AutismKB 2.0

Evidence Details for ARHGEF12


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Basic Information Top
Gene Symbol:ARHGEF12 ( DKFZp686O2372,KIAA0382,LARG,PRO2792 )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 12
Band: 11q23.3
Quick LinksEntrez ID:23365; OMIM: 604763; Uniprot ID:ARHGC_HUMAN; ENSEMBL ID: ENSG00000196914; HGNC ID: 14193
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGEF12|23365|nucleotide
ATGAGTGGCACACAGTCTACTATCACCGACAGGTTTCCCCTCAAAAAACCTATAAGGCATGGAAGTATTTTGAACCGAGAGTCACCAACAGATAAGAAGCAGAAA
GTTGAGCGCATTGCATCACATGATTTTGACCCCACAGGTCTTGTTCAGCGTTGCGTAATCATCCAGAAAGATGACAATGGATTTGGGCTGACGGTCAGTGGAGAC
AATCCAGTCTTCGTACAGTCTGTCAAAGAAGATGGAGCAGCCATGCGGGCTGGAGTACAGACAGGTGATCGAATCATCAAGGTGAATGGAACTCTGGTGACTCAT
TCAAATCATCTGGAGGTGGTGAAGCTAATCAAATCTGGTTCCTATGTAGCTCTCACTGTTCAGGGACGCCCACCTGGGTCGCCCCAGATTCCACTTGCCGACTCT
GAAGTAGAGCCGTCAGTCATTGGACATATGTCTCCCATCATGACATCTCCTCATTCACCTGGAGCATCTGGGAATATGGAGAGAATCACTAGTCCTGTGCTCATG
GGGGAGGAAAACAATGTGGTTCATAACCAGAAAGTAGAAATTCTGAGAAAAATGTTACAGAAAGAACAGGAACGGCTACAGTTATTGCAGGAAGATTACAACCGA
ACACCTGCCCAAAGATTGCTAAAAGAGATCCAAGAGGCCAAGAAACACATTCCTCAGCTGCAAGAGCAGTTATCCAAAGCCACAGGCTCTGCTCAGGATGGAGCT
GTAGTTACACCCTCCAGACCTTTAGGGGACACCCTAACAGTCAGTGAGGCAGAAACAGATCCTGGAGATGTACTGGGCAGGACTGACTGTAGCAGTGGAGATGCT
TCTCGGCCCAGTAGTGACAATGCAGATAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGAC
ACTCAATCACTTGTCGGAAGTCCCTCAACCCGTATAGCACCTCATATTATTGGAGCAGAAGATGATGATTTTGGTACTGAACATGAACAGATCAATGGACAGTGC
AGCTGTTTCCAGAGCATTGAATTACTAAAATCTCGCCCGGCTCATTTGGCTGTTTTCTTACACCATGTAGTTTCACAATTTGACCCTGCGACTTTGCTCTGTTAT
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>ARHGEF12|23365|protein
MSGTQSTITDRFPLKKPIRHGSILNRESPTDKKQKVERIASHDFDPTGLVQRCVIIQKDDNGFGLTVSGDNPVFVQSVKEDGAAMRAGVQTGDRIIKVNGTLVTH
SNHLEVVKLIKSGSYVALTVQGRPPGSPQIPLADSEVEPSVIGHMSPIMTSPHSPGASGNMERITSPVLMGEENNVVHNQKVEILRKMLQKEQERLQLLQEDYNR
TPAQRLLKEIQEAKKHIPQLQEQLSKATGSAQDGAVVTPSRPLGDTLTVSEAETDPGDVLGRTDCSSGDASRPSSDNADSPKSGPKERIYLEENPEKSETIQDTD
TQSLVGSPSTRIAPHIIGAEDDDFGTEHEQINGQCSCFQSIELLKSRPAHLAVFLHHVVSQFDPATLLCYLYSDLYKHTNSKETRRIFLEFHQFFLDRSAHLKVS
VPDEMSADLEKRRPELIPEDLHRHYIQTMQERVHPEVQRHLEDFRQKRSMGLTLAESELTKLDAERDKDRLTLEKERTCAEQIVAKIEEVLMTAQAVEEDKSSTM
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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 (0) 0 (0) 0 (1) 0 (0) 0 (2)
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