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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 12706

FusionGeneSummary for FAM19A4_COL8A1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM19A4_COL8A1
Fusion gene ID: 12706
HgeneTgene
Gene symbol

FAM19A4

COL8A1

Gene ID

151647

1295

Gene namefamily with sequence similarity 19 member A4, C-C motif chemokine likecollagen type VIII alpha 1 chain
SynonymsTAFA-4|TAFA4C3orf7
Cytomap

3p14.1

3q12.1

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM19A4chemokine-like protein TAFA-4family with sequence similarity 19 (chemokine (C-C motif)-like), member A4collagen alpha-1(VIII) chaincell proliferation-inducing protein 41collagen VIII, alpha-1 polypeptidecollagen, type VIII, alpha 1endothelial collagensmag-64smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64
Modification date2018051920180527
UniProtAcc

Q96LR4

P27658

Ensembl transtripts involved in fusion geneENST00000295569, ENST00000261037, 
ENST00000273342, ENST00000463753, 
Fusion gene scores* DoF score5 X 2 X 4=404 X 2 X 4=32
# samples 54
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FAM19A4 [Title/Abstract] AND COL8A1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDMESOTCGA-3U-A98F-01AFAM19A4chr3

68981391

-COL8A1chr3

99463741

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5UTR-5UTRENST00000295569ENST00000261037FAM19A4chr3

68981391

-COL8A1chr3

99463741

+
5UTR-5UTRENST00000295569ENST00000273342FAM19A4chr3

68981391

-COL8A1chr3

99463741

+
5UTR-intronENST00000295569ENST00000463753FAM19A4chr3

68981391

-COL8A1chr3

99463741

+

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FusionProtFeatures for FAM19A4_COL8A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM19A4

Q96LR4

COL8A1

P27658

Macromolecular component of the subendothelium. Majorcomponent of the Descemet's membrane (basement membrane) ofcorneal endothelial cells. Also component of the endothelia ofblood vessels. Necessary for migration and proliferation ofvascular smooth muscle cells and thus, has a potential role in themaintenance of vessel wall integrity and structure, in particularin atherogenesis. {ECO:0000269|PubMed:11708810}. Vastatin, the C-terminal fragment comprising the NC1domain, inhibits aortic endothelial cell proliferation and causescell apoptosis. {ECO:0000269|PubMed:11708810}.

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


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FusionGeneSequence for FAM19A4_COL8A1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for FAM19A4_COL8A1


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
FAM19A4APP, APPBP2, NRXN3, SEZ6L2, AVL9, VCAN, LRRC4B, PLXNA2, SUSD5, MRC2, TM7SF3, LIFR, LEPR, ITGA5, CNTNAP1, ITPR2, PTS, TGFBR3, GPLD1, INSR, COL6A2, MIOS, ITPR3, MIA3, PLXNA1, NRP1, M6PR, B4GALT6, ITPR1, FAM175B, SSFA2, PTPRU, TMEM67, ZYG11B, ITGA4, DSC2, FREM2, HS6ST1, SORL1, ITGB1, CLN5, POMGNT2, CTAGE5, ZER1, LRP11, MOXD1, TCTN2, FN1, PRCP, TCTN1, MGRN1, LRP2COL8A1KLHL12, KRTAP4-12, EFEMP2, COL8A2, UBQLN4, ADAMTSL4, REL, SP4, CREB5, VAC14, KRTAP9-2, KRT40, KRTAP10-7, KRTAP10-8, KRTAP10-3, INCA1, NOTCH2NL, KRTAP26-1, MCM2


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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RelatedDrugs for FAM19A4_COL8A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for FAM19A4_COL8A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFAM19A4C1458155Mammary Neoplasms1CTD_human
TgeneCOL8A1C0000768Congenital Abnormality1CTD_human