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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: 12705

FusionGeneSummary for FAM19A4_CACNA2D3

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM19A4_CACNA2D3
Fusion gene ID: 12705
HgeneTgene
Gene symbol

FAM19A4

CACNA2D3

Gene ID

151647

55799

Gene namefamily with sequence similarity 19 member A4, C-C motif chemokine likecalcium voltage-gated channel auxiliary subunit alpha2delta 3
SynonymsTAFA-4|TAFA4HSA272268
Cytomap

3p14.1

3p21.1-p14.3

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM19A4chemokine-like protein TAFA-4family with sequence similarity 19 (chemokine (C-C motif)-like), member A4voltage-dependent calcium channel subunit alpha-2/delta-3calcium channel alpha2-delta3 subunitcalcium channel, voltage-dependent, alpha 2/delta 3 subunitcalcium channel, voltage-dependent, alpha 2/delta subunit 3voltage-gated calcium channel subunit a
Modification date2018051920180522
UniProtAcc

Q96LR4

Q8IZS8

Ensembl transtripts involved in fusion geneENST00000295569, ENST00000415676, 
ENST00000288197, ENST00000474759, 
ENST00000490478, ENST00000478261, 
Fusion gene scores* DoF score5 X 2 X 4=4011 X 9 X 7=693
# samples 511
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(11/693*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM19A4 [Title/Abstract] AND CACNA2D3 [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
TCGARVBRCATCGA-A2-A0CX-01AFAM19A4chr3

68981391

-CACNA2D3chr3

54786626

+
* 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-3CDSENST00000295569ENST00000415676FAM19A4chr3

68981391

-CACNA2D3chr3

54786626

+
5UTR-3CDSENST00000295569ENST00000288197FAM19A4chr3

68981391

-CACNA2D3chr3

54786626

+
5UTR-3CDSENST00000295569ENST00000474759FAM19A4chr3

68981391

-CACNA2D3chr3

54786626

+
5UTR-3CDSENST00000295569ENST00000490478FAM19A4chr3

68981391

-CACNA2D3chr3

54786626

+
5UTR-intronENST00000295569ENST00000478261FAM19A4chr3

68981391

-CACNA2D3chr3

54786626

+

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FusionProtFeatures for FAM19A4_CACNA2D3


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

Q96LR4

CACNA2D3

Q8IZS8

The alpha-2/delta subunit of voltage-dependent calciumchannels regulates calcium current density andactivation/inactivation kinetics of the calcium channel. Acts as aregulatory subunit for P/Q-type calcium channel (CACNA1A), N-type(CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G)(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

- 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_CACNA2D3


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_CACNA2D3


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, LRP2CACNA2D3


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_CACNA2D3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCACNA2D3Q8IZS8DB00381AmlodipineVoltage-dependent calcium channel subunit alpha-2/delta-3small moleculeapproved
TgeneCACNA2D3Q8IZS8DB06712NilvadipineVoltage-dependent calcium channel subunit alpha-2/delta-3small moleculeapproved|investigational

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RelatedDiseases for FAM19A4_CACNA2D3


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