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Fusion gene ID: 349 |
FusionGeneSummary for ACAP2_IQCG |
Fusion gene summary |
Fusion gene information | Fusion gene name: ACAP2_IQCG | Fusion gene ID: 349 | Hgene | Tgene | Gene symbol | ACAP2 | IQCG | Gene ID | 23527 | 84223 |
Gene name | ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 | IQ motif containing G | |
Synonyms | CENTB2|CNT-B2 | CFAP122|DRC9 | |
Cytomap | 3q29 | 3q29 | |
Type of gene | protein-coding | protein-coding | |
Description | arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2Arf GAP with coiled coil, ANK repeat and PH domains 2centaurin-beta-2 | dynein regulatory complex protein 9IQ domain-containing protein Gdynein regulatory complex subunit 9 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q15057 | Q9H095 | |
Ensembl transtripts involved in fusion gene | ENST00000326793, ENST00000472860, | ENST00000265239, ENST00000455191, ENST00000453254, ENST00000480302, | |
Fusion gene scores | * DoF score | 9 X 7 X 10=630 | 8 X 8 X 3=192 |
# samples | 13 | 9 | |
** MAII score | log2(13/630*10)=-2.27684020535882 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/192*10)=-1.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ACAP2 [Title/Abstract] AND IQCG [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 |
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 |
TCGA | RV | HNSC | TCGA-CV-5970-01A | ACAP2 | chr3 | 195163524 | - | IQCG | chr3 | 197640913 | - |
* 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 |
In-frame | ENST00000326793 | ENST00000265239 | ACAP2 | chr3 | 195163524 | - | IQCG | chr3 | 197640913 | - |
In-frame | ENST00000326793 | ENST00000455191 | ACAP2 | chr3 | 195163524 | - | IQCG | chr3 | 197640913 | - |
Frame-shift | ENST00000326793 | ENST00000453254 | ACAP2 | chr3 | 195163524 | - | IQCG | chr3 | 197640913 | - |
5CDS-intron | ENST00000326793 | ENST00000480302 | ACAP2 | chr3 | 195163524 | - | IQCG | chr3 | 197640913 | - |
intron-3CDS | ENST00000472860 | ENST00000265239 | ACAP2 | chr3 | 195163524 | - | IQCG | chr3 | 197640913 | - |
intron-3CDS | ENST00000472860 | ENST00000455191 | ACAP2 | chr3 | 195163524 | - | IQCG | chr3 | 197640913 | - |
intron-3CDS | ENST00000472860 | ENST00000453254 | ACAP2 | chr3 | 195163524 | - | IQCG | chr3 | 197640913 | - |
intron-intron | ENST00000472860 | ENST00000480302 | ACAP2 | chr3 | 195163524 | - | IQCG | chr3 | 197640913 | - |
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FusionProtFeatures for ACAP2_IQCG |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ACAP2 | IQCG |
