AutismKB 2.0

Evidence Details for ABLIM2


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Basic Information Top
Gene Symbol:ABLIM2 ( DKFZp761F129,FLJ26534,FLJ39684,KIAA1808,MGC141918 )
Gene Full Name: actin binding LIM protein family, member 2
Band: 4p16.1
Quick LinksEntrez ID:84448; OMIM: 612544; Uniprot ID:ABLM2_HUMAN; ENSEMBL ID: ENSG00000163995; HGNC ID: 19195
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ABLIM2|84448|nucleotide
ATGAGTGCAGTGTCGCAGCCCCAGGCTGCTCCCAGCCCGCTGGAGAAGTCGCCCAGCACGGCGATCCTGTGCAACACGTGTGGGAATGTGTGCAAGGGCGAGGTG
CTGCGGGTGCAGGACAAGTACTTCCACATCAAGTGCTTCGTCTGTAAAGCATGTGGCTGCGACCTGGCCGAGGGCGGCTTCTTCGTGCGGCAGGGCGAGTACATC
TGCACGCTGGACTACCAGAGGCTCTACGGCACCCGCTGCTTCAGCTGCGACCAGTTCATTGAGGGTGAGGTGGTGTCGGCGCTGGGCAAGACCTACCACCCCGAC
TGCTTCGTGTGTGCCGTCTGCCGGCTGCCCTTCCCCCCCGGGGACCGAGTGACCTTCAACGGGAAGGAATGCATGTGCCAGAAGTGTTCCCTGCCCGTATCGGTG
GGCAGCAGCGCGCACCTGTCCCAGGGCCTCCGAAGTTGTGGGGGCTGCGGCACAGAAATCAAGAATGGCCAGGCCCTGGTAGCCTTGGACAAGCACTGGCACTTG
GGCTGTTTTAAGTGCAAGAGCTGTGGGAAGCTCCTGAATGCCGAGTACATCAGCAAGGATGGGCTGCCCTACTGCGAAGCTGACTATCACGCCAAGTTCGGCATC
CGCTGTGACAGCTGTGAGAAATACATCACGGGGCGCGTGCTGGAGGCCGGAGAGAAGCACTACCACCCTTCCTGCGCGCTATGTGTCAGGTGCGGCCAGATGTTT
GCAGAAGGCGAAGAGATGTATCTTCAAGGTTCCTCCATCTGGCATCCGGCGTGTCGACAAGCAGCCAGAACTGAAGACAGAAACAAGGAAACCAGAACTTCCTCA
GAGAGCATCATTTCTGTCCCTGCTTCCAGCACCTCAGGGTCTCCGAGCCGTGTGATTTATGCCAAGCTTGGTGGTGAGATCCTGGACTACAGGGACTTGGCAGCC
CTTCCTAAAAGTAAGGCCATCTATGACATCGACCGCCCCGACATGATCTCCTACTCACCCTACATCAGCCACTCTGCAGGGGACAGGCAGAGCTACGGCGAGGGG
GATCAGGATGACCGGTCCTACAAGCAGTGTCGGACCTCCAGCCCAAGCTCCACTGGGTCGGTTAGCCTCGGGCGCTACACTCCGACCTCACGGTCACCACAGCAC
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>ABLIM2|84448|protein
MSAVSQPQAAPSPLEKSPSTAILCNTCGNVCKGEVLRVQDKYFHIKCFVCKACGCDLAEGGFFVRQGEYICTLDYQRLYGTRCFSCDQFIEGEVVSALGKTYHPD
CFVCAVCRLPFPPGDRVTFNGKECMCQKCSLPVSVGSSAHLSQGLRSCGGCGTEIKNGQALVALDKHWHLGCFKCKSCGKLLNAEYISKDGLPYCEADYHAKFGI
RCDSCEKYITGRVLEAGEKHYHPSCALCVRCGQMFAEGEEMYLQGSSIWHPACRQAARTEDRNKETRTSSESIISVPASSTSGSPSRVIYAKLGGEILDYRDLAA
LPKSKAIYDIDRPDMISYSPYISHSAGDRQSYGEGDQDDRSYKQCRTSSPSSTGSVSLGRYTPTSRSPQHYSRPAGTVSVGTSSCLSLSQHPSPTSVFRHHYIPY
FRGSESGRSTPSLSVLSDSKPPPSTYQQAPRHFHVPDTGVKDNIYRKPPIYRQHAARRSDGEDGSLDQDNRKQKSSWLMLKGDADTRTNSPDLDTQSLSHSSGTD
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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 (2) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top