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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: 16493

FusionGeneSummary for HMHA1_ABCA7

check button Fusion gene summary
Fusion gene informationFusion gene name: HMHA1_ABCA7
Fusion gene ID: 16493
HgeneTgene
Gene symbol

HMHA1

ABCA7

Gene ID

23526

10347

Gene nameRho GTPase activating protein 45ATP binding cassette subfamily A member 7
SynonymsHA-1|HLA-HA1|HMHA1ABCA-SSN|ABCX|AD9
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 45histocompatibility (minor) HA-1minor histocompatibility antigen HA-1minor histocompatibility protein HA-1ATP-binding cassette sub-family A member 7ATP-binding cassette, sub-family A (ABC1), member 7autoantigen SS-Nmacrophage ABC transporter
Modification date2018051920180523
UniProtAcc

Q8IZY2

Ensembl transtripts involved in fusion geneENST00000539243, ENST00000313093, 
ENST00000536472, ENST00000590214, 
ENST00000586866, ENST00000543365, 
ENST00000592335, ENST00000590577, 
ENST00000591169, 		ENST00000263094, 
ENST00000433129, ENST00000435683, 
ENST00000533574, 
Fusion gene scores* DoF score2 X 2 X 1=45 X 4 X 4=80
# samples 25
** MAII scorelog2(2/4*10)=2.32192809488736log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HMHA1 [Title/Abstract] AND ABCA7 [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
TgeneABCA7

GO:0033344

cholesterol efflux

14570867

TgeneABCA7

GO:0033700

phospholipid efflux

14570867

TgeneABCA7

GO:0034380

high-density lipoprotein particle assembly

14570867

TgeneABCA7

GO:0038027

apolipoprotein A-I-mediated signaling pathway

14570867

TgeneABCA7

GO:0045332

phospholipid translocation

24097981


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
TCGARVCESCTCGA-C5-A7CO-01AHMHA1chr19

1083352

+ABCA7chr19

1061781

+
* 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
In-frameENST00000539243ENST00000263094HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000539243ENST00000433129HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000539243ENST00000435683HMHA1chr19

1083352

+ABCA7chr19

1061781

+
5CDS-intronENST00000539243ENST00000533574HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000313093ENST00000263094HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000313093ENST00000433129HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000313093ENST00000435683HMHA1chr19

1083352

+ABCA7chr19

1061781

+
5CDS-intronENST00000313093ENST00000533574HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000536472ENST00000263094HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000536472ENST00000433129HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000536472ENST00000435683HMHA1chr19

1083352

+ABCA7chr19

1061781

+
5CDS-intronENST00000536472ENST00000533574HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000590214ENST00000263094HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000590214ENST00000433129HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000590214ENST00000435683HMHA1chr19

1083352

+ABCA7chr19

1061781

+
5CDS-intronENST00000590214ENST00000533574HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000586866ENST00000263094HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000586866ENST00000433129HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000586866ENST00000435683HMHA1chr19

1083352

+ABCA7chr19

1061781

+
5CDS-intronENST00000586866ENST00000533574HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000543365ENST00000263094HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000543365ENST00000433129HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000543365ENST00000435683HMHA1chr19

1083352

+ABCA7chr19

1061781

+
5CDS-intronENST00000543365ENST00000533574HMHA1chr19

1083352

+ABCA7chr19

1061781

+
intron-3CDSENST00000592335ENST00000263094HMHA1chr19

1083352

+ABCA7chr19

1061781

+
intron-3CDSENST00000592335ENST00000433129HMHA1chr19

1083352

+ABCA7chr19

1061781

+
intron-3CDSENST00000592335ENST00000435683HMHA1chr19

1083352

+ABCA7chr19

1061781

+
intron-intronENST00000592335ENST00000533574HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000590577ENST00000263094HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000590577ENST00000433129HMHA1chr19

1083352

+ABCA7chr19

1061781

+
In-frameENST00000590577ENST00000435683HMHA1chr19

1083352

+ABCA7chr19

1061781

+
5CDS-intronENST00000590577ENST00000533574HMHA1chr19

1083352

+ABCA7chr19

1061781

+
3UTR-3CDSENST00000591169ENST00000263094HMHA1chr19

1083352

+ABCA7chr19

1061781

+
3UTR-3CDSENST00000591169ENST00000433129HMHA1chr19

1083352

+ABCA7chr19

1061781

+
3UTR-3CDSENST00000591169ENST00000435683HMHA1chr19

1083352

+ABCA7chr19

1061781

+
3UTR-intronENST00000591169ENST00000533574HMHA1chr19

1083352

+ABCA7chr19

1061781

+

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FusionProtFeatures for HMHA1_ABCA7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HMHA1

ABCA7

Q8IZY2

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Plays a role in phagocytosis by macrophages of apoptoticcells. Binds APOA1 and may function in apolipoprotein-mediatedphospholipid efflux from cells. May also mediate cholesterolefflux. May regulate cellular ceramide homeostasis duringkeratinocytes differentiation. {ECO:0000269|PubMed:12917409,ECO:0000269|PubMed:12925201, ECO:0000269|PubMed:14570867,ECO:0000269|PubMed:14592415}.

