AutismKB 2.0

Evidence Details for RAN


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Basic Information Top
Gene Symbol:RAN ( ARA24,Gsp1,TC4 )
Gene Full Name: RAN, member RAS oncogene family
Band: 12q24.33
Quick LinksEntrez ID:5901; OMIM: 601179; Uniprot ID:RAN_HUMAN; ENSEMBL ID: ENSG00000132341; HGNC ID: 9846
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RAN|5901|nucleotide
ATGGCTGCGCAGGGAGAGCCCCAGGTCCAGTTCAAACTTGTATTGGTTGGTGATGGTGGTACTGGAAAAACGACCTTCGTGAAACGTCATTTGACTGGTGAATTT
GAGAAGAAGTATGTAGCCACCTTGGGTGTTGAGGTTCATCCCCTAGTGTTCCACACCAACAGAGGACCTATTAAGTTCAATGTATGGGACACAGCCGGCCAGGAG
AAATTCGGTGGACTGAGAGATGGCTATTATATCCAAGCCCAGTGTGCCATCATAATGTTTGATGTAACATCGAGAGTTACTTACAAGAATGTGCCTAACTGGCAT
AGAGATCTGGTACGAGTGTGTGAAAACATCCCCATTGTGTTGTGTGGCAACAAAGTGGATATTAAGGACAGGAAAGTGAAGGCGAAATCCATTGTCTTCCACCGA
AAGAAGAATCTTCAGTACTACGACATTTCTGCCAAAAGTAACTACAACTTTGAAAAGCCCTTCCTCTGGCTTGCTAGGAAGCTCATTGGAGACCCTAACTTGGAA
TTTGTTGCCATGCCTGCTCTCGCCCCACCAGAAGTTGTCATGGACCCAGCTTTGGCAGCACAGTATGAGCACGACTTAGAGGTTGCTCAGACAACTGCTCTCCCG
GATGAGGATGATGACCTGTGA




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>RAN|5901|protein
MAAQGEPQVQFKLVLVGDGGTGKTTFVKRHLTGEFEKKYVATLGVEVHPLVFHTNRGPIKFNVWDTAGQEKFGGLRDGYYIQAQCAIIMFDVTSRVTYKNVPNWH
RDLVRVCENIPIVLCGNKVDIKDRKVKAKSIVFHRKKNLQYYDISAKSNYNFEKPFLWLARKLIGDPNLEFVAMPALAPPEVVMDPALAAQYEHDLEVAQTTALP
DEDDDL


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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 (4) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top