AutismKB 2.0

Evidence Details for RASAL1


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Basic Information Top
Gene Symbol:RASAL1 ( RASAL )
Gene Full Name: RAS protein activator like 1 (GAP1 like)
Band: 12q24.13
Quick LinksEntrez ID:8437; OMIM: 604118; Uniprot ID:RASL1_HUMAN; ENSEMBL ID: ENSG00000111344; HGNC ID: 9873
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RASAL1|8437|nucleotide
ATGGCCAAGAGCAGCTCCCTGAATGTTCGCGTGGTGGAGGGCCGCGCGCTGCCTGCCAAGGACGTGTCTGGGAGCAGCGACCCCTACTGCCTAGTGAAAGTGGAC
GACGAGGTGGTGGCCAGGACAGCTACTGTCTGGAGGAGCCTGGGCCCCTTCTGGGGGGAGGAGTACACGGTGCACCTGCCTCTGGATTTCCACCAGCTGGCCTTC
TACGTGCTGGATGAGGACACTGTCGGGCACGACGACATCATCGGCAAGATCTCGCTGAGCAGGGAGGCGATTACAGCCGACCCCCGAGGGATTGACAGCTGGATT
AACTTGAGCCGAGTGGACCCAGATGCAGAAGTGCAGGGTGAGATCTGCCTGTCAGTGCAGATGCTGGAGGATGGGCAGGGCCGCTGCCTTCGCTGCCATGTGCTT
CAGGCCAGGGACCTGGCTCCCAGAGACATCTCTGGCACATCTGACCCATTTGCACGTGTGTTTTGGGGCAGCCAGAGCTTGGAGACCTCAACCATCAAGAAGACT
CGCTTCCCGCACTGGGATGAAGTGCTGGAGCTGCGGGAGATGCCAGGTGCCCCGTCCCCACTGCGGGTGGAGCTCTGGGACTGGGACATGGTGGGCAAGAATGAC
TTCTTGGGCATGGTGGAGTTCTCTCCAAAGACCCTCCAGCAGAAGCCACCTAAAGGCTGGTTCCGCCTCCTGCCCTTTCCCAGAGCCGAGGAGGATTCTGGGGGG
AACCTGGGTGCCCTGCGAGTGAAGGTACGCCTGATTGAGGACCGCGTCCTGCCCTCCCAGTGCTACCAGCCTCTCATGGAGCTGCTCATGGAGTCTGTGCAGGGG
CCAGCAGAGGAGGACACTGCTAGCCCCTTGGCTTTGCTGGAAGAGCTGACCTTGGGGGACTGCCGCCAGGACCTTGCCACCAAGCTGGTGAAACTCTTTCTTGGC
CGGGGACTGGCTGGGCGCTTTCTGGACTATCTCACCCGGCGTGAGGTGGCTCGGACCATGGACCCCAACACCCTCTTCCGTTCTAACTCCCTGGCATCCAAGTCG
ATGGAACAGTTTATGAAGCTCGTGGGCATGCCCTACCTGCACGAGGTCCTGAAGCCTGTGATTAGCCGTGTCTTTGAGGAGAAGAAGTACATGGAGCTGGATCCC
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>RASAL1|8437|protein
MAKSSSLNVRVVEGRALPAKDVSGSSDPYCLVKVDDEVVARTATVWRSLGPFWGEEYTVHLPLDFHQLAFYVLDEDTVGHDDIIGKISLSREAITADPRGIDSWI
NLSRVDPDAEVQGEICLSVQMLEDGQGRCLRCHVLQARDLAPRDISGTSDPFARVFWGSQSLETSTIKKTRFPHWDEVLELREMPGAPSPLRVELWDWDMVGKND
FLGMVEFSPKTLQQKPPKGWFRLLPFPRAEEDSGGNLGALRVKVRLIEDRVLPSQCYQPLMELLMESVQGPAEEDTASPLALLEELTLGDCRQDLATKLVKLFLG
RGLAGRFLDYLTRREVARTMDPNTLFRSNSLASKSMEQFMKLVGMPYLHEVLKPVISRVFEEKKYMELDPCKMDLGRTRRISFKGALSEEQMRETSLGLLTGYLG
PIVDAIVGSVGRCPPAMRLAFKQLHRRVEERFPQAEHQQDVKYLAISGFLFLRFFAPAILTPKLFDLRDQHADPQTSRSLLLLAKAVQSIGNLGQQLGQGKELWM
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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 (1) 0 (0) 0 (0) 1 (1) 0 (1) 0 (1) 0 (0) 0 (0) 1 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top