AutismKB 2.0

Evidence Details for ARHGAP30


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Basic Information Top
Gene Symbol:ARHGAP30 ( FLJ00267,FLJ44128 )
Gene Full Name: Rho GTPase activating protein 30
Band: 1q23.3
Quick LinksEntrez ID:257106; OMIM: NA; Uniprot ID:RHG30_HUMAN; ENSEMBL ID: ENSG00000186517; HGNC ID: 27414
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGAP30|257106|nucleotide
ATGAAGTCTCGGCAGAAAGGAAAGAAGAAGGGCAGCGCAAAGGAGCGGGTTTTTGGGTGCGACTTGCAGGAGCACCTGCAGCACTCAGGCCAGGAGGTGCCCCAG
GTGCTAAAGAGCTGTGCAGAATTTGTGGAGGAGTATGGAGTGGTGGATGGGATCTACCGCCTCTCAGGGGTCTCCTCCAACATCCAGAAGCTTCGGCAGGAATTT
GAGTCAGAGCGGAAGCCAGACCTGCGTCGGGATGTTTACCTCCAAGACATTCACTGCGTCTCCTCCCTGTGCAAGGCCTATTTCAGAGAACTGCCGGATCCCCTG
CTCACTTACCGGCTCTATGACAAGTTTGCTGAGGCTGTAGGAGTGCAATTGGAACCTGAGCGCTTGGTCAAGATCCTAGAGGTGCTTCGGGAACTCCCTGTCCCA
AACTACAGGACCCTGGAGTTCCTCATGAGGCACTTGGTACACATGGCCTCATTCAGTGCCCAGACCAACATGCATGCTCGCAACCTGGCCATCGTGTGGGCTCCC
AACCTGCTGAGGTCTAAGGACATAGAGGCCTCAGGCTTCAATGGGACAGCGGCCTTCATGGAGGTGCGGGTACAATCCATCGTCGTGGAGTTCATCCTCACACAC
GTGGACCAGCTCTTTGGGGGTGCTGCCCTCTCTGGTGGTGAGGTGGAGAGTGGGTGGCGATCGCTTCCAGGGACCCGGGCATCAGGCAGCCCCGAGGACCTTATG
CCCAGGCCACTGCCTTATCACCTGCCTAGCATACTGCAGGCTGGCGATGGACCCCCACAGATGCGGCCCTACCATACTATCATCGAGATTGCAGAGCACAAGAGG
AAGGGGTCTTTGAAGGTCAGGAAGTGGAGGTCTATCTTCAATTTAGGTCGCTCTGGCCATGAGACTAAGCGTAAACTTCCACGGGGGGCTGAGGACAGGGAGGAT
AAATCCAACAAGGGGACACTGCGGCCAGCCAAAAGCATGGACTCACTGAGTGCTGCAGCTGGGGCCAGTGATGAGCCAGAGGGGCTGGTGGGGCCCAGCAGCCCC
CGGCCAAGCCCATTGCTGCCTGAGAGCTTGGAGAACGATTCTATAGAGGCAGCAGAGGGTGAACAGGAGCCTGAGGCAGAAGCACTGGGTGGCACAAACTCTGAA
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>ARHGAP30|257106|protein
MKSRQKGKKKGSAKERVFGCDLQEHLQHSGQEVPQVLKSCAEFVEEYGVVDGIYRLSGVSSNIQKLRQEFESERKPDLRRDVYLQDIHCVSSLCKAYFRELPDPL
LTYRLYDKFAEAVGVQLEPERLVKILEVLRELPVPNYRTLEFLMRHLVHMASFSAQTNMHARNLAIVWAPNLLRSKDIEASGFNGTAAFMEVRVQSIVVEFILTH
VDQLFGGAALSGGEVESGWRSLPGTRASGSPEDLMPRPLPYHLPSILQAGDGPPQMRPYHTIIEIAEHKRKGSLKVRKWRSIFNLGRSGHETKRKLPRGAEDRED
KSNKGTLRPAKSMDSLSAAAGASDEPEGLVGPSSPRPSPLLPESLENDSIEAAEGEQEPEAEALGGTNSEPGTPRAGRSAIRAGGSSRAERCAGVHISDPYNVNL
PLHITSILSVPPNIISNVSLARLTRGLECPALQHRPSPASGPGPGPGLGPGPPDEKLEASPASSPLADSGPDDLAPALEDSLSQEVQDSFSFLEDSSSSEPEWVG
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top