLLADQMISRIEYIHSKNFIHRDVKPDNFLMGLGKKGNL
VYIIDFGLAKKYRDARTHQHIPYRENKNLTGTARYASINTHLGIEQSRRDDLESLGYVLMYFNLGSLPWQGLKAATKRQKYERISEKKMS
TPIEVLCKGYPSEFATYLNFCRSLRFDDKPDYSYLRQLFRNLFHRQGFSYDYVFDWNMLKFGASRAADDAERERRDREERLRHSRNPATR
GLPSTASGRLRGTQEVAPPTPLTPTSHTANTSPRPVSGMERERKVSMRLHRGAPVNISSSDLTGRQDTSRMSTSQIPGRVASSGLQSVVH
R

--------------------------------------------------------------
>89464_89464_2_TBCD-CSNK1D_TBCD_chr17_80710253_ENST00000355528_CSNK1D_chr17_80223672_ENST00000398519_length(transcript)=1771nt_BP=314nt
GGCCAGCGTCGGTTGCCGCCTTAGCGGGCGCCTCCTTTTCATCCCTCATCCTTCATCCCTGGCTTTCGCGCTCTAGCGGAGTGGGATCTG
CGAACACGTGAGGCGGGGGCGCGGTCCCCAGGCTGCCGAGATGGCCCTGAGCGACGAACCGGCCGCGGGCGGCCCCGAGGAGGAGGCGGA
GGACGAGACACTGGCCTTTGGCGCGGCGCTGGAAGCGTTCGGCGAGAGCGCGGAGACCCGGGCGCTGCTGGGCCGCCTGCGGGAGGTGCA
CGGCGGCGGCGCGGAGCGCGAGGTGGCCCTGGAGCGGTTCCGCGGTACGGACATTGCTGCAGGAGAAGAGGTTGCCATCAAGCTTGAATG
TGTCAAAACCAAACACCCTCAGCTCCACATTGAGAGCAAAATCTACAAGATGATGCAGGGAGGAGTGGGCATCCCCACCATCAGATGGTG
CGGGGCAGAGGGGGACTACAACGTCATGGTGATGGAGCTGCTGGGGCCAAGCCTGGAGGACCTCTTCAACTTCTGCTCCAGGAAATTCAG
CCTCAAAACCGTCCTGCTGCTTGCTGACCAAATGATCAGTCGCATCGAATACATTCATTCAAAGAACTTCATCCACCGGGATGTGAAGCC
AGACAACTTCCTCATGGGCCTGGGGAAGAAGGGCAACCTGGTGTACATCATCGACTTCGGGCTGGCCAAGAAGTACCGGGATGCACGCAC
CCACCAGCACATCCCCTATCGTGAGAACAAGAACCTCACGGGGACGGCGCGGTACGCCTCCATCAACACGCACCTTGGAATTGAACAATC
CCGAAGAGATGACTTGGAGTCTCTGGGCTACGTGCTAATGTACTTCAACCTGGGCTCTCTCCCCTGGCAGGGGCTGAAGGCTGCCACCAA
GAGACAGAAATACGAAAGGATTAGCGAGAAGAAAATGTCCACCCCCATCGAAGTGTTGTGTAAAGGCTACCCTTCCGAATTTGCCACATA
CCTGAATTTCTGCCGTTCCTTGCGTTTTGACGACAAGCCTGACTACTCGTACCTGCGGCAGCTTTTCCGGAATCTGTTCCATCGCCAGGG
CTTCTCCTATGACTACGTGTTCGACTGGAACATGCTCAAATTTGGTGCCAGCCGGGCCGCCGATGACGCCGAGCGGGAGCGCAGGGACCG
AGAGGAGCGGCTGAGACACTCGCGGAACCCGGCTACCCGCGGCCTCCCTTCCACAGCCTCCGGCCGCCTGCGGGGGACGCAGGAAGTGGC
TCCCCCCACACCCCTCACCCCTACCTCACACACGGCTAACACCTCCCCCCGGCCCGTCTCCGGCATGGAGAGAGAGCGGAAAGTGAGTAT
GCGGCTGCACCGCGGGGCCCCCGTCAACATCTCCTCGTCCGACCTCACAGGCCGACAAGATACCTCTCGCATGTCCACCTCACAGAGGAG
CAGGGACATGGCATCTCTCCGGCTGCACGCGGCCCGCCAGGGCACCCGCTGCCGTCCCCAGCGCCCACGACGCACCTACTGAGGGCCCCG
GCGGCCTCTGACCGGGCTCCCAGCCACGCAGGCCACTGCTGGCCACGAGGGCAGGTGGGTGTTAGGTGTCCAGGACAAGCCCAAGCGCTG
GGCCGGGCTGGATGGAGGACAGGGTGCAAAGACCAGCCCTGGGCACTGACCACACCACGCACACTGCCAGCCAGGCAGAGGGGCGAAAAA
GGGAAGGCAGGAGGGTCCTGTTTCTTAAACACAGCAGTGAATAAAGTGGCTTGTTCCACCT