GTPase-activating protein (GAP) for ADP ribosylationfactor 6 (ARF6). {ECO:0000269|PubMed:11062263}. | Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility whichmaintains the alignment and integrity of the distal axoneme andregulates microtubule sliding in motile axonemes. Binds calmodulinwhen cellular Ca(2+) levels are low and thereby contributes to theregulation of calcium and calmodulin-dependent protein kinase IV(CAMK4) activity; contributes to the regulation of CAMK4 signalingcascades. Required for normal axoneme assembly in sperm flagella,normal sperm tail formation and for male fertility.{ECO:0000250|UniProtKB:A3KQH2, ECO:0000250|UniProtKB:A8HQ54,ECO:0000250|UniProtKB:Q80W32}. |
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 |
Tgene | >IQCG | chr3:195163524 | chr3:197640913 | ENST00000265239 | - | 6 | 12 | 393_422 | 242 | 444 | Domain | IQ |
Tgene | >IQCG | chr3:195163524 | chr3:197640913 | ENST00000455191 | - | 5 | 11 | 393_422 | 242 | 444 | Domain | IQ |
- 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 |
Hgene | >ACAP2 | chr3:195163524 | chr3:197640913 | ENST00000326793 | - | 1 | 23 | 1_226 | 17 | 779 | Domain | Note=BAR |
Hgene | >ACAP2 | chr3:195163524 | chr3:197640913 | ENST00000326793 | - | 1 | 23 | 266_361 | 17 | 779 | Domain | PH |
Hgene | >ACAP2 | chr3:195163524 | chr3:197640913 | ENST00000326793 | - | 1 | 23 | 399_520 | 17 | 779 | Domain | Arf-GAP |
Hgene | >ACAP2 | chr3:195163524 | chr3:197640913 | ENST00000326793 | - | 1 | 23 | 640_669 | 17 | 779 | Repeat | Note=ANK 1 |
Hgene | >ACAP2 | chr3:195163524 | chr3:197640913 | ENST00000326793 | - | 1 | 23 | 673_702 | 17 | 779 | Repeat | Note=ANK 2 |
Hgene | >ACAP2 | chr3:195163524 | chr3:197640913 | ENST00000326793 | - | 1 | 23 | 706_735 | 17 | 779 | Repeat | Note=ANK 3 |
Hgene | >ACAP2 | chr3:195163524 | chr3:197640913 | ENST00000326793 | - | 1 | 23 | 414_437 | 17 | 779 | Zinc finger | C4-type |
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FusionGeneSequence for ACAP2_IQCG |
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. |
>In-frame_ACAP2_ENST00000326793_chr3_195163524_-_IQCG_ENST00000265239_chr3_197640913_-_219aa MKMTVDFEECLKDSPRFRVRMSILLTSRTNCKRXRQNPTWRIATXKPIPSCRLPRPRKSVTEQRNSWWKRLRNSGXKPKKRPGLIQRLKC SLERSSRNLRRGWSSGWRNTIRTQKXNRMNXMLSKPQRPVTXHTFKTWQRXXESMNRSSLKIVXKRRGARRRXNRISWNXRALXSSRPGG >In-frame_ACAP2_ENST00000326793_chr3_195163524_-_IQCG_ENST00000455191_chr3_197640913_-_219aa MKMTVDFEECLKDSPRFRVRMSILLTSRTNCKRXRQNPTWRIATXKPIPSCRLPRPRKSVTEQRNSWWKRLRNSGXKPKKRPGLIQRLKC SLERSSRNLRRGWSSGWRNTIRTQKXNRMNXMLSKPQRPVTXHTFKTWQRXXESMNRSSLKIVXKRRGARRRXNRISWNXRALXSSRPGG |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_ACAP2_ENST00000326793_chr3_195163524_-_IQCG_ENST00000265239_chr3_197640913_-_659nt ATGAAGATGACTGTGGATTTCGAGGAGTGTCTGAAGGACTCGCCCCGCTTCAGAGTCAGAATGAGTATATTGCTAACCTCAAGGACCAAC TGCAAGAGATGAAGGCAAAATCCAACTTGGAGAATCGCTACATGAAAACCAATACCGAGCTGCAGATTGCCCAGACCCAGAAAAAGTGTA ACAGAACAGAGGAACTCTTGGTGGAAGAGATTGAGAAACTCAGGATGAAAACCGAAGAAGAGGCCCGGACTCATACAGAGATTGAAATGT TCCTTAGAAAGGAGCAGCAGAAACTTGAGGAGAGGCTGGAGTTCTGGATGGAGAAATACGATAAGGACACAGAAATGAAACAGAATGAAC TAAATGCTCTCAAAGCCACAAAGGCCAGTGACTTAGCACACCTTCAAGACCTGGCAAAGATGATAAGAGAGTATGAACAGGTCATCATTG AAGATCGTATAGAAAAGGAGAGGAGCAAGAAGAAGGTAAAACAGGATCTCTTGGAATTAAAGAGCGTTATAAAGCTCCAGGCCTGGTGGC GAGGCACTATGATACGGAGAGAAATTGGTGGTTTCAAGATGCCTAAAGACAAAGTTGATAGCAAGGATTCAAAAGGCAAAGGTAAAGGCA >In-frame_ACAP2_ENST00000326793_chr3_195163524_-_IQCG_ENST00000455191_chr3_197640913_-_659nt ATGAAGATGACTGTGGATTTCGAGGAGTGTCTGAAGGACTCGCCCCGCTTCAGAGTCAGAATGAGTATATTGCTAACCTCAAGGACCAAC TGCAAGAGATGAAGGCAAAATCCAACTTGGAGAATCGCTACATGAAAACCAATACCGAGCTGCAGATTGCCCAGACCCAGAAAAAGTGTA ACAGAACAGAGGAACTCTTGGTGGAAGAGATTGAGAAACTCAGGATGAAAACCGAAGAAGAGGCCCGGACTCATACAGAGATTGAAATGT TCCTTAGAAAGGAGCAGCAGAAACTTGAGGAGAGGCTGGAGTTCTGGATGGAGAAATACGATAAGGACACAGAAATGAAACAGAATGAAC TAAATGCTCTCAAAGCCACAAAGGCCAGTGACTTAGCACACCTTCAAGACCTGGCAAAGATGATAAGAGAGTATGAACAGGTCATCATTG AAGATCGTATAGAAAAGGAGAGGAGCAAGAAGAAGGTAAAACAGGATCTCTTGGAATTAAAGAGCGTTATAAAGCTCCAGGCCTGGTGGC GAGGCACTATGATACGGAGAGAAATTGGTGGTTTCAAGATGCCTAAAGACAAAGTTGATAGCAAGGATTCAAAAGGCAAAGGTAAAGGCA |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_ACAP2_ENST00000326793_chr3_195163524_-_IQCG_ENST00000265239_chr3_197640913_-_1395nt CGTTTCCCTGCGGCCAGCGCTCTACTTGGGGCGGGAGGAAGAGGGGCGGGACTGGGGCCTGACTAGTCGTCGCCGTCTTCGCGGCTGCTA TGACCAGCGGGCGAGGCGCCCTTCGCAGCTCCGCGCAACGCTAGTCGCGGCCGTGCGCCCGCCGTAGCCGTCTGCGTCCCAGCGCGGCCG CTCCCGCGGCCCCCTCGGCTTTGCCAGCGCCGCCTGCGAGGCGGAGGCAGGATGAAGATGACTGTGGATTTCGAGGAGTGTCTGAAGGAC TCGCCCCGCTTCAGAGTCAGAATGAGTATATTGCTAACCTCAAGGACCAACTGCAAGAGATGAAGGCAAAATCCAACTTGGAGAATCGCT ACATGAAAACCAATACCGAGCTGCAGATTGCCCAGACCCAGAAAAAGTGTAACAGAACAGAGGAACTCTTGGTGGAAGAGATTGAGAAAC TCAGGATGAAAACCGAAGAAGAGGCCCGGACTCATACAGAGATTGAAATGTTCCTTAGAAAGGAGCAGCAGAAACTTGAGGAGAGGCTGG AGTTCTGGATGGAGAAATACGATAAGGACACAGAAATGAAACAGAATGAACTAAATGCTCTCAAAGCCACAAAGGCCAGTGACTTAGCAC ACCTTCAAGACCTGGCAAAGATGATAAGAGAGTATGAACAGGTCATCATTGAAGATCGTATAGAAAAGGAGAGGAGCAAGAAGAAGGTAA AACAGGATCTCTTGGAATTAAAGAGCGTTATAAAGCTCCAGGCCTGGTGGCGAGGCACTATGATACGGAGAGAAATTGGTGGTTTCAAGA TGCCTAAAGACAAAGTTGATAGCAAGGATTCAAAAGGCAAAGGTAAAGGCAAGGATAAGAGGAGAGGCAAGAAGAAGTGACCAAGTTCTC TTTTGTGTTTTCTGCTGGTATTCTGGAGGTGGGAAGGACTTGGAGAGAGTTAAGAAACACCTGGTACCTCAAAGATGACTCATCTACAGG TTGTTTCCTATTGAGACTTTCCCAGGGAAGCCTGATTTCACTTTGCCTGTTAATTTCACTCTGCCTGTTAGGTGGGTTTTCAAACCCTGA TTTAGGATTACACCATTGACTTAGGGCTTCCTCATACCTTGCTGGGAAGAAGTTTCTAGTAGTCCTGTGAAGATTCATTCTTCTTGCTCT TTCTCAGCAGAACAAAGGAGTTCACTGGCTTAGCTACAGTGACGCATTGAAACTTGAGTAATTCCTGTAATGTCAGATTTTGATTTTACC CAATTTGTCTGTAGTGAAAAAACTCTTATGAGCAAAAGTATTCAGTAGGAATTACAATATGATGTTATTAGCTGTCCAGCATAATATATA >In-frame_ACAP2_ENST00000326793_chr3_195163524_-_IQCG_ENST00000455191_chr3_197640913_-_1393nt CGTTTCCCTGCGGCCAGCGCTCTACTTGGGGCGGGAGGAAGAGGGGCGGGACTGGGGCCTGACTAGTCGTCGCCGTCTTCGCGGCTGCTA TGACCAGCGGGCGAGGCGCCCTTCGCAGCTCCGCGCAACGCTAGTCGCGGCCGTGCGCCCGCCGTAGCCGTCTGCGTCCCAGCGCGGCCG CTCCCGCGGCCCCCTCGGCTTTGCCAGCGCCGCCTGCGAGGCGGAGGCAGGATGAAGATGACTGTGGATTTCGAGGAGTGTCTGAAGGAC TCGCCCCGCTTCAGAGTCAGAATGAGTATATTGCTAACCTCAAGGACCAACTGCAAGAGATGAAGGCAAAATCCAACTTGGAGAATCGCT ACATGAAAACCAATACCGAGCTGCAGATTGCCCAGACCCAGAAAAAGTGTAACAGAACAGAGGAACTCTTGGTGGAAGAGATTGAGAAAC TCAGGATGAAAACCGAAGAAGAGGCCCGGACTCATACAGAGATTGAAATGTTCCTTAGAAAGGAGCAGCAGAAACTTGAGGAGAGGCTGG AGTTCTGGATGGAGAAATACGATAAGGACACAGAAATGAAACAGAATGAACTAAATGCTCTCAAAGCCACAAAGGCCAGTGACTTAGCAC ACCTTCAAGACCTGGCAAAGATGATAAGAGAGTATGAACAGGTCATCATTGAAGATCGTATAGAAAAGGAGAGGAGCAAGAAGAAGGTAA AACAGGATCTCTTGGAATTAAAGAGCGTTATAAAGCTCCAGGCCTGGTGGCGAGGCACTATGATACGGAGAGAAATTGGTGGTTTCAAGA TGCCTAAAGACAAAGTTGATAGCAAGGATTCAAAAGGCAAAGGTAAAGGCAAGGATAAGAGGAGAGGCAAGAAGAAGTGACCAAGTTCTC TTTTGTGTTTTCTGCTGGTATTCTGGAGGTGGGAAGGACTTGGAGAGAGTTAAGAAACACCTGGTACCTCAAAGATGACTCATCTACAGG TTGTTTCCTATTGAGACTTTCCCAGGGAAGCCTGATTTCACTTTGCCTGTTAATTTCACTCTGCCTGTTAGGTGGGTTTTCAAACCCTGA TTTAGGATTACACCATTGACTTAGGGCTTCCTCATACCTTGCTGGGAAGAAGTTTCTAGTAGTCCTGTGAAGATTCATTCTTCTTGCTCT TTCTCAGCAGAACAAAGGAGTTCACTGGCTTAGCTACAGTGACGCATTGAAACTTGAGTAATTCCTGTAATGTCAGATTTTGATTTTACC CAATTTGTCTGTAGTGAAAAAACTCTTATGAGCAAAAGTATTCAGTAGGAATTACAATATGATGTTATTAGCTGTCCAGCATAATATATA |
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FusionGenePPI for ACAP2_IQCG |
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 |
ACAP2 | SMURF1, HSPB1, RAB11FIP3, MED4, PDK3, SOAT1, NDUFS1, NDUFA9, PIGS, MBOAT7, EHBP1, GDI1, GPAA1, CYLD | IQCG | BAG6, GSK3B |
- 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 ACAP2_IQCG |
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 ACAP2_IQCG |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |