FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 4014

FusionGeneSummary for BCL2L11_AFMID

check button Fusion gene summary
Fusion gene informationFusion gene name: BCL2L11_AFMID
Fusion gene ID: 4014
HgeneTgene
Gene symbol

BCL2L11

AFMID

Gene ID

10018

125061

Gene nameBCL2 like 11arylformamidase
SynonymsBAM|BIM|BODFKF|KF|KFA
Cytomap

2q13

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionbcl-2-like protein 11BCL2-like 11 (apoptosis facilitator)bcl-2 interacting mediator of cell deathbcl-2 interacting protein Bimbcl-2-related ovarian death agonistkynurenine formamidaseKFaseN-formylkynurenine formamidaseprobable arylformamidase
Modification date2018052720180523
UniProtAcc

O43521

Q63HM1

Ensembl transtripts involved in fusion geneENST00000337565, ENST00000393253, 
ENST00000357757, ENST00000308659, 
ENST00000393256, ENST00000405953, 
ENST00000409257, ENST00000589256, 
ENST00000588800, ENST00000591952, 
ENST00000327898, ENST00000586731, 
ENST00000589664, 
Fusion gene scores* DoF score4 X 2 X 4=324 X 3 X 3=36
# samples 44
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BCL2L11 [Title/Abstract] AND AFMID [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneBCL2L11

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

11546872

HgeneBCL2L11

GO:0032464

positive regulation of protein homooligomerization

21041309

HgeneBCL2L11

GO:0034976

response to endoplasmic reticulum stress

22761832

HgeneBCL2L11

GO:2000271

positive regulation of fibroblast apoptotic process

11997495


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-BH-A18Q-01ABCL2L11chr2

111881716

+AFMIDchr17

76187051

+
* 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
Frame-shitENST00000337565ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000337565ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000337565ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000337565ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000337565ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000337565ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
5CDS-intronENST00000337565ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-3CDSENST00000393253ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
intron-intronENST00000393253ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000357757ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000357757ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000357757ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000357757ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000357757ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000357757ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
5CDS-intronENST00000357757ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000308659ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000308659ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000308659ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000308659ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000308659ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000308659ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
5CDS-intronENST00000308659ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000393256ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000393256ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000393256ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000393256ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000393256ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000393256ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
5CDS-intronENST00000393256ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000405953ENST00000409257BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000405953ENST00000589256BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000405953ENST00000588800BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000405953ENST00000591952BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000405953ENST00000327898BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
Frame-shitENST00000405953ENST00000586731BCL2L11chr2

111881716

+AFMIDchr17

76187051

+
5CDS-intronENST00000405953ENST00000589664BCL2L11chr2

111881716

+AFMIDchr17

76187051

+

Top

FusionProtFeatures for BCL2L11_AFMID


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCL2L11

O43521

AFMID

Q63HM1

Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway oftryptophan degradation. Kynurenine may be further oxidized tonicotinic acid, NAD(H) and NADP(H). Required for elimination oftoxic metabolites. {ECO:0000255|HAMAP-Rule:MF_03014}.

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


Top

FusionGeneSequence for BCL2L11_AFMID


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).

Top

FusionGenePPI for BCL2L11_AFMID


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
BCL2L11BCL2L2, BCL2, BCL2L1, MCL1, DYNLL2, DYNLL1, VDAC1, BCL2A1, BTK, SMARCB1, GTF2I, TRIM2, UBQLN2, BTRC, HSPA4, CUL2, CISH, TCEB2, VHL, GNB2L1, CD302, FBXW11, APP, MAPK8, BAG3, YWHAB, AURKA, ATP6V1G1, FGL1, RIOK3, AURKB, FEM1C, NDRG1, MAGEA11, GIMAP5, EDNRA, ATP2A3, ANKLE2, MTHFR, RHPN2, BAX, KIF22, USP27X, MAPK1, MAPK3, SLC39A12, KLHL10, P4HA3, SLC18A1, MTA2, ADAM32, PCDHB11AFMIDELAVL1, STK17B, TOMM40L, UAP1L1, PCBD1


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

RelatedDrugs for BCL2L11_AFMID


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

Top

RelatedDiseases for BCL2L11_AFMID


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCL2L11C0008313Cholangitis, Sclerosing1CTD_human