| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 55193 |
Name | PBRM1 |
Synonym | BAF180|PB1;polybromo 1;PBRM1;polybromo 1 |
Definition | BRG1-associated factor 180|polybromo-1D|protein polybromo-1 |
Position | 3p21 |
Gene Type | protein-coding |
|
PAH Type |
Description |
PAH | "We observed linkage evidence in four regions: 3q22 ([median log of the odds (LOD) = 3.43]), 3p12 (median LOD) = 2.35), 2p22 (median LOD = 2.21), and 13q21 (median LOD = 2.09). When used in conjunction with the non-parametric bootstrap, our approach yields high-resolution to identify candidate gene regions containing putative BMPR2-interacting genes. Imputation of the disease model by LOD-score maximization indicates that the 3q22 locus alone predicts most FPAH cases in BMPR2 mutation carriers, providing strong evidence that BMPR2 and the 3q22 locus interact epistatically." |
| More detail of all Human literatures about PBRM1 | |
|
External Links |
|
Links to Entrez Gene | 55193 |
Links to all GeneRIF Items | 55193 |
Links to iHOP | 55193 |
|
Sequence Information |
|
Nucleotide Sequence |
>55193 : length: 4809 atgggttccaagagaagaagagctacctccccttccagcagtgtcagcggggactttgat gatgggcaccattctgtgtcaacaccaggcccaagcaggaaaaggaggagactttccaat cttccaactgtagatcctattgccgtgtgccatgaactctataataccatccgagactat aaggatgaacagggcagacttctctgtgagctcttcattagggcaccaaagcgaagaaat caaccagactattatgaagtggtttctcagcccattgacttgatgaaaatccaacagaaa ctaaaaatggaagagtatgatgatgttaatttgctgactgctgacttccagcttcttttt aacaatgcaaagtcctattataagccagattctcctgaatataaagccgcttgcaaactc tgggatttgtaccttcgaacaagaaatgagtttgttcagaaaggagaagcagatgacgaa gatgatgatgaagatgggcaagacaatcagggcacagtgactgaaggatcttctccagct tacttgaaggagatcctggagcagcttcttgaagccatagttgtagctacaaatccatca ggacgtctcattagcgaactttttcagaaactgccttctaaagtgcaatatccagattat tatgcaataattaaggagcctatagatctcaagaccattgcccagaggatacagaatgga agctacaaaagtattcatgcaatggccaaagatatagatctcctcgcaaaaaatgccaaa acttataatgagcctggctctcaagtattcaaggatgcaaattcaattaaaaaaatattt tatatgaaaaaggctgaaattgaacatcatgaaatggctaagtcaagtcttcgaatgagt aataaaagagcagtacaaggaggtcgtttatcagcaattacaatggcacttcaatatggc tcagaaagtgaagaagatgctgctttagctgctgcacgctatgaagagggagagtcagaa gcagaaagcatcacttcctttatggatgtttcaaatcctttttatcagctttatgacaca gttaggagttgtcggaataaccaagggcagctaatagctgaacctttttaccatttgcct tcaaagaaaaaataccctgattattaccagcaaattaaaatgcccatatcactacaacag atccgaacaaaactgaagaatcaagaatatgaaactttagatcatttggagtgtgatctg aatttaatgtttgaaaatgccaaacgctataatgtgcccaattcagccatctacaagcga gttctaaaattgcagcaagttatgcaggcaaagaagaaagagcttgccaggagagacgat atcgaggacggagacagcatgatctcttcagccacctctgatactggtagtgccaaaaga aaaagtaaaaagaacataagaaagcagcgaatgaaaatcttattcaatgttgttcttgaa gctcgagagccaggttcaggcagaagactttgtgacctatttatggttaaaccatccaaa aaggactatcctgattattataaaatcatcttggagccaatggacttgaaaataattgag cataacatccgcaatgacaaatatgctggtgaagagggaatgatagaagacatgaagctg atgttccggaatgccaggcactataatgaggagggctcccaggtttataatgatgcacat atcctggagaagttactcaaggagaaaaggaaagagctgggcccactgcctgatgatgat gacatggcttctcccaaactcaagctgagtaggaagagtggcatttctcctaaaaaatca aaatacatgactccaatgcagcagaaactaaatgaggtctatgaagctgtaaagaactat actgataagaggggtcgccgcctcagtgccatatttctgaggcttccctctagatctgag ttgcctgactactatctgactattaaaaagcccatggacatggaaaaaattcgaagtcac atgatggccaacaagtaccaagatattgactctatggttgaggactttgtcatgatgttt aataatgcctgtacatacaatgagccggagtctttgatctacaaagatgctcttgttcta cacaaagtcctgcttgaaacacgcagagacctggagggagatgaggactctcatgtccca aatgtgactttgctgattcaagagcttatccacaatctttttgtgtcagtcatgagtcat caggatgatgagggaagatgctacagcgattctttagcagaaattcctgctgtggatccc aactttcctaacaaaccaccccttacatttgacataattaggaagaatgttgaaaataat cgctaccgtcggcttgatttatttcaagagcatatgtttgaagtattggaacgagcaaga aggatgaatcggacagattcagaaatatatgaagatgcagtagaacttcagcagtttttt attaaaattcgtgatgaactctgcaaaaatggagagattcttctttcaccggcactcagc tataccacaaaacatttgcataatgatgtggagaaagagagaaaggaaaaattgccaaaa gaaatagaggaagataaactaaaacgagaagaagaaaaaagagaagctgaaaagagtgaa gattcctctggtgctgcaggcctctcaggcttacatcgcacatacagccaggactgtagc tttaaaaacagcatgtaccatgttggagattacgtctatgtggaacctgcagaggccaac ctacaaccacatatcgtctgtattgaaagactgtgggaggattcagctggtgaaaaatgg ttgtatggctgttggttttaccgaccaaatgaaacattccacctggctacacgaaaattt ctagaaaaagaagtttttaagagtgactattacaacaaagttccagttagtaaaattcta ggcaagtgtgtggtcatgtttgtcaaggaatactttaagttatgcccagaaaacttccga gatgaggatgtttttgtctgtgaatcacggtattctgccaaaaccaaatcttttaagaaa attaaactgtggaccatgcccatcagctcagtcaggtttgtccctcgggatgtgcctctg cctgtggttcgcgtggcctctgtatttgcaaatgcagataaaggtgatgatgagaagaat acagacaactcagaggacagtcgagctgaagacaattttaacttggaaaaggaaaaagaa gatgtccctgtggaaatgtccaatggtgaaccaggttgccactactttgagcagctccat tacaatgacatgtggctgaaggttggcgactgtgtcttcatcaagtcccatggcctggtg cgtcctcgtgtgggcagaattgaaaaagtatgggttcgagatggagctgcatatttttat ggccccatcttcattcacccagaagaaacagagcatgagcccacaaaaatgttctacaaa aaagaagtatttctgagtaatctggaagaaacctgccccatgacatgtattctcggaaag tgtgctgtgttgtcattcaaggacttcctctcctgcaggccaactgaaataccagaaaat gacattctgctttgtgagagccgctacaatgagagcgacaagcagatgaagaaattcaaa ggattgaagaggttttcactctctgctaaagtggtagatgatgaaatttactacttcaga aaaccaattgttcctcagaaggagccatcacctttgctggaaaagaagatccagttgcta gaagctaaatttgccgagttagaaggtggagatgatgatattgaagagatgggagaagaa gatagtgaggtcattgaacctccttctctacctcagcttcagacccccctggccagtgag