>89464_89464_2_TBCD-CSNK1D_TBCD_chr17_80710253_ENST00000355528_CSNK1D_chr17_80223672_ENST00000398519_length(amino acids)=463AA_BP=61
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRGTDIAAGEEVAIKLECVKTKHPQLHIESK
IYKMMQGGVGIPTIRWCGAEGDYNVMVMELLGPSLEDLFNFCSRKFSLKTVLLLADQMISRIEYIHSKNFIHRDVKPDNFLMGLGKKGNL
VYIIDFGLAKKYRDARTHQHIPYRENKNLTGTARYASINTHLGIEQSRRDDLESLGYVLMYFNLGSLPWQGLKAATKRQKYERISEKKMS
TPIEVLCKGYPSEFATYLNFCRSLRFDDKPDYSYLRQLFRNLFHRQGFSYDYVFDWNMLKFGASRAADDAERERRDREERLRHSRNPATR
GLPSTASGRLRGTQEVAPPTPLTPTSHTANTSPRPVSGMERERKVSMRLHRGAPVNISSSDLTGRQDTSRMSTSQRSRDMASLRLHAARQ
GTRCRPQRPRRTY

--------------------------------------------------------------
>89464_89464_3_TBCD-CSNK1D_TBCD_chr17_80710253_ENST00000539345_CSNK1D_chr17_80223672_ENST00000314028_length(transcript)=3506nt_BP=220nt
CACGTGAGGCGGGGGCGCGGTCCCCAGGCTGCCGAGATGGCCCTGAGCGACGAACCGGCCGCGGGCGGCCCCGAGGAGGAGGCGGAGGAC
GAGACACTGGCCTTTGGCGCGGCGCTGGAAGCGTTCGGCGAGAGCGCGGAGACCCGGGCGCTGCTGGGCCGCCTGCGGGAGGTGCACGGC
GGCGGCGCGGAGCGCGAGGTGGCCCTGGAGCGGTTCCGCGGTACGGACATTGCTGCAGGAGAAGAGGTTGCCATCAAGCTTGAATGTGTC
AAAACCAAACACCCTCAGCTCCACATTGAGAGCAAAATCTACAAGATGATGCAGGGAGGAGTGGGCATCCCCACCATCAGATGGTGCGGG
GCAGAGGGGGACTACAACGTCATGGTGATGGAGCTGCTGGGGCCAAGCCTGGAGGACCTCTTCAACTTCTGCTCCAGGAAATTCAGCCTC
AAAACCGTCCTGCTGCTTGCTGACCAAATGATCAGTCGCATCGAATACATTCATTCAAAGAACTTCATCCACCGGGATGTGAAGCCAGAC
AACTTCCTCATGGGCCTGGGGAAGAAGGGCAACCTGGTGTACATCATCGACTTCGGGCTGGCCAAGAAGTACCGGGATGCACGCACCCAC
CAGCACATCCCCTATCGTGAGAACAAGAACCTCACGGGGACGGCGCGGTACGCCTCCATCAACACGCACCTTGGAATTGAACAATCCCGA
AGAGATGACTTGGAGTCTCTGGGCTACGTGCTAATGTACTTCAACCTGGGCTCTCTCCCCTGGCAGGGGCTGAAGGCTGCCACCAAGAGA
CAGAAATACGAAAGGATTAGCGAGAAGAAAATGTCCACCCCCATCGAAGTGTTGTGTAAAGGCTACCCTTCCGAATTTGCCACATACCTG
AATTTCTGCCGTTCCTTGCGTTTTGACGACAAGCCTGACTACTCGTACCTGCGGCAGCTTTTCCGGAATCTGTTCCATCGCCAGGGCTTC
TCCTATGACTACGTGTTCGACTGGAACATGCTCAAATTTGGTGCCAGCCGGGCCGCCGATGACGCCGAGCGGGAGCGCAGGGACCGAGAG
GAGCGGCTGAGACACTCGCGGAACCCGGCTACCCGCGGCCTCCCTTCCACAGCCTCCGGCCGCCTGCGGGGGACGCAGGAAGTGGCTCCC
CCCACACCCCTCACCCCTACCTCACACACGGCTAACACCTCCCCCCGGCCCGTCTCCGGCATGGAGAGAGAGCGGAAAGTGAGTATGCGG
CTGCACCGCGGGGCCCCCGTCAACATCTCCTCGTCCGACCTCACAGGCCGACAAGATACCTCTCGCATGTCCACCTCACAGATTCCTGGT
