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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: 22138

FusionGeneSummary for MLH1_GOLGA4

check button Fusion gene summary
Fusion gene informationFusion gene name: MLH1_GOLGA4
Fusion gene ID: 22138
HgeneTgene
Gene symbol

MLH1

GOLGA4

Gene ID

4292

2803

Gene namemutL homolog 1golgin A4
SynonymsCOCA2|FCC2|HNPCC|HNPCC2|hMLH1CRPF46|GCP2|GOLG|MU-RMS-40.18|p230
Cytomap

3p22.2

3p22.2

Type of geneprotein-codingprotein-coding
DescriptionDNA mismatch repair protein Mlh1mutL homolog 1, colon cancer, nonpolyposis type 2golgin subfamily A member 4256 kDa golgin72.1 proteincentrosome-related protein F46golgi autoantigen, golgin subfamily a, 4golgin-240golgin-245protein 72.1trans-Golgi p230
Modification date2018052320180519
UniProtAcc

P40692

Q13439

Ensembl transtripts involved in fusion geneENST00000536378, ENST00000231790, 
ENST00000458205, ENST00000539477, 
ENST00000455445, ENST00000435176, 
ENST00000492474, 
ENST00000361924, 
ENST00000435830, ENST00000444882, 
ENST00000356847, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 5 X 3=75
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MLH1 [Title/Abstract] AND GOLGA4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor 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.
DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
TgeneGOLGA4

GO:0043001

Golgi to plasma membrane protein transport

15265687

TgeneGOLGA4

GO:0045773

positive regulation of axon extension

22705394


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-EW-A1IZ-01AMLH1chr3

37050396

+GOLGA4chr3

37376544

+
* 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-3CDSENST00000536378ENST00000361924MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5UTR-intronENST00000536378ENST00000435830MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5UTR-intronENST00000536378ENST00000444882MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5UTR-intronENST00000536378ENST00000356847MLH1chr3

37050396

+GOLGA4chr3

37376544

+
Frame-shitENST00000231790ENST00000361924MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5CDS-intronENST00000231790ENST00000435830MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5CDS-intronENST00000231790ENST00000444882MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5CDS-intronENST00000231790ENST00000356847MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5UTR-3CDSENST00000458205ENST00000361924MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5UTR-intronENST00000458205ENST00000435830MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5UTR-intronENST00000458205ENST00000444882MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5UTR-intronENST00000458205ENST00000356847MLH1chr3

37050396

+GOLGA4chr3

37376544

+
intron-3CDSENST00000539477ENST00000361924MLH1chr3

37050396

+GOLGA4chr3

37376544

+
intron-intronENST00000539477ENST00000435830MLH1chr3

37050396

+GOLGA4chr3

37376544

+
intron-intronENST00000539477ENST00000444882MLH1chr3

37050396

+GOLGA4chr3

37376544

+
intron-intronENST00000539477ENST00000356847MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5UTR-3CDSENST00000455445ENST00000361924MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5UTR-intronENST00000455445ENST00000435830MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5UTR-intronENST00000455445ENST00000444882MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5UTR-intronENST00000455445ENST00000356847MLH1chr3

37050396

+GOLGA4chr3

37376544

+
Frame-shitENST00000435176ENST00000361924MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5CDS-intronENST00000435176ENST00000435830MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5CDS-intronENST00000435176ENST00000444882MLH1chr3

37050396

+GOLGA4chr3

37376544

+
5CDS-intronENST00000435176ENST00000356847MLH1chr3

37050396

+GOLGA4chr3

37376544

+
3UTR-3CDSENST00000492474ENST00000361924MLH1chr3

37050396

+GOLGA4chr3

37376544

+
3UTR-intronENST00000492474ENST00000435830MLH1chr3

37050396

+GOLGA4chr3

37376544

+
3UTR-intronENST00000492474ENST00000444882MLH1chr3

37050396

+GOLGA4chr3

37376544

+
3UTR-intronENST00000492474ENST00000356847MLH1chr3

37050396

+GOLGA4chr3

37376544

+

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FusionProtFeatures for MLH1_GOLGA4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MLH1

P40692

GOLGA4

Q13439

Heterodimerizes with PMS2 to form MutL alpha, acomponent of the post-replicative DNA mismatch repair system(MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutSbeta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha isrecruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA issufficient to activate endonuclease activity of PMS2. Itintroduces single-strand breaks near the mismatch and thusgenerates new entry points for the exonuclease EXO1 to degrade thestrand containing the mismatch. DNA methylation would preventcleavage and therefore assure that only the newly mutated DNAstrand is going to be corrected. MutL alpha (MLH1-PMS2) interactsphysically with the clamp loader subunits of DNA polymerase III,suggesting that it may play a role to recruit the DNA polymeraseIII to the site of the MMR. Also implicated in DNA damagesignaling, a process which induces cell cycle arrest and can leadto apoptosis in case of major DNA damages. Heterodimerizes withMLH3 to form MutL gamma which plays a role in meiosis.{ECO:0000269|PubMed:16873062, ECO:0000269|PubMed:18206974,ECO:0000269|PubMed:20020535, ECO:0000269|PubMed:21120944,ECO:0000269|PubMed:9311737}. Involved in vesicular trafficking at the Golgi apparatuslevel. May play a role in delivery of transport vesiclescontaining GPI-linked proteins from the trans-Golgi networkthrough its interaction with MACF1. Involved in endosome-to-Golgitrafficking (PubMed:29084197). {ECO:0000269|PubMed:15265687,ECO:0000269|PubMed:29084197}.

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 MLH1_GOLGA4


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 MLH1_GOLGA4


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
MLH1AP2B1, TRIM29, ZC3H11A, FRMD6, UBOX5, BLM, ATM, BRCA1, MRE11A, MSH2, MSH6, NBN, RAD50, RFC1, MYC, PMS2, MLH3, PMS1, MSH4, EXO1, MBD4, BRIP1, MSH3, SMC1A, XRN1, PSD3, UBC, UBAP2L, YLPM1, PRKDC, KPNA2, KPNB1, RUVBL1, RUVBL2, FAN1, PPP2R1A, PPP2R2A, PPP2R2B, PPP3CB, PPP3CC, PPP2R2D, AIFM1, PIK3C2A, AMOT, ATAD3A, DOCK7, PYGB, ATP5A1, ATAD3B, WDR61, BARD1, BACH1, FANCD2, POLH, SPRTN, DDX47, TRIM23, PARP12, RAD23B, RAPGEFL1, ANXA6, ARAF, CAPN5, CTSB, GABARAP, MAP2K6, NDRG1, PTPRH, STAP2, TXN2, ZER1, FLNB, ACTG1, ACTG2, ANXA2, CKAP4, DES, MYL6, PARVA, SPTAN1, TMSB4X, FBXO32, SQSTM1, EIF2A, EEF1G, EEF2, NT5C3B, APRT, LGALS4, MUC2, IGKC, FCGBP, ABHD16A, ABCC3, AGR2, ALDOA, ASS1, ELP6, CAB39L, CKB, EXOC3, GSTP1, ACER3, PTGDS, SEC61A1, SELENBP1, SERPINF1, VAMP8, PCNA, MMS19, TXN, ATF2, ORC4, MYOG, PSMA1, CXorf57, SPERT, API5, SPTBN2, USP5, ZNF224, NTRK1, CAPZA2, LYST, CTTN, HDLBP, SLC25A1, PSMD6, FKBP8, INO80, PLXNA3, ELMO2, NANP, CASP3, SNW1, AES, CCDC33, CDCA7L, CEP76, KIAA1377, LY96, MAGEA8, ZBED1, HDAC6, MCM9, MCM8GOLGA4ARL1, ARL3, TRAF3IP1, EXOC1, TNIK, APP, TP63, NOL11, ZER1, SMYD2, LIMD1, CIRH1A, UBR7, HNRNPD, VHL, GEMIN5, TMEM63B, VWA9, PPM1H, PTPRN2, CCDC53, RALBP1, BMP1, NECAB2, TKT, ATP5G3, SERPINB5


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 MLH1_GOLGA4


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 MLH1_GOLGA4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMLH1C1333991Hereditary Non-Polyposis Colon Cancer Type 252CTD_human;UNIPROT
HgeneMLH1C1527249Colorectal Cancer6UNIPROT
HgeneMLH1C0009405Hereditary Nonpolyposis Colorectal Neoplasms5CTD_human
HgeneMLH1C0009404Colorectal Neoplasms3CTD_human
HgeneMLH1C0265325Turcot syndrome (disorder)2CTD_human;ORPHANET;UNIPROT
HgeneMLH1C0009375Colonic Neoplasms1CTD_human
HgeneMLH1C0024299Lymphoma1CTD_human;HPO
HgeneMLH1C0027627Neoplasm Metastasis1CTD_human
HgeneMLH1C0033578Prostatic Neoplasms1CTD_human
HgeneMLH1C0919267ovarian neoplasm1CTD_human
TgeneGOLGA4C0033578Prostatic Neoplasms1CTD_human
TgeneGOLGA4C0037274Dermatologic disorders1CTD_human
TgeneGOLGA4C0311375Arsenic Poisoning1CTD_human