ctggacctcatgccctacacacccccacagtctaccccaaagtctgccaaaggcagtgca aagaaggaaggctccaaacggaaaatcaacatgagtggctacatcctgttcagcagtgag atgagggctgtgattaaggcccaacacccagactactctttcggggagctcagccgcctg gtggggacagaatggagaaatcttgagacagccaagaaagcagaatatgaaggcatgatg ggtggctatccgccaggccttccacctttgcagggcccagttgatggccttgttagcatg ggcagcatgcagccacttcaccctggggggcctccaccccaccatcttccgccaggtgtg cctggcctcccgggcatcccaccaccgggtgtgatgaaccaaggagtggcccctatggta gggactccagcaccaggtggaagtccatatggacaacaggtgggagttttggggcctcca gggcagcaggcaccacctccatatcccggcccacatccagctggaccccctgtcatacag cagccaacaacacccatgtttgtagctcccccaccaaagacccagcggcttcttcactca gaggcctacctgaaatacattgaaggactcagtgcggagtccaacagcattagcaagtgg gatcagacactggcagctcgaagacgcgacgtccatttgtcgaaagaacaggagagccgc ctaccctctcactggctgaaaagcaaaggggcccacaccaccatggcagatgccctctgg cgccttcgagatttgatgctccgggacaccctcaacattcgccaagcatacaacctagaa aatgtttaa |
Protein Sequence |
>55193 : length: 1602 MGSKRRRATSPSSSVSGDFDDGHHSVSTPGPSRKRRRLSNLPTVDPIAVCHELYNTIRDY KDEQGRLLCELFIRAPKRRNQPDYYEVVSQPIDLMKIQQKLKMEEYDDVNLLTADFQLLF NNAKSYYKPDSPEYKAACKLWDLYLRTRNEFVQKGEADDEDDDEDGQDNQGTVTEGSSPA YLKEILEQLLEAIVVATNPSGRLISELFQKLPSKVQYPDYYAIIKEPIDLKTIAQRIQNG SYKSIHAMAKDIDLLAKNAKTYNEPGSQVFKDANSIKKIFYMKKAEIEHHEMAKSSLRMS NKRAVQGGRLSAITMALQYGSESEEDAALAAARYEEGESEAESITSFMDVSNPFYQLYDT VRSCRNNQGQLIAEPFYHLPSKKKYPDYYQQIKMPISLQQIRTKLKNQEYETLDHLECDL NLMFENAKRYNVPNSAIYKRVLKLQQVMQAKKKELARRDDIEDGDSMISSATSDTGSAKR KSKKNIRKQRMKILFNVVLEAREPGSGRRLCDLFMVKPSKKDYPDYYKIILEPMDLKIIE HNIRNDKYAGEEGMIEDMKLMFRNARHYNEEGSQVYNDAHILEKLLKEKRKELGPLPDDD DMASPKLKLSRKSGISPKKSKYMTPMQQKLNEVYEAVKNYTDKRGRRLSAIFLRLPSRSE LPDYYLTIKKPMDMEKIRSHMMANKYQDIDSMVEDFVMMFNNACTYNEPESLIYKDALVL HKVLLETRRDLEGDEDSHVPNVTLLIQELIHNLFVSVMSHQDDEGRCYSDSLAEIPAVDP NFPNKPPLTFDIIRKNVENNRYRRLDLFQEHMFEVLERARRMNRTDSEIYEDAVELQQFF IKIRDELCKNGEILLSPALSYTTKHLHNDVEKERKEKLPKEIEEDKLKREEEKREAEKSE DSSGAAGLSGLHRTYSQDCSFKNSMYHVGDYVYVEPAEANLQPHIVCIERLWEDSAGEKW LYGCWFYRPNETFHLATRKFLEKEVFKSDYYNKVPVSKILGKCVVMFVKEYFKLCPENFR DEDVFVCESRYSAKTKSFKKIKLWTMPISSVRFVPRDVPLPVVRVASVFANADKGDDEKN TDNSEDSRAEDNFNLEKEKEDVPVEMSNGEPGCHYFEQLHYNDMWLKVGDCVFIKSHGLV RPRVGRIEKVWVRDGAAYFYGPIFIHPEETEHEPTKMFYKKEVFLSNLEETCPMTCILGK CAVLSFKDFLSCRPTEIPENDILLCESRYNESDKQMKKFKGLKRFSLSAKVVDDEIYYFR KPIVPQKEPSPLLEKKIQLLEAKFAELEGGDDDIEEMGEEDSEVIEPPSLPQLQTPLASE LDLMPYTPPQSTPKSAKGSAKKEGSKRKINMSGYILFSSEMRAVIKAQHPDYSFGELSRL VGTEWRNLETAKKAEYEGMMGGYPPGLPPLQGPVDGLVSMGSMQPLHPGGPPPHHLPPGV PGLPGIPPPGVMNQGVAPMVGTPAPGGSPYGQQVGVLGPPGQQAPPPYPGPHPAGPPVIQ QPTTPMFVAPPPKTQRLLHSEAYLKYIEGLSAESNSISKWDQTLAARRRDVHLSKEQESR LPSHWLKSKGAHTTMADALWRLRDLMLRDTLNIRQAYNLENV |