AutismKB 2.0

Evidence Details for PBRM1


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Basic Information Top
Gene Symbol:PBRM1 ( BAF180,MGC156155,MGC156156,PB1 )
Gene Full Name: polybromo 1
Band: 3p21.1
Quick LinksEntrez ID:55193; OMIM: 606083; Uniprot ID:PB1_HUMAN; ENSEMBL ID: ENSG00000163939; HGNC ID: 30064
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PBRM1|55193|nucleotide
ATGGGTTCCAAGAGAAGAAGAGCTACCTCCCCTTCCAGCAGTGTCAGCGGGGACTTTGATGATGGGCACCATTCTGTGTCAACACCAGGCCCAAGCAGGAAAAGG
AGGAGACTTTCCAATCTTCCAACTGTAGATCCTATTGCCGTGTGCCATGAACTCTATAATACCATCCGAGACTATAAGGATGAACAGGGCAGACTTCTCTGTGAG
CTCTTCATTAGGGCACCAAAGCGAAGAAATCAACCAGACTATTATGAAGTGGTTTCTCAGCCCATTGACTTGATGAAAATCCAACAGAAACTAAAAATGGAAGAG
TATGATGATGTTAATTTGCTGACTGCTGACTTCCAGCTTCTTTTTAACAATGCAAAGTCCTATTATAAGCCAGATTCTCCTGAATATAAAGCCGCTTGCAAACTC
TGGGATTTGTACCTTCGAACAAGAAATGAGTTTGTTCAGAAAGGAGAAGCAGATGACGAAGATGATGATGAAGATGGGCAAGACAATCAGGGCACAGTGACTGAA
GGATCTTCTCCAGCTTACTTGAAGGAGATCCTGGAGCAGCTTCTTGAAGCCATAGTTGTAGCTACAAATCCATCAGGACGTCTCATTAGCGAACTTTTTCAGAAA
CTGCCTTCTAAAGTGCAATATCCAGATTATTATGCAATAATTAAGGAGCCTATAGATCTCAAGACCATTGCCCAGAGGATACAGAATGGAAGCTACAAAAGTATT
CATGCAATGGCCAAAGATATAGATCTCCTCGCAAAAAATGCCAAAACTTATAATGAGCCTGGCTCTCAAGTATTCAAGGATGCAAATTCAATTAAAAAAATATTT
TATATGAAAAAGGCTGAAATTGAACATCATGAAATGGCTAAGTCAAGTCTTCGAATGAGTAATAAAAGAGCAGTACAAGGAGGTCGTTTATCAGCAATTACAATG
GCACTTCAATATGGCTCAGAAAGTGAAGAAGATGCTGCTTTAGCTGCTGCACGCTATGAAGAGGGAGAGTCAGAAGCAGAAAGCATCACTTCCTTTATGGATGTT
TCAAATCCTTTTTATCAGCTTTATGACACAGTTAGGAGTTGTCGGAATAACCAAGGGCAGCTAATAGCTGAACCTTTTTACCATTTGCCTTCAAAGAAAAAATAC
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>PBRM1|55193|protein
MGSKRRRATSPSSSVSGDFDDGHHSVSTPGPSRKRRRLSNLPTVDPIAVCHELYNTIRDYKDEQGRLLCELFIRAPKRRNQPDYYEVVSQPIDLMKIQQKLKMEE
YDDVNLLTADFQLLFNNAKSYYKPDSPEYKAACKLWDLYLRTRNEFVQKGEADDEDDDEDGQDNQGTVTEGSSPAYLKEILEQLLEAIVVATNPSGRLISELFQK
LPSKVQYPDYYAIIKEPIDLKTIAQRIQNGSYKSIHAMAKDIDLLAKNAKTYNEPGSQVFKDANSIKKIFYMKKAEIEHHEMAKSSLRMSNKRAVQGGRLSAITM
ALQYGSESEEDAALAAARYEEGESEAESITSFMDVSNPFYQLYDTVRSCRNNQGQLIAEPFYHLPSKKKYPDYYQQIKMPISLQQIRTKLKNQEYETLDHLECDL
NLMFENAKRYNVPNSAIYKRVLKLQQVMQAKKKELARRDDIEDGDSMISSATSDTGSAKRKSKKNIRKQRMKILFNVVLEAREPGSGRRLCDLFMVKPSKKDYPD
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top