AutismKB 2.0

Evidence Details for ASAH2


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Basic Information Top
Gene Symbol:ASAH2 ( BCDase,HNAC1,MGC129777,NCDase )
Gene Full Name: N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2
Band: 10q11.23
Quick LinksEntrez ID:56624; OMIM: 611202; Uniprot ID:ASAH2_HUMAN; ENSEMBL ID: ENSG00000188611; HGNC ID: 18860
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ASAH2|56624|nucleotide
ATGGCCAAACGCACCTTCTCTAACTTGGAGACATTCCTGATTTTCCTCCTTGTAATGATGAGTGCCATCACAGTGGCCCTTCTCAGCCTCTTGTTTATCACCAGT
GGGACCATTGAAAACCACAAAGATTTAGGAGGCCATTTTTTTTCAACCACCCAAAGCCCTCCAGCCACCCAGGGCTCCACAGCTGCCCAACGCTCCACAGCCACC
CAGCATTCCACAGCCACCCAGAGCTCCACAGCCACTCAAACTTCTCCAGTGCCTTTAACCCCAGAGTCTCCTCTATTTCAGAACTTCAGTGGCTACCATATTGGT
GTTGGACGAGCTGACTGCACAGGACAAGTAGCAGATATCAATTTGATGGGCTATGGCAAATCCGGCCAGAATGCACAGGGCATCCTCACCAGGCTATACAGTCGT
GCCTTCATCATGGCAGAACCTGATGGGTCCAATCGAACAGTGTTTGTCAGCATCGACATAGGCATGGTATCACAAAGGCTCAGGCTGGAGGTCCTGAACAGACTG
CAGAGTAAATATGGCTCCCTGTACAGAAGAGATAATGTCATCCTGAGTGGCACTCACACTCATTCAGGTCCTGCAGGATATTTCCAGTATACCGTGTTTGTAATT
GCCAGTGAAGGATTTAGCAATCAAACTTTTCAGCACATGGTCACTGGTATCTTGAAGAGCATTGACATAGCACACACAAATATGAAACCAGGCAAAATCTTCATC
AATAAAGGAAATGTGGATGGTGTGCAGATCAACAGAAGTCCGTATTCTTACCTTCAAAATCCGCAGTCAGAGAGAGCAAGGTATTCTTCAAATACAGACAAGGAA
ATGATAGTTTTGAAAATGGTAGATTTGAATGGAGATGACTTGGGCCTTATCAGCTGGTTTGCCATCCACCCGGTCAGCATGAACAACAGTAACCATCTTGTAAAC
AGTGACAATGTGGGCTATGCATCTTACCTGCTTGAGCAAGAGAAGAACAAAGGATATCTACCTGGACAGGGGCCATTTGTAGCAGCCTTTGCTTCATCAAACCTA
GGAGATGTGTCCCCCAACATTCTTGGACCACGTTGCATCAACACAGGAGAGTCCTGTGATAACGCCAATAGCACTTGTCCCATTGGTGGGCCTAGCATGTGCATT
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>ASAH2|56624|protein
MAKRTFSNLETFLIFLLVMMSAITVALLSLLFITSGTIENHKDLGGHFFSTTQSPPATQGSTAAQRSTATQHSTATQSSTATQTSPVPLTPESPLFQNFSGYHIG
VGRADCTGQVADINLMGYGKSGQNAQGILTRLYSRAFIMAEPDGSNRTVFVSIDIGMVSQRLRLEVLNRLQSKYGSLYRRDNVILSGTHTHSGPAGYFQYTVFVI
ASEGFSNQTFQHMVTGILKSIDIAHTNMKPGKIFINKGNVDGVQINRSPYSYLQNPQSERARYSSNTDKEMIVLKMVDLNGDDLGLISWFAIHPVSMNNSNHLVN
SDNVGYASYLLEQEKNKGYLPGQGPFVAAFASSNLGDVSPNILGPRCINTGESCDNANSTCPIGGPSMCIAKGPGQDMFDSTQIIGRAMYQRAKSKTCKPALGYS
FAAGTIDGVGGLNFTQGKTEGDPFWDTIRDQILGKPSEEIKECHKPKPILLHTGELSKPHPWHPDIVDVQIITLGSLAITAIPGEFTTMSGRRLREAVQAEFASH
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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 (4) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top