AutismKB 2.0

Evidence Details for RANGAP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RANGAP1 ( Fug1,KIAA1835,MGC20266,SD )
Gene Full Name: Ran GTPase activating protein 1
Band: 22q13.2
Quick LinksEntrez ID:5905; OMIM: 602362; Uniprot ID:RAGP1_HUMAN; ENSEMBL ID: ENSG00000100401; HGNC ID: 9854
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RANGAP1|5905|nucleotide
ATGGCCTCGGAAGACATTGCCAAGCTGGCAGAGACACTTGCCAAGACTCAGGTGGCCGGGGGACAGCTGAGTTTCAAAGGCAAGAGCCTCAAACTCAACACTGCA
GAAGATGCTAAAGATGTGATTAAAGAGATTGAAGACTTTGACAGCTTGGAGGCTCTGCGTCTGGAAGGCAACACAGTGGGCGTGGAAGCAGCCAGGGTCATCGCC
AAGGCCTTAGAGAAGAAGTCGGAGTTGAAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGATCTCACTAGGGGAA
GGACTCATCACAGCTGGGGCTCAGCTGGTGGAGCTGGACTTAAGCGACAACGCATTCGGGCCCGACGGTGTGCAAGGCTTCGAGGCCCTGCTCAAGