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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: 18680

FusionGeneSummary for KIAA1244_HMHA1

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1244_HMHA1
Fusion gene ID: 18680
HgeneTgene
Gene symbol

KIAA1244

HMHA1

Gene ID

57221

23526

Gene nameARFGEF family member 3Rho GTPase activating protein 45
SynonymsA7322|BIG3|C6orf92|KIAA1244|PPP1R33|dJ171N11.1HA-1|HLA-HA1|HMHA1
Cytomap

6q23.3-q24.1

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionbrefeldin A-inhibited guanine nucleotide-exchange protein 3protein phosphatase 1, regulatory subunit 33rho GTPase-activating protein 45histocompatibility (minor) HA-1minor histocompatibility antigen HA-1minor histocompatibility protein HA-1
Modification date2018051920180519
UniProtAcc

Ensembl transtripts involved in fusion geneENST00000251691, ENST00000539243, 
ENST00000313093, ENST00000536472, 
ENST00000590214, ENST00000586866, 
ENST00000543365, ENST00000592335, 
ENST00000590577, ENST00000591169, 
Fusion gene scores* DoF score4 X 3 X 2=244 X 4 X 4=64
# samples 34
** MAII scorelog2(3/24*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA1244 [Title/Abstract] AND HMHA1 [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
HgeneKIAA1244

GO:0010923

negative regulation of phosphatase activity

19389623


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
TCGARVPRADTCGA-V1-A9ZR-01AKIAA1244chr6

138618092

+HMHA1chr19

1073148

+
* 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-shiftENST00000251691ENST00000539243KIAA1244chr6

138618092

+HMHA1chr19

1073148

+
Frame-shiftENST00000251691ENST00000313093KIAA1244chr6

138618092

+HMHA1chr19

1073148

+
5CDS-5UTRENST00000251691ENST00000536472KIAA1244chr6

138618092

+HMHA1chr19

1073148

+
5CDS-5UTRENST00000251691ENST00000590214KIAA1244chr6

138618092

+HMHA1chr19

1073148

+
5CDS-5UTRENST00000251691ENST00000586866KIAA1244chr6

138618092

+HMHA1chr19

1073148

+
5CDS-5UTRENST00000251691ENST00000543365KIAA1244chr6

138618092

+HMHA1chr19

1073148

+
5CDS-5UTRENST00000251691ENST00000592335KIAA1244chr6

138618092

+HMHA1chr19

1073148

+
5CDS-intronENST00000251691ENST00000590577KIAA1244chr6

138618092

+HMHA1chr19

1073148

+
5CDS-intronENST00000251691ENST00000591169KIAA1244chr6

138618092

+HMHA1chr19

1073148

+

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FusionProtFeatures for KIAA1244_HMHA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA1244

HMHA1

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}. 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}.

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 KIAA1244_HMHA1


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 KIAA1244_HMHA1


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
KIAA1244PTH, PHB2, EGFR, RNF2, BMI1, SPACA1, PNKD, SRPK2, CEP152, FGFR1OP, NIN, ST6GAL1, NPY2R, TMEM206, SIGLECL1, VIPR1, LPAR4, CLEC2DHMHA1YWHAE, MDM2


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 KIAA1244_HMHA1


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 KIAA1244_HMHA1


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