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Fusion gene ID: 34852 |
FusionGeneSummary for SMC1A_SEC31A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMC1A_SEC31A | Fusion gene ID: 34852 | Hgene | Tgene | Gene symbol | SMC1A | SEC31A | Gene ID | 8243 | 22872 |
| Gene name | structural maintenance of chromosomes 1A | SEC31 homolog A, COPII coat complex component | |
| Synonyms | CDLS2|DXS423E|SB1.8|SMC1|SMC1L1|SMC1alpha|SMCB | ABP125|ABP130|HSPC275|HSPC334|SEC31L1 | |
| Cytomap | Xp11.22 | 4q21.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | structural maintenance of chromosomes protein 1ASMC protein 1ASMC-1-alphaSMC1 (structural maintenance of chromosomes 1, yeast)-like 1segregation of mitotic chromosomes 1 | protein transport protein Sec31ASEC31 homolog A, COPII coating complex componentSEC31-like protein 1SEC31-related protein Aweb1-like proteinyeast Sec31p homolog | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q14683 | O94979 | |
| Ensembl transtripts involved in fusion gene | ENST00000322213, ENST00000469129, ENST00000375340, | ENST00000348405, ENST00000513858, ENST00000395310, ENST00000443462, ENST00000509142, ENST00000326950, ENST00000432794, ENST00000311785, ENST00000448323, ENST00000505472, ENST00000500777, ENST00000508502, ENST00000355196, ENST00000264405, ENST00000505984, ENST00000508479, ENST00000436790, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 8 X 8 X 4=256 |
| # samples | 6 | 9 | |
| ** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/256*10)=-1.50814690367033 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMC1A [Title/Abstract] AND SEC31A [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | SMC1A | GO:0072423 | response to DNA damage checkpoint signaling | 11877377 |
| Tgene | SEC31A | GO:0051592 | response to calcium ion | 17196169 |
| Tgene | SEC31A | GO:0090110 | cargo loading into COPII-coated vesicle | 17499046|18843296 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | DT220653 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - | ||
| ChiTaRS3.1 | DT219678 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000322213 | ENST00000348405 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000513858 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000395310 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000443462 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000509142 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000326950 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000432794 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000311785 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000448323 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000505472 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000500777 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000508502 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000355196 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000264405 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000322213 | ENST00000505984 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| 5CDS-intron | ENST00000322213 | ENST00000508479 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| 5CDS-intron | ENST00000322213 | ENST00000436790 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000348405 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000513858 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000395310 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000443462 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000509142 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000326950 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000432794 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000311785 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000448323 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000505472 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000500777 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000508502 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000355196 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000264405 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-3CDS | ENST00000469129 | ENST00000505984 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-intron | ENST00000469129 | ENST00000508479 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| intron-intron | ENST00000469129 | ENST00000436790 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000348405 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000513858 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000395310 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000443462 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000509142 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000326950 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000432794 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000311785 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000448323 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000505472 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000500777 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000508502 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000355196 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000264405 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| Frame-shift | ENST00000375340 | ENST00000505984 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| 5CDS-intron | ENST00000375340 | ENST00000508479 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
| 5CDS-intron | ENST00000375340 | ENST00000436790 | SMC1A | chrX | 53449439 | - | SEC31A | chr4 | 83750212 | - |
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FusionProtFeatures for SMC1A_SEC31A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMC1A | SEC31A |
| Involved in chromosome cohesion during cell cycle and inDNA repair. Central component of cohesin complex. The cohesincomplex is required for the cohesion of sister chromatids afterDNA replication. The cohesin complex apparently forms a largeproteinaceous ring within which sister chromatids can be trapped.At anaphase, the complex is cleaved and dissociates fromchromatin, allowing sister chromatids to segregate. The cohesincomplex may also play a role in spindle pole assembly duringmitosis. Involved in DNA repair via its interaction with BRCA1 andits related phosphorylation by ATM, or via its phosphorylation byATR. Works as a downstream effector both in the ATM/NBS1 branchand in the ATR/MSH2 branch of S-phase checkpoint.{ECO:0000269|PubMed:11877377}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SMC1A_SEC31A |
| 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 SMC1A_SEC31A |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| SMC1A | STYXL1, CASP4, CDK4, ATM, SMC3, MSH6, CHTF18, SYCP3, SMARCA5, RAD21, NUMA1, STAG1, STAG3, RAE1, SMC1A, USP13, USP32, MLH1, ATRX, AIRE, ATG2A, ATG4C, BECN1, CAMKK2, PRKAA2, MGMT, SRRM1, RPGR, ATR, PHF1, CTCF, PAXIP1, THRA, THRB, KDM1B, EHMT2, SSU72, STAG2, PDS5A, PDS5B, WFDC5, BRCA1, HDAC5, WAPAL, BARD1, SMARCAD1, POLR2A, NIPBL, CDK8, CEBPA, MDC1, CUL3, CDK2, NSMCE2, FBXO6, MCM7, SF3B3, SMC2, RBM14, ACIN1, NOTCH1, METTL21B, MCM6, RFC1, POLA1, HDAC8, HDAC11, CDK20, ANKRD28, ARMCX3, KIF13A, RPA3, RPA2, RPA1, STAU1, CUL7, OBSL1, CCDC8, EED, RNF2, EGFR, SIRT6, ABCE1, ESR1, CDCA5, SDF4, PSMC2, NDC80, PLK1, POLE, SF3A2, SMC4, NTRK1, SCARNA22, HIST1H3E, BPTF, GANC, PEX1, HLTF, YWHAZ, SNX3, MRPL50, AKR7A2, SAP30, KCTD2, OSBPL3, PRPF19, KIAA1191, MTUS1, HAUS3, GCC1, NUF2, MGME1, LSM14B, DDI1, IRF3, TEAD2, FOXB1, FOXG1, FOXJ2, EP300, BRD4, FOXL1, FOXQ1, NF2, USP37, SNW1, CDC5L, RNF126, DERL1, USP15, SPAG9, MCM2, MCM4, EPS15L1, IVNS1ABP, GTF3C4, HSF1, NCL, MTF1 | SEC31A | SEC13, APC, TNNT1, PFDN1, ALG2, STAM, STAM2, CUL3, CDK9, HSPA8, VCAM1, ITGA4, REL, SHMT2, MOV10, NXF1, TFG, SCYL1, C6orf211, ATP6V1C1, ENO2, FDPS, NUDT13, SEC23A, SEC23B, SEC24B, ALDH5A1, ATP6V1D, CBS, CTH, CYB5B, DHX15, HNRNPA1, HSD17B10, NAPRT, NSF, SAR1A, TBCA, TPD52L2, TRIM25, TSTA3, TCEB2, NTRK1, TMEM17, XPO1, TSC22D2, NOP14, SEC23IP, NOC4L, GNPDA1, CCDC88A, BRCA1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SMC1A_SEC31A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SMC1A_SEC31A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SMC1A | C1802395 | Congenital muscular hypertrophy-cerebral syndrome | 5 | UNIPROT |
| Hgene | SMC1A | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | SMC1A | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | SMC1A | C0023470 | Myeloid Leukemia | 1 | CTD_human |
| Tgene | SEC31A | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
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