AutismKB 2.0

Evidence Details for ABHD12B


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Basic Information Top
Gene Symbol:ABHD12B ( BEM46L3,C14orf29,MGC129926,MGC129927,c14_5314 )
Gene Full Name: abhydrolase domain containing 12B
Band: 14q22.1
Quick LinksEntrez ID:145447; OMIM: NA; Uniprot ID:AB12B_HUMAN; ENSEMBL ID: ENSG00000131969; HGNC ID: 19837
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ABHD12B|145447|nucleotide
ATGCTAGGGATCTGGCACACAGTCCCCAGCTGCCGGGGGGAAGATGCCAAGGGGAAGGACTGTTGCTGGTATGAAGCAGCCCTTCGTGATGGGAACCCAATTATT
GTTTATCTTCATGGCAGTGCAGAACACAGGGCAGCTTCGCACAGACTGAAGCTGGTAAAGGTGCTGAGTGATGGTGGCTTTCATGTCTTGTCTGTTGACTACAGA
GGATTTGGGGACTCTACAGGTAAGCCCACAGAGGAGGGACTGACTACGGATGCCATTTGTGTCTATGAGTGGACCAAGGCAAGAAGTGGCATCACTCCCGTGTGT
CTCTGGGGCCACTCTCTGGGTACAGGAGTTGCAACAAATGCTGCAAAAGTGCTAGAAGAAAAAGGATGCCCAGTTGATGCTATTGTCTTGGAAGCTCCATTTACC
AACATGTGGGTTGCAAGTATCAATTATCCCTTGTTAAAGATTTACCGGAACATTCCAGGATTTTTACGTACACTTATGGATGCCCTGAGAAAAGACAAAATAATC
TTTCCTAATGATGAAAATGTTAAATTCCTTTCTTCTCCTCTTCTCATCTTACATGGAGAGGATGACAGGACAGTGCCTTTGGAGTATGGGAAAAAGCTCTATGAA
ATTGCACGCAATGCATACAGGAACAAAGAGAGGGTCAAGATGGTTATCTTTCCTCCTGGCTTCCAACACAACCTGCTTTGTAAAAGCCCCACACTGTTAATAACC
GTGAGAGATTTCCTGAGCAAGCAGTGGTCATGA



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>ABHD12B|145447|protein
MLGIWHTVPSCRGEDAKGKDCCWYEAALRDGNPIIVYLHGSAEHRAASHRLKLVKVLSDGGFHVLSVDYRGFGDSTGKPTEEGLTTDAICVYEWTKARSGITPVC
LWGHSLGTGVATNAAKVLEEKGCPVDAIVLEAPFTNMWVASINYPLLKIYRNIPGFLRTLMDALRKDKIIFPNDENVKFLSSPLLILHGEDDRTVPLEYGKKLYE
IARNAYRNKERVKMVIFPPGFQHNLLCKSPTLLITVRDFLSKQWS


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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top