CGGGTGGCTTCCAGTGGTCTTCAGTCTGTCGTGCACCGATGAGAACTCTCCTTATTGCTGTGAAGGGCAGACAATGCATGGCTGATCTAC
TCTGTTACCAATGGCTTTACTAGTGACACGTCCCCCGGTCTAGGATCGAAATGTTAACACCGGGAGCTCTCCAGGCCACTCACCCAGCGA
CGCTCGTGGGGGAAACATACTAAACGGACAGACTCCAAGAGCTGCCACCGCTGGGGCTGCACTGCGGCCCCCCACGTGAACTCGGTTGTA
ACGGGGCTGGGAAGAAAAGCAGAGAGAGAATTGCAGAGAATCAGACTCCTTTTCCAGGGCCTCAGCTCCCTCCAGTGGTGGCCGCCCTGT
ACTCCCTGACGATTCCACTGTAACTACCAATCTTCTACTTGGTTAAGACAGTTTTGTATCATTTTGCTAAAAATTATTGGCTTAAATCTG
TGTAAAGAAAATCTGTCTTTTTATTGTTTCTTGTCTGTTTTTGCAGTCTTACAAAAAAAATGTTGACTAAGGAATTCTGAGACAGGCTGG
CTTGGAGTTAGTGTATGAGGTGGAGTCGGGCAGGGAGAAGGTGCAGGTGGATCTCAAGGGTGTGTGCTGTGTTTGTTTTGCAGTGTTTTA
TTGTCCGCTTTGGAGAGGAGATTTCTCATCAAAAGTCCGTGGTGTGTGTGTGTGCCCGTGTGTGGTGGGACCTCTTCAACCTGATTTTGG
CGTCTCACCCTCCCTCCTCCCGTAATTGACATGCCTGCTGTCAGGAACTCTTGAGGCCCTCGGAGAGCAGTTAGGGACCGCAGGCTGCCG
CGGGGCAGGGGTGCAGTGGGTGTTACCAGGCAAAGCACTGCGCGCTTCTTCCCCAGGAGGTGGGCAGGCAGCTGAGAGCTTGGAAGCAGA
GGCTTTGAGACCCTAGCAGGACAATTGGGAGTCCCAGGATTCAAGGTGGAAGATGCGTTTCTGGTCCCTTGGGAGAGGACTGTGAACCGA
GAGGTGGTTACTGTAGTGTTTGTTGCCTTGCTGCCTTTGCACTCAGTCCATTTTCTCAGCACTCAATGCTCCTGTGCGGATTGGCACTCC
GTCTGTATGAATGCCTGTGCTTAAAACCAGGAGCGGGGCTGTCCTTGCCACGTGCCAAGACTAGCTCAGAAAAGCCGGCAGGCCAGAAGG
ACCCACCCTGAGGTGCCAAGGAGCAGGTGACTCTCCCAACCGGACCCAGAACCTTCACGGCCAGAAAGTAGAGTCTGCGCTGTGACCTTC
TGTTGGGCGCGTGTCTGTTGGTCAGAAGTGAAGCAGCGTGCGTGGGGCCGAGTCCCACCAGAAGGCAGGTGGCCTCCGTGAGCTGGTGCT
GCCCCAGGCTCCATGCTGCTGTGCCCTGAGGTTCCCAGGATGCCTTCTCGCCTCTCACTCCGCAGCACTTGGGCGGTAGCCAGTGGCCAT
GTGCTCCCAACCCCAATGCGCAGGGCAGTCTGTGTTCGTGGGCACTTCGGCTGGACCCCATCACGATGGACGATGTTCCCTTTGGACTCT
AGGGCTTCGAAGGTGTGCACCTTGGTTCTCCCTTCTCCTCCCCAGAGTTCCCCGGATGCCATAACTGGCTGGCGTCCCAGAACACAGTTG
TTCACCCCCCCACCAGCTGGCTGGCCGTCTGCCTGAGCCCATGGATGCTTTCTCAATCCTAGGCTGGTTACTGTGTAAGCGTTTTGGAGT
ACGGGGCCTTGAGCGGGTGGGAGCTGTGTGTTGAAGTACAGAGGGAGGTTGGGGTGGGTCAGAGCCGAGTTAAGAGATTTTCTTTGTTGC
TGGACCCCTTCTTGAAGGTAGACGTCCCCCACCCGGAGAGACGTCGCGCTGTGGCCTGAAGTGGCGCAAGCTTGCTTTGTAAATATCTGT
GGTCCCGATGTAGTGCCCAGAACGTTTGTGCGAGGCAGCTCTGCGCCCGGGTTCCAGCCCGAGCCTCGCCGGGTCGCGTCTTCGGAGTGC
TTGTGACAGTCCTTGCCCAGTATCTAGTCCCCGTCGCCCCGTGCAGGAGACGTAGGTAGGACGTCGTGTCAGCTGTGCACTGACGGCCAG
TCTCCGAGCTGTGCGTTTGTATCGCCACTGTATTTGTGTACTTTAACAATCGTGTAAATAATAAATTCATAATGACTTCTACCTTT

