AutismKB 2.0

Evidence Details for ARHGAP44


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Basic Information Top
Gene Symbol:ARHGAP44 ( KIAA0672,NPC-A-10,RICH2 )
Gene Full Name: Rho GTPase activating protein 44
Band: 17p12
Quick LinksEntrez ID:9912; OMIM: NA; Uniprot ID:RHG44_HUMAN; ENSEMBL ID: ENSG00000006740; HGNC ID: 29096
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGAP44|9912|nucleotide
ATGAAGAAGCAGTTCAATCGCATGCGCCAGCTGGCCAACCAGACGGTGGGCAGGGCTGAAAAGACAGAAGTTTTGAGTGAAGACCTTCTTCAGGTGGAGAAGCGT
CTGGAGCTGGTGAAACAGGTGTCCCACAGCACGCACAAGAAGCTCACCGCATGTCTGCAGGGCCAGCAAGGGGCAGAGGCTGACAAGCGCTCCAAAAAGTTGCCT
TTGACAACACTGGCTCAGTGTCTGATGGAGGGGTCAGCTATCCTGGGAGATGACACACTTCTTGGGAAGATGCTGAAACTCTGTGGAGAGACGGAGGACAAGCTG
GCTCAGGAGCTGATACATTTTGAGTTGCAAGTAGAGAGAGACGTGATTGAGCCCCTGTTTTTGCTGGCGGAGGTGGAAATCCCAAATATTCAAAAGCAGAGGAAA
CACTTAGCCAAGTTGGTGCTGGACATGGATTCCTCACGAACCAGGTGGCAGCAGACTTCCAAGTCTTCAGGTTTGTCCAGCAGCTTACAGCCTGCGGGTGCCAAG
GCTGATGCCCTCAGGGAAGAAATGGAAGAGGCTGCCAACAGAGTGGAGATTTGCAGGGACCAGCTCTCAGCTGATATGTACAGTTTTGTGGCCAAAGAAATTGAC
TATGCAAACTACTTTCAAACGCTAATAGAAGTGCAAGCTGAATACCACAGGAAGTCCCTGACACTATTGCAGGCTGTATTGCCTCAGATCAAAGCACAACAGGAG
GCCTGGGTAGAGAAGCCTTCCTTCGGGAAGCCGCTGGAGGAGCACCTCACCATCAGCGGCCGGGAGATCGCCTTCCCCATCGAGGCGTGTGTGACCATGCTGCTT
GAGTGTGGGATGCAGGAGGAGGGACTCTTCCGAGTAGCCCCCTCTGCCTCCAAACTGAAGAAGCTGAAAGCGGCCCTGGACTGCTGCGTGGTGGATGTGCAGGAG
TACTCGGCAGACCCCCACGCAATTGCAGGAGCTTTGAAATCTTACCTCCGAGAGTTGCCAGAACCTCTTATGACCTTTGAACTCTATGATGAGTGGATCCAGGCT
TCCAATGTCCAGGAGCAAGACAAGAAGCTTCAGGCTCTATGGAATGCTTGTGAAAAGTTGCCCAAGGCCAATCACAACAACATCCGATACTTGATAAAATTTTTA
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>ARHGAP44|9912|protein
MKKQFNRMRQLANQTVGRAEKTEVLSEDLLQVEKRLELVKQVSHSTHKKLTACLQGQQGAEADKRSKKLPLTTLAQCLMEGSAILGDDTLLGKMLKLCGETEDKL
AQELIHFELQVERDVIEPLFLLAEVEIPNIQKQRKHLAKLVLDMDSSRTRWQQTSKSSGLSSSLQPAGAKADALREEMEEAANRVEICRDQLSADMYSFVAKEID
YANYFQTLIEVQAEYHRKSLTLLQAVLPQIKAQQEAWVEKPSFGKPLEEHLTISGREIAFPIEACVTMLLECGMQEEGLFRVAPSASKLKKLKAALDCCVVDVQE
YSADPHAIAGALKSYLRELPEPLMTFELYDEWIQASNVQEQDKKLQALWNACEKLPKANHNNIRYLIKFLSKLSEYQDVNKMTPSNMAIVLGPNLLWPQAEGNIT
EMMTTVSLQIVGIIEPIIQHADWFFPGEIEFNITGNYGSPVHVNHNANYSSMPSPDMDPADRRQPEQARRPLSVATDNMMLEFYKKDGLRKIQSMGVRVMDTNWV
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (3)
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
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top