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
HgeneHMHA1chr19:1083352chr19:1061781ENST00000313093+2123376_4129851137Coiled coilOntology_term=ECO:0000255
HgeneHMHA1chr19:1083352chr19:1061781ENST00000313093+2123440_4999851137Coiled coilOntology_term=ECO:0000255
HgeneHMHA1chr19:1083352chr19:1061781ENST00000539243+2123376_41210011153Coiled coilOntology_term=ECO:0000255
HgeneHMHA1chr19:1083352chr19:1061781ENST00000539243+2123440_49910011153Coiled coilOntology_term=ECO:0000255
HgeneHMHA1chr19:1083352chr19:1061781ENST00000313093+2123269_5399851137DomainF-BAR
HgeneHMHA1chr19:1083352chr19:1061781ENST00000313093+2123761_9749851137DomainRho-GAP
HgeneHMHA1chr19:1083352chr19:1061781ENST00000539243+2123269_53910011153DomainF-BAR
HgeneHMHA1chr19:1083352chr19:1061781ENST00000539243+2123761_97410011153DomainRho-GAP
HgeneHMHA1chr19:1083352chr19:1061781ENST00000313093+2123702_7479851137Zinc fingerPhorbol-ester/DAG-type
HgeneHMHA1chr19:1083352chr19:1061781ENST00000539243+2123702_74710011153Zinc fingerPhorbol-ester/DAG-type
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+33411793_202516832009DomainABC transporter 2
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+39471827_183418212147Nucleotide bindingATP 2
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+38461827_183418212147Nucleotide bindingATP 2
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+33411827_183416832009Nucleotide bindingATP 2
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+33411683_170316832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+33411729_174916832009TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+39471793_202518212147DomainABC transporter 2
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+3947807_103818212147DomainABC transporter 1
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+38461793_202518212147DomainABC transporter 2
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+3846807_103818212147DomainABC transporter 1
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+3341807_103816832009DomainABC transporter 1
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+3947841_84818212147Nucleotide bindingATP 1
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+3846841_84818212147Nucleotide bindingATP 1
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+3341841_84816832009Nucleotide bindingATP 1
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+39471264_153718212147Topological domainExtracellular
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+394743_54918212147Topological domainExtracellular
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+38461264_153718212147Topological domainExtracellular
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+384643_54918212147Topological domainExtracellular
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+33411264_153716832009Topological domainExtracellular
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+334143_54916832009Topological domainExtracellular
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+39471243_126318212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+39471538_155818212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+39471584_160418212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+39471621_164118212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+39471649_166918212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+39471683_170318212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+39471729_174918212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+394722_4218212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+3947550_57018212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+3947593_61318212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+3947626_64618212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+3947655_67518212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+3947687_70718212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+3947727_74718212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000263094+3947849_86918212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+38461243_126318212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+38461538_155818212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+38461584_160418212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+38461621_164118212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+38461649_166918212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+38461683_170318212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+38461729_174918212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+384622_4218212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+3846550_57018212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+3846593_61318212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+3846626_64618212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+3846655_67518212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+3846687_70718212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+3846727_74718212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000433129+3846849_86918212147TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+33411243_126316832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+33411538_155816832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+33411584_160416832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+33411621_164116832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+33411649_166916832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+334122_4216832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+3341550_57016832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+3341593_61316832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+3341626_64616832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+3341655_67516832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+3341687_70716832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+3341727_74716832009TransmembraneHelical
TgeneABCA7chr19:1083352chr19:1061781ENST00000435683+3341849_86916832009TransmembraneHelical


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FusionGeneSequence for HMHA1_ABCA7


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 HMHA1_ABCA7


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
HMHA1YWHAE, MDM2ABCA7HNRNPD, LLGL2, SORT1, SYNCRIP, SGTB, HTR3A, GABRA3


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 HMHA1_ABCA7


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 HMHA1_ABCA7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneABCA7C0002395Alzheimer's Disease2CTD_human