AutismKB 2.0

Evidence Details for PAK1


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Basic Information Top
Gene Symbol:PAK1 ( MGC130000,MGC130001,PAKalpha )
Gene Full Name: p21 protein (Cdc42/Rac)-activated kinase 1
Band: 11q13.5-q14.1
Quick LinksEntrez ID:5058; OMIM: 602590; Uniprot ID:PAK1_HUMAN; ENSEMBL ID: ENSG00000149269; HGNC ID: 8590
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PAK1|5058|nucleotide
ATGTCAAATAACGGCCTAGACATTCAAGACAAACCCCCAGCCCCTCCGATGAGAAATACCAGCACTATGATTGGAGCCGGCAGCAAAGATGCTGGAACCCTAAAC
CATGGTTCTAAACCTCTGCCTCCAAACCCAGAGGAGAAGAAAAAGAAGGACCGATTTTACCGATCCATTTTACCTGGAGATAAAACAAATAAAAAGAAAGAGAAA
GAGCGGCCAGAGATTTCTCTCCCTTCAGATTTTGAACACACAATTCATGTCGGTTTTGATGCTGTCACAGGGGAGTTTACGGGAATGCCAGAGCAGTGGGCCCGC
TTGCTTCAGACATCAAATATCACTAAGTCGGAGCAGAAGAAAAACCCGCAGGCTGTTCTGGATGTGTTGGAGTTTTACAACTCGAAGAAGACATCCAACAGCCAG
AAATACATGAGCTTTACAGATAAGTCAGCTGAGGATTACAATTCTTCTAATGCCTTGAATGTGAAGGCTGTGTCTGAGACTCCTGCAGTGCCACCAGTTTCAGAA
GATGAGGATGATGATGATGATGATGCTACCCCACCACCAGTGATTGCTCCACGCCCAGAGCACACAAAATCTGTATACACACGGTCTGTGATTGAACCACTTCCT
GTCACTCCAACTCGGGACGTGGCTACATCTCCCATTTCACCTACTGAAAATAACACCACTCCACCAGATGCTTTGACCCGGAATACTGAGAAGCAGAAGAAGAAG
CCTAAAATGTCTGATGAGGAGATCTTGGAGAAATTACGAAGCATAGTGAGTGTGGGCGATCCTAAGAAGAAATATACACGGTTTGAGAAGATTGGACAAGGTGCT
TCAGGCACCGTGTACACAGCAATGGATGTGGCCACAGGACAGGAGGTGGCCATTAAGCAGATGAATCTTCAGCAGCAGCCCAAGAAAGAGCTGATTATTAATGAG
ATCCTGGTCATGAGGGAAAACAAGAACCCAAACATTGTGAATTACTTGGACAGTTACCTCGTGGGAGATGAGCTGTGGGTTGTTATGGAATACTTGGCTGGAGGC
TCCTTGACAGATGTGGTGACAGAAACTTGCATGGATGAAGGCCAAATTGCAGCTGTGTGCCGTGAGTGTCTGCAGGCTCTGGAGTTCTTGCATTCGAACCAGGTC
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>PAK1|5058|protein
MSNNGLDIQDKPPAPPMRNTSTMIGAGSKDAGTLNHGSKPLPPNPEEKKKKDRFYRSILPGDKTNKKKEKERPEISLPSDFEHTIHVGFDAVTGEFTGMPEQWAR
LLQTSNITKSEQKKNPQAVLDVLEFYNSKKTSNSQKYMSFTDKSAEDYNSSNALNVKAVSETPAVPPVSEDEDDDDDDATPPPVIAPRPEHTKSVYTRSVIEPLP
VTPTRDVATSPISPTENNTTPPDALTRNTEKQKKKPKMSDEEILEKLRSIVSVGDPKKKYTRFEKIGQGASGTVYTAMDVATGQEVAIKQMNLQQQPKKELIINE
ILVMRENKNPNIVNYLDSYLVGDELWVVMEYLAGGSLTDVVTETCMDEGQIAAVCRECLQALEFLHSNQVIHRDIKSDNILLGMDGSVKLTDFGFCAQITPEQSK
RSTMVGTPYWMAPEVVTRKAYGPKVDIWSLGIMAIEMIEGEPPYLNENPLRALYLIATNGTPELQNPEKLSAIFRDFLNRCLEMDVEKRGSAKELLQVRKLRFQV
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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) 3 (3) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top