AutismKB 2.0

Evidence Details for ARHGEF3


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Basic Information Top
Gene Symbol:ARHGEF3 ( DKFZp434F2429,FLJ98126,GEF3,MGC118905,STA3,XPLN )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 3
Band: 3p14.3
Quick LinksEntrez ID:50650; OMIM: 612115; Uniprot ID:ARHG3_HUMAN; ENSEMBL ID: ENSG00000163947; HGNC ID: 683
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGEF3|50650|nucleotide
ATGGACAGTTCCACAGCAATGAATCAATGCAGCTGTAGAGGAATGGAAGAAAACAAGGAAAGGCCTAAACGGCAGCGGCAAAACAACTTTCCCATGTTTCCCTCT
CCTAAAGCCTGGAATTTCAGAGGGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGAGCCTAGTAATAAACGG
GTCAAACCCCTTTCCCGAGTCACGTCGCTAGCAAACCTCATCCCGCCCGTGAAGGCCACGCCATTAAAGCGCTTCAGTCAAACCCTGCAGCGCTCCATTAGCTTC
CGCAGTGAGAGCCGCCCTGACATCCTCGCCCCCCGACCCTGGTCCAGAAATGCCGCCCCCTCGAGCACGAAACGGAGAGATAGCAAGCTGTGGAGTGAGACCTTC
GATGTGTGCGTCAATCAGATGCTTACATCCAAGGAAATCAAACGTCAGGAGGCGATCTTTGAGCTTTCCCAAGGAGAAGAAGACTTGATAGAAGACTTGAAATTA
GCAAAAAAGGCCTATCATGACCCCATGCTGAAACTCTCCATAATGACAGAACAAGAGTTGAATCAAATTTTTGGAACACTGGACTCTCTAATTCCTCTACATGAA
GAGCTCCTTAGTCAGCTTCGAGATGTTAGGAAGCCTGATGGCTCGACTGAACATGTTGGTCCCATCCTCGTGGGCTGGCTCCCTTGCCTCAGCTCCTATGATAGC
TACTGCAGCAATCAAGTAGCCGCCAAAGCTCTGCTGGACCACAAAAAGCAAGATCACCGAGTCCAGGATTTCCTACAGCGATGTTTAGAATCCCCCTTTAGCCGC
AAACTAGATCTCTGGAATTTCCTCGATATTCCAAGAAGCCGCCTGGTAAAATACCCTCTGCTTCTCCGAGAAATCTTGAGGCACACACCAAATGATAATCCAGAT
CAGCAGCACTTGGAAGAAGCTATAAATATCATTCAGGGAATTGTGGCAGAAATCAACACCAAGACTGGTGAATCTGAATGCCGCTATTATAAAGAGCGGCTTCTT
TACTTGGAAGAAGGCCAGAAAGACTCCCTGATCGACAGCTCTCGAGTCTTGTGTTGTCATGGTGAACTGAAGAACAATCGGGGCGTGAAACTGCATGTTTTCCTG
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>ARHGEF3|50650|protein
MDSSTAMNQCSCRGMEENKERPKRQRQNNFPMFPSPKAWNFRGRKRKQSTQDEDAVSLCSLDISEPSNKRVKPLSRVTSLANLIPPVKATPLKRFSQTLQRSISF
RSESRPDILAPRPWSRNAAPSSTKRRDSKLWSETFDVCVNQMLTSKEIKRQEAIFELSQGEEDLIEDLKLAKKAYHDPMLKLSIMTEQELNQIFGTLDSLIPLHE
ELLSQLRDVRKPDGSTEHVGPILVGWLPCLSSYDSYCSNQVAAKALLDHKKQDHRVQDFLQRCLESPFSRKLDLWNFLDIPRSRLVKYPLLLREILRHTPNDNPD
QQHLEEAINIIQGIVAEINTKTGESECRYYKERLLYLEEGQKDSLIDSSRVLCCHGELKNNRGVKLHVFLFQEVLVITRAVTHNEQLCYQLYRQPIPVKDLLLED
LQDGEVRLGGSLRGAFSNNERIKNFFRVSFKNGSQSQTHSLQANDTFNKQQWLNCIRQAKETVLCAAGQAGVLDSEGSFLNPTTGSRELQGETKLEQMDQSDSES
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top