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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: 7127

FusionGeneSummary for CHM_ABCB7

check button Fusion gene summary
Fusion gene informationFusion gene name: CHM_ABCB7
Fusion gene ID: 7127
HgeneTgene
Gene symbol

CHM

ABCB7

Gene ID

1121

22

Gene nameCHM, Rab escort protein 1ATP binding cassette subfamily B member 7
SynonymsDXS540|GGTA|HSD-32|REP-1|TCDABC7|ASAT|Atm1p|EST140535
Cytomap

Xq21.2

Xq13.3

Type of geneprotein-codingprotein-coding
Descriptionrab proteins geranylgeranyltransferase component A 1choroideremia (Rab escort protein 1)ATP-binding cassette sub-family B member 7, mitochondrialABC transporter 7 proteinATP-binding cassette transporter 7ATP-binding cassette, sub-family B (MDR/TAP), member 7
Modification date2018051920180525
UniProtAcc

P24386

O75027

Ensembl transtripts involved in fusion geneENST00000357749, ENST00000467744, 
ENST00000537751, ENST00000358786, 
ENST00000253577, ENST00000339447, 
ENST00000373394, ENST00000534570, 
Fusion gene scores* DoF score5 X 6 X 3=903 X 4 X 3=36
# samples 63
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHM [Title/Abstract] AND ABCB7 [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
HgeneCHM

GO:0018344

protein geranylgeranylation

7957092


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
TCGALDBRCATCGA-AR-A255-01ACHMchrX

85282495

-ABCB7chrX

74334666

-
* 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-shiftENST00000357749ENST00000253577CHMchrX

85282495

-ABCB7chrX

74334666

-
Frame-shiftENST00000357749ENST00000339447CHMchrX

85282495

-ABCB7chrX

74334666

-
Frame-shiftENST00000357749ENST00000373394CHMchrX

85282495

-ABCB7chrX

74334666

-
5CDS-intronENST00000357749ENST00000534570CHMchrX

85282495

-ABCB7chrX

74334666

-
5UTR-3CDSENST00000467744ENST00000253577CHMchrX

85282495

-ABCB7chrX

74334666

-
5UTR-3CDSENST00000467744ENST00000339447CHMchrX

85282495

-ABCB7chrX

74334666

-
5UTR-3CDSENST00000467744ENST00000373394CHMchrX

85282495

-ABCB7chrX

74334666

-
5UTR-intronENST00000467744ENST00000534570CHMchrX

85282495

-ABCB7chrX

74334666

-
intron-3CDSENST00000537751ENST00000253577CHMchrX

85282495

-ABCB7chrX

74334666

-
intron-3CDSENST00000537751ENST00000339447CHMchrX

85282495

-ABCB7chrX

74334666

-
intron-3CDSENST00000537751ENST00000373394CHMchrX

85282495

-ABCB7chrX

74334666

-
intron-intronENST00000537751ENST00000534570CHMchrX

85282495

-ABCB7chrX

74334666

-
Frame-shiftENST00000358786ENST00000253577CHMchrX

85282495

-ABCB7chrX

74334666

-
Frame-shiftENST00000358786ENST00000339447CHMchrX

85282495

-ABCB7chrX

74334666

-
Frame-shiftENST00000358786ENST00000373394CHMchrX

85282495

-ABCB7chrX

74334666

-
5CDS-intronENST00000358786ENST00000534570CHMchrX

85282495

-ABCB7chrX

74334666

-

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FusionProtFeatures for CHM_ABCB7


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

P24386

ABCB7

O75027

Substrate-binding subunit of the Rabgeranylgeranyltransferase (GGTase) complex. Binds unprenylated Rabproteins and presents the substrate peptide to the catalyticcomponent B composed of RABGGTA and RABGGTB, and remains bound toit after the geranylgeranyl transfer reaction. The component A isthought to be regenerated by transferring its prenylated Rab backto the donor membrane. Besides, a pre-formed complex consisting ofCHM and the Rab GGTase dimer (RGGT or component B) can bind to andprenylate Rab proteins; this alternative pathway is proposed to bethe predominant pathway for Rab protein geranylgeranylation.{ECO:0000269|PubMed:18532927, ECO:0000269|PubMed:7957092}. Could be involved in the transport of heme from themitochondria to the cytosol. Plays a central role in thematuration of cytosolic iron-sulfur (Fe/S) cluster-containingproteins.

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 CHM_ABCB7


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 CHM_ABCB7


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
CHMRAB7A, RAB1A, RAB3A, RAB5A, RAB6A, RAB1B, RAB17, RAB32, RAB11B, RAB31, RAB9B, KIF2A, VIL1, RAB6B, RAB7B, RAB8B, RAB9A, RAB30, RAB27B, RAB11A, RAB5C, CNTF, RABGGTA, RAB29, RBM3ABCB7FECH, ICT1, PCK1, APP, MRPL10, ATP6V1D, PDCD6, NDUFB6, UQCRC1, MTCH1, SDF4, UNK, NTRK1, ACAT1, CKB, CKM, FKBP8, MAT2A, RAB2A, YBX3, EPRS, RPN1, FOXS1, FAF2, COQ9, NDUFA4, UBC, TRIM25


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 CHM_ABCB7


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 CHM_ABCB7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHMC0008525Choroideremia3CTD_human;HPO;ORPHANET;UNIPROT
TgeneABCB7C1845028ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA5CTD_human;ORPHANET;UNIPROT
TgeneABCB7C0002896Sideroblastic anemia2CTD_human;HPO
TgeneABCB7C0004134Ataxia1CTD_human