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Fusion gene ID: 30398 |
FusionGeneSummary for RAP1GAP_NSDHL |
Fusion gene summary |
Fusion gene information | Fusion gene name: RAP1GAP_NSDHL | Fusion gene ID: 30398 | Hgene | Tgene | Gene symbol | RAP1GAP | NSDHL | Gene ID | 5909 | 50814 |
Gene name | RAP1 GTPase activating protein | NAD(P) dependent steroid dehydrogenase-like | |
Synonyms | RAP1GA1|RAP1GAP1|RAP1GAPII|RAPGAP | H105E3|SDR31E1|XAP104 | |
Cytomap | 1p36.12 | Xq28 | |
Type of gene | protein-coding | protein-coding | |
Description | rap1 GTPase-activating protein 1 | sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylatingprotein H105e3short chain dehydrogenase/reductase family 31E, member 1 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | P47736 | Q15738 | |
Ensembl transtripts involved in fusion gene | ENST00000374761, ENST00000290101, ENST00000374763, ENST00000374765, ENST00000542643, ENST00000374757, | ENST00000440023, ENST00000370274, | |
Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 1 X 1 X 1=1 |
# samples | 7 | 1 | |
** MAII score | log2(7/150*10)=-1.09953567355091 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: RAP1GAP [Title/Abstract] AND NSDHL [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 | RAP1GAP | GO:0043087 | regulation of GTPase activity | 18309292 |
Hgene | RAP1GAP | GO:0043547 | positive regulation of GTPase activity | 15141215 |
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 | LGG | TCGA-KT-A7W1-01A | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
* 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 |
intron-3CDS | ENST00000374761 | ENST00000440023 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
intron-3CDS | ENST00000374761 | ENST00000370274 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
In-frame | ENST00000290101 | ENST00000440023 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
In-frame | ENST00000290101 | ENST00000370274 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
intron-3CDS | ENST00000374763 | ENST00000440023 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
intron-3CDS | ENST00000374763 | ENST00000370274 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
5UTR-3CDS | ENST00000374765 | ENST00000440023 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
5UTR-3CDS | ENST00000374765 | ENST00000370274 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
5UTR-3CDS | ENST00000542643 | ENST00000440023 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
5UTR-3CDS | ENST00000542643 | ENST00000370274 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
5UTR-3CDS | ENST00000374757 | ENST00000440023 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
5UTR-3CDS | ENST00000374757 | ENST00000370274 | RAP1GAP | chr1 | 21976254 | - | NSDHL | chrX | 152027314 | + |
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FusionProtFeatures for RAP1GAP_NSDHL |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RAP1GAP | NSDHL |
GTPase activator for the nuclear Ras-related regulatoryprotein RAP-1A (KREV-1), converting it to the putatively inactiveGDP-bound state. {ECO:0000269|PubMed:15141215}. | Involved in the sequential removal of two C-4 methylgroups in post-squalene cholesterol biosynthesis.{ECO:0000269|PubMed:14506130}. |
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 RAP1GAP_NSDHL |
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_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000440023_chrX_152027314_+_311aa MSGRKRSFTFGAYGGVDKSFTSRRSVWICTQLXKVXTQFSTVRHPHHPVTTRSSFIEXITLAPRMSLKLAKRLGFRNSFXPAVPVSSLRA SISRMELKTFPMPXNPLTTTQRLRSYRRGQFWAPTILRRISXPQPSALMAFSAQGTRSWYPSSSRQPGTARXSSXLEMGRTWWTSPLWRT WSMDTSWRQSSSPETRHWVGRHFTSPMMSPSLSGHSCLASXQASIMRPPSTTSPTGWPTTWPSCYPCWXWXSVLSSSCSPPSHPCGSHWL >In-frame_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000370274_chrX_152027314_+_311aa MSGRKRSFTFGAYGGVDKSFTSRRSVWICTQLXKVXTQFSTVRHPHHPVTTRSSFIEXITLAPRMSLKLAKRLGFRNSFXPAVPVSSLRA SISRMELKTFPMPXNPLTTTQRLRSYRRGQFWAPTILRRISXPQPSALMAFSAQGTRSWYPSSSRQPGTARXSSXLEMGRTWWTSPLWRT WSMDTSWRQSSSPETRHWVGRHFTSPMMSPSLSGHSCLASXQASIMRPPSTTSPTGWPTTWPSCYPCWXWXSVLSSSCSPPSHPCGSHWL |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000440023_chrX_152027314_+_935nt ATGAGCGGCCGGAAGCGCAGCTTCACCTTCGGGGCCTACGGCGGGGTGGACAAGTCCTTCACTTCTCGCCGGAGTGTGTGGATCTGTACC CAGCTCTGAAAGGTGTAAACACAGTTTTCCACTGTGCGTCACCCCCACCATCCAGTAACAACAAGGAGCTCTTTTATAGAGTGAATTACA TTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGAAACTCATTTTAACCAGCAGTGCCAGTGTCATCTTTGAGGGCG TCGATATCAAGAATGGAACTGAAGACCTTCCCTATGCCATGAAACCCATTGACTACTACACAGAGACTAAGATCTTACAGGAGAGGGCAG TTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTAC CCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGAAATGGGAAGAACTTGGTGGACTTCACCTTTGTGGAGAACG TGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTGGGAAGGCATTTCACATCACCAATGATGAGCCCA TCCCTTTCTGGACATTCCTGTCTCGCATCCTGACAGGCCTCAATTATGAGGCCCCCAAGTACCACATCCCCTACTGGGTGGCCTACTACC TGGCCCTCCTGCTATCCCTGCTGGTGATGGTGATCAGTCCTGTCATCCAGCTGCAGCCCACCTTCACACCCATGCGGGTCGCACTGGCTG GCACATTCCACTACTACAGCTGCGAGAGAGCCAAAAAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGCTATGGAGAGGACCG >In-frame_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000370274_chrX_152027314_+_935nt ATGAGCGGCCGGAAGCGCAGCTTCACCTTCGGGGCCTACGGCGGGGTGGACAAGTCCTTCACTTCTCGCCGGAGTGTGTGGATCTGTACC CAGCTCTGAAAGGTGTAAACACAGTTTTCCACTGTGCGTCACCCCCACCATCCAGTAACAACAAGGAGCTCTTTTATAGAGTGAATTACA TTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGAAACTCATTTTAACCAGCAGTGCCAGTGTCATCTTTGAGGGCG TCGATATCAAGAATGGAACTGAAGACCTTCCCTATGCCATGAAACCCATTGACTACTACACAGAGACTAAGATCTTACAGGAGAGGGCAG TTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTAC CCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGAAATGGGAAGAACTTGGTGGACTTCACCTTTGTGGAGAACG TGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTGGGAAGGCATTTCACATCACCAATGATGAGCCCA TCCCTTTCTGGACATTCCTGTCTCGCATCCTGACAGGCCTCAATTATGAGGCCCCCAAGTACCACATCCCCTACTGGGTGGCCTACTACC TGGCCCTCCTGCTATCCCTGCTGGTGATGGTGATCAGTCCTGTCATCCAGCTGCAGCCCACCTTCACACCCATGCGGGTCGCACTGGCTG GCACATTCCACTACTACAGCTGCGAGAGAGCCAAAAAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGCTATGGAGAGGACCG |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000440023_chrX_152027314_+_1215nt GCGCGGGCCGGGCCGGGCGGCGGCGGCGGCACCATGAGCGGCCGGAAGCGCAGCTTCACCTTCGGGGCCTACGGCGGGGTGGACAAGTCC TTCACTTCTCGCCGGAGTGTGTGGATCTGTACCCAGCTCTGAAAGGTGTAAACACAGTTTTCCACTGTGCGTCACCCCCACCATCCAGTA ACAACAAGGAGCTCTTTTATAGAGTGAATTACATTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGAAACTCATTT TAACCAGCAGTGCCAGTGTCATCTTTGAGGGCGTCGATATCAAGAATGGAACTGAAGACCTTCCCTATGCCATGAAACCCATTGACTACT ACACAGAGACTAAGATCTTACAGGAGAGGGCAGTTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATG GCATTTTCGGCCCAAGGGACCCGCAGTTGGTACCCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGAAATGGGA AGAACTTGGTGGACTTCACCTTTGTGGAGAACGTGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTG GGAAGGCATTTCACATCACCAATGATGAGCCCATCCCTTTCTGGACATTCCTGTCTCGCATCCTGACAGGCCTCAATTATGAGGCCCCCA AGTACCACATCCCCTACTGGGTGGCCTACTACCTGGCCCTCCTGCTATCCCTGCTGGTGATGGTGATCAGTCCTGTCATCCAGCTGCAGC CCACCTTCACACCCATGCGGGTCGCACTGGCTGGCACATTCCACTACTACAGCTGCGAGAGAGCCAAAAAGGCCATGGGCTACCAGCCAC TAGTGACCATGGATGATGCTATGGAGAGGACCGTGCAGAGCTTTCGCCACCTGCGGAGGGTCAAGTGAGGGACACTGGAGGCTGGGCTCT CTCGACACGTTGCTCAGCCAGTCACTCCTTCCCCTGTGGATTGATGAAATAACATCCTTTGAATGAGTTTGCTCTGAGCCTGTGACTCCT TCTGCTAGGCAGAGAGCGCACCCTACTCTTTCCGTGACGATGAGGGCGGCAAAAACAGACATTTCTTCCTTCATGGAACTGGATTTGGAT >In-frame_RAP1GAP_ENST00000290101_chr1_21976254_-_NSDHL_ENST00000370274_chrX_152027314_+_1581nt GCGCGGGCCGGGCCGGGCGGCGGCGGCGGCACCATGAGCGGCCGGAAGCGCAGCTTCACCTTCGGGGCCTACGGCGGGGTGGACAAGTCC TTCACTTCTCGCCGGAGTGTGTGGATCTGTACCCAGCTCTGAAAGGTGTAAACACAGTTTTCCACTGTGCGTCACCCCCACCATCCAGTA ACAACAAGGAGCTCTTTTATAGAGTGAATTACATTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGAAACTCATTT TAACCAGCAGTGCCAGTGTCATCTTTGAGGGCGTCGATATCAAGAATGGAACTGAAGACCTTCCCTATGCCATGAAACCCATTGACTACT ACACAGAGACTAAGATCTTACAGGAGAGGGCAGTTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCTCATG GCATTTTCGGCCCAAGGGACCCGCAGTTGGTACCCATCCTCATCGAGGCAGCCAGGAACGGCAAGATGAAGTTCGTGATTGGAAATGGGA AGAACTTGGTGGACTTCACCTTTGTGGAGAACGTGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTGGGTG GGAAGGCATTTCACATCACCAATGATGAGCCCATCCCTTTCTGGACATTCCTGTCTCGCATCCTGACAGGCCTCAATTATGAGGCCCCCA AGTACCACATCCCCTACTGGGTGGCCTACTACCTGGCCCTCCTGCTATCCCTGCTGGTGATGGTGATCAGTCCTGTCATCCAGCTGCAGC CCACCTTCACACCCATGCGGGTCGCACTGGCTGGCACATTCCACTACTACAGCTGCGAGAGAGCCAAAAAGGCCATGGGCTACCAGCCAC TAGTGACCATGGATGATGCTATGGAGAGGACCGTGCAGAGCTTTCGCCACCTGCGGAGGGTCAAGTGAGGGACACTGGAGGCTGGGCTCT CTCGACACGTTGCTCAGCCAGTCACTCCTTCCCCTGTGGATTGATGAAATAACATCCTTTGAATGAGTTTGCTCTGAGCCTGTGACTCCT TCTGCTAGGCAGAGAGCGCACCCTACTCTTTCCGTGACGATGAGGGCGGCAAAAACAGACATTTCTTCCTTCATGGAACTGGATTTGGAT TTCTTGAAGCAGGCAGCTTCATATTATACCGATTTGTTCTCTGTCTTTTTGTGTCTCTCTGTTTACCCCCTCCCTTGCCCCCTCTTCTGG TTTATACATTTCATTCCAGTGTCCTTGTACATAATCAAGGAAGCTGTAGGAAGCTACAACCCATTTGTTAGTTCTGATGGAGAACCATTT CCATGCAGACCAATACTAGAGTGAAGCCTCTAGACTTTGTTCAAGATACTCTATCTTCAAAATATCCCAGAAGAAAAACAGAAGCTGTTA ACACACAGGTGAGACTTTACATATACATTTCATACTGACAGTGAGCTTAGAGCAAAAGCTGAAAGCTGAAATGACTGTAATTCCTCCCCA |
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FusionGenePPI for RAP1GAP_NSDHL |
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 |
RAP1GAP | MLLT4, MEX3B, PFN2, BRAF, RAP1A, GNAZ, DYNC1I1, MAPK6, MAP1LC3B, CSNK1G2, CNR1, BTRC, FBXW11, PLK1, EZH2, GNAI3, XPO1 | NSDHL | FUS, MOV10, NXF1, TMEM30A, HLA-C, RARS2, CCNL2, HTR3C, CYP1A1, TCTN2, TCTN3, EVC2, TMEM17, TMEM216, FOXB1, FOXG1, FOXI2, FOXL1, FOXL2, USP47, HCCS, COMT |
- 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 RAP1GAP_NSDHL |
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 RAP1GAP_NSDHL |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RAP1GAP | C0025202 | melanoma | 2 | CTD_human |
Hgene | RAP1GAP | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
Hgene | RAP1GAP | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
Hgene | RAP1GAP | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
Tgene | NSDHL | C0265267 | Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | NSDHL | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human |