>89464_89464_3_TBCD-CSNK1D_TBCD_chr17_80710253_ENST00000539345_CSNK1D_chr17_80223672_ENST00000314028_length(amino acids)=451AA_BP=61
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRGTDIAAGEEVAIKLECVKTKHPQLHIESK
IYKMMQGGVGIPTIRWCGAEGDYNVMVMELLGPSLEDLFNFCSRKFSLKTVLLLADQMISRIEYIHSKNFIHRDVKPDNFLMGLGKKGNL
VYIIDFGLAKKYRDARTHQHIPYRENKNLTGTARYASINTHLGIEQSRRDDLESLGYVLMYFNLGSLPWQGLKAATKRQKYERISEKKMS
TPIEVLCKGYPSEFATYLNFCRSLRFDDKPDYSYLRQLFRNLFHRQGFSYDYVFDWNMLKFGASRAADDAERERRDREERLRHSRNPATR
GLPSTASGRLRGTQEVAPPTPLTPTSHTANTSPRPVSGMERERKVSMRLHRGAPVNISSSDLTGRQDTSRMSTSQIPGRVASSGLQSVVH
R

--------------------------------------------------------------
>89464_89464_4_TBCD-CSNK1D_TBCD_chr17_80710253_ENST00000539345_CSNK1D_chr17_80223672_ENST00000398519_length(transcript)=1677nt_BP=220nt
CACGTGAGGCGGGGGCGCGGTCCCCAGGCTGCCGAGATGGCCCTGAGCGACGAACCGGCCGCGGGCGGCCCCGAGGAGGAGGCGGAGGAC
GAGACACTGGCCTTTGGCGCGGCGCTGGAAGCGTTCGGCGAGAGCGCGGAGACCCGGGCGCTGCTGGGCCGCCTGCGGGAGGTGCACGGC
GGCGGCGCGGAGCGCGAGGTGGCCCTGGAGCGGTTCCGCGGTACGGACATTGCTGCAGGAGAAGAGGTTGCCATCAAGCTTGAATGTGTC
AAAACCAAACACCCTCAGCTCCACATTGAGAGCAAAATCTACAAGATGATGCAGGGAGGAGTGGGCATCCCCACCATCAGATGGTGCGGG
GCAGAGGGGGACTACAACGTCATGGTGATGGAGCTGCTGGGGCCAAGCCTGGAGGACCTCTTCAACTTCTGCTCCAGGAAATTCAGCCTC
AAAACCGTCCTGCTGCTTGCTGACCAAATGATCAGTCGCATCGAATACATTCATTCAAAGAACTTCATCCACCGGGATGTGAAGCCAGAC
AACTTCCTCATGGGCCTGGGGAAGAAGGGCAACCTGGTGTACATCATCGACTTCGGGCTGGCCAAGAAGTACCGGGATGCACGCACCCAC
CAGCACATCCCCTATCGTGAGAACAAGAACCTCACGGGGACGGCGCGGTACGCCTCCATCAACACGCACCTTGGAATTGAACAATCCCGA
AGAGATGACTTGGAGTCTCTGGGCTACGTGCTAATGTACTTCAACCTGGGCTCTCTCCCCTGGCAGGGGCTGAAGGCTGCCACCAAGAGA
CAGAAATACGAAAGGATTAGCGAGAAGAAAATGTCCACCCCCATCGAAGTGTTGTGTAAAGGCTACCCTTCCGAATTTGCCACATACCTG
AATTTCTGCCGTTCCTTGCGTTTTGACGACAAGCCTGACTACTCGTACCTGCGGCAGCTTTTCCGGAATCTGTTCCATCGCCAGGGCTTC
TCCTATGACTACGTGTTCGACTGGAACATGCTCAAATTTGGTGCCAGCCGGGCCGCCGATGACGCCGAGCGGGAGCGCAGGGACCGAGAG
GAGCGGCTGAGACACTCGCGGAACCCGGCTACCCGCGGCCTCCCTTCCACAGCCTCCGGCCGCCTGCGGGGGACGCAGGAAGTGGCTCCC
CCCACACCCCTCACCCCTACCTCACACACGGCTAACACCTCCCCCCGGCCCGTCTCCGGCATGGAGAGAGAGCGGAAAGTGAGTATGCGG
CTGCACCGCGGGGCCCCCGTCAACATCTCCTCGTCCGACCTCACAGGCCGACAAGATACCTCTCGCATGTCCACCTCACAGAGGAGCAGG
GACATGGCATCTCTCCGGCTGCACGCGGCCCGCCAGGGCACCCGCTGCCGTCCCCAGCGCCCACGACGCACCTACTGAGGGCCCCGGCGG
CCTCTGACCGGGCTCCCAGCCACGCAGGCCACTGCTGGCCACGAGGGCAGGTGGGTGTTAGGTGTCCAGGACAAGCCCAAGCGCTGGGCC
GGGCTGGATGGAGGACAGGGTGCAAAGACCAGCCCTGGGCACTGACCACACCACGCACACTGCCAGCCAGGCAGAGGGGCGAAAAAGGGA
AGGCAGGAGGGTCCTGTTTCTTAAACACAGCAGTGAATAAAGTGGCTTGTTCCACCT

>89464_89464_4_TBCD-CSNK1D_TBCD_chr17_80710253_ENST00000539345_CSNK1D_chr17_80223672_ENST00000398519_length(amino acids)=463AA_BP=61
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRGTDIAAGEEVAIKLECVKTKHPQLHIESK
IYKMMQGGVGIPTIRWCGAEGDYNVMVMELLGPSLEDLFNFCSRKFSLKTVLLLADQMISRIEYIHSKNFIHRDVKPDNFLMGLGKKGNL
VYIIDFGLAKKYRDARTHQHIPYRENKNLTGTARYASINTHLGIEQSRRDDLESLGYVLMYFNLGSLPWQGLKAATKRQKYERISEKKMS
TPIEVLCKGYPSEFATYLNFCRSLRFDDKPDYSYLRQLFRNLFHRQGFSYDYVFDWNMLKFGASRAADDAERERRDREERLRHSRNPATR
GLPSTASGRLRGTQEVAPPTPLTPTSHTANTSPRPVSGMERERKVSMRLHRGAPVNISSSDLTGRQDTSRMSTSQRSRDMASLRLHAARQ
GTRCRPQRPRRTY

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

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Fusion Gene PPI Analysis for TBCD-CSNK1D


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


Top

Related Drugs for TBCD-CSNK1D


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 TBCD-CSNK1D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTBCDC4310671ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneTBCDC0025958Microcephaly2CTD_human
HgeneTBCDC0036572Seizures2CTD_human;GENOMICS_ENGLAND
HgeneTBCDC1956147Microlissencephaly2CTD_human
HgeneTBCDC3853041Severe Congenital Microcephaly2CTD_human
HgeneTBCDC0008073Developmental Disabilities1CTD_human
HgeneTBCDC0020796Profound Mental Retardation1CTD_human
HgeneTBCDC0022333Jacksonian Seizure1CTD_human
HgeneTBCDC0023944Locked-In Syndrome1CTD_human
HgeneTBCDC0025363Mental Retardation, Psychosocial1CTD_human
HgeneTBCDC0029124Optic Atrophy1CTD_human
HgeneTBCDC0034372Quadriplegia1CTD_human
HgeneTBCDC0035229Respiratory Insufficiency1CTD_human
HgeneTBCDC0037769West Syndrome1GENOMICS_ENGLAND
HgeneTBCDC0085996Child Development Deviations1CTD_human
HgeneTBCDC0085997Child Development Disorders, Specific1CTD_human
HgeneTBCDC0149958Complex partial seizures1CTD_human
HgeneTBCDC0151786Muscle Weakness1CTD_human
HgeneTBCDC0234533Generalized seizures1CTD_human
HgeneTBCDC0234535Clonic Seizures1CTD_human
HgeneTBCDC0235063Respiratory Depression1CTD_human
HgeneTBCDC0270715Degenerative Diseases, Central Nervous System1CTD_human
HgeneTBCDC0270790Quadriparesis1CTD_human
HgeneTBCDC0270824Visual seizure1CTD_human
HgeneTBCDC0270844Tonic Seizures1CTD_human
HgeneTBCDC0270846Epileptic drop attack1CTD_human
HgeneTBCDC0422850Seizures, Somatosensory1CTD_human
HgeneTBCDC0422852Seizures, Auditory1CTD_human
HgeneTBCDC0422853Olfactory seizure1CTD_human
HgeneTBCDC0422854Gustatory seizure1CTD_human
HgeneTBCDC0422855Vertiginous seizure1CTD_human
HgeneTBCDC0426970Spastic Quadriplegia1CTD_human
HgeneTBCDC0431380Cortical Dysplasia1CTD_human
HgeneTBCDC0494475Tonic - clonic seizures1CTD_human
HgeneTBCDC0524851Neurodegenerative Disorders1CTD_human
HgeneTBCDC0751056Non-epileptic convulsion1CTD_human
HgeneTBCDC0751110Single Seizure1CTD_human
HgeneTBCDC0751123Atonic Absence Seizures1CTD_human
HgeneTBCDC0751460Flaccid Quadriplegia1CTD_human
HgeneTBCDC0751461Paralysis, Spinal, Quadriplegic1CTD_human
HgeneTBCDC0751494Convulsive Seizures1CTD_human
HgeneTBCDC0751495Seizures, Focal1CTD_human
HgeneTBCDC0751496Seizures, Sensory1CTD_human
HgeneTBCDC0751733Degenerative Diseases, Spinal Cord1CTD_human
HgeneTBCDC0917816Mental deficiency1CTD_human
HgeneTBCDC1145670Respiratory Failure1CTD_human
HgeneTBCDC1955869Malformations of Cortical Development1CTD_human
HgeneTBCDC3495874Nonepileptic Seizures1CTD_human
HgeneTBCDC3714756Intellectual Disability1CTD_human
HgeneTBCDC4048158Convulsions1CTD_human
HgeneTBCDC4316903Absence Seizures1CTD_human
HgeneTBCDC4317109Epileptic Seizures1CTD_human
HgeneTBCDC4317123Myoclonic Seizures1CTD_human
HgeneTBCDC4505436Generalized Absence Seizures1CTD_human
TgeneC3808874ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 23GENOMICS_ENGLAND;UNIPROT
TgeneC1858496Advanced Sleep-Phase Syndrome, Familial1CTD_human;ORPHANET