AutismKB 2.0

Evidence Details for SRGAP1


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Basic Information Top
Gene Symbol:SRGAP1 ( ARHGAP13,FLJ22166,KIAA1304 )
Gene Full Name: SLIT-ROBO Rho GTPase activating protein 1
Band: 12q14.2
Quick LinksEntrez ID:57522; OMIM: 606523; Uniprot ID:SRGP1_HUMAN; ENSEMBL ID: ENSG00000196935; HGNC ID: 17382
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SRGAP1|57522|nucleotide
ATGTCCACCCCGAGCCGATTCAAGAAGGACAAAGAGATCATAGCCGAGTATGAAAGTCAAGTCAAAGAAATTCGAGCTCAACTGGTAGAACAACAAAAATGCCTG
GAGCAGCAAACGGAGATGCGAGTTCAGCTTCTCCAGGATCTGCAAGATTTCTTCCGAAAAAAAGCTGAAATTGAGACGGAATATTCCCGGAATCTAGAGAAGTTA
GCAGAAAGGTTCATGGCAAAAACAAGAAGCACTAAGGATCATCAACAATACAAGAAAGACCAGAACCTGTTGTCTCCAGTGAACTGCTGGTATTTGCTCCTGAAC
CAAGTAAGGAGAGAAAGCAAAGACCATGCAACCTTGAGTGACATCTATCTGAACAATGTGATTATGCGGTTCATGCAGATAAGTGAGGATTCTACCAGGATGTTT
AAAAAGAGCAAAGAGATTGCATTCCAACTTCATGAGGATTTAATGAAGGTTCTTAATGAGCTTTATACGGTGATGAAAACATACCATATGTATCATGCAGAGAGC
ATCAGTGCAGAGAGCAAGCTGAAAGAGGCCGAAAAACAAGAGGAAAAGCAAATTGGGAGATCTGGTGATCCAGTCTTCCATATTCGACTAGAGGAGAGACATCAA
CGGCGAAGCTCTGTAAAGAAAATTGAAAAAATGAAAGAAAAAAGACAAGCAAAATATTCAGAAAATAAGCTAAAATCAATTAAGGCACGGAACGAATATCTCCTA
ACACTTGAAGCCACCAATGCCTCAGTTTTCAAGTACTATATTCATGATCTTTCTGATTTAATTGATTGCTGTGATCTTGGCTACCATGCAAGTCTGAACAGAGCC
CTAAGAACATATCTGTCTGCGGAGTACAACCTTGAAACCTCCAGACATGAGGGCTTAGACATTATTGAGAATGCAGTTGATAATTTAGAGCCCAGGAGCGATAAG
CAGAGATTCATGGAGATGTACCCTGCTGCGTTCTGTCCACCAATGAAGTTTGAGTTTCAGTCTCACATGGGTGATGAGGTGTGCCAGGTCAGTGCCCAGCAGCCA
GTCCAGGCAGAGCTCATGCTCAGGTACCAACAGTTGCAGTCCCGCCTTGCCACGCTCAAAATCGAGAATGAAGAGGTTAAGAAAACGACTGAAGCCACCTTGCAG
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>SRGAP1|57522|protein
MSTPSRFKKDKEIIAEYESQVKEIRAQLVEQQKCLEQQTEMRVQLLQDLQDFFRKKAEIETEYSRNLEKLAERFMAKTRSTKDHQQYKKDQNLLSPVNCWYLLLN
QVRRESKDHATLSDIYLNNVIMRFMQISEDSTRMFKKSKEIAFQLHEDLMKVLNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQIGRSGDPVFHIRLEERHQ
RRSSVKKIEKMKEKRQAKYSENKLKSIKARNEYLLTLEATNASVFKYYIHDLSDLIDCCDLGYHASLNRALRTYLSAEYNLETSRHEGLDIIENAVDNLEPRSDK
QRFMEMYPAAFCPPMKFEFQSHMGDEVCQVSAQQPVQAELMLRYQQLQSRLATLKIENEEVKKTTEATLQTIQDMVTIEDYDVSECFQHSRSTESVKSTVSETYL
SKPSIAKRRANQQETEQFYFMKLREYLEGSNLITKLQAKHDLLQRTLGEGHRAEYMTTRPPNVPPKPQKHRKSRPRSQYNTKLFNGDLETFVKDSGQVIPLIVES
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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) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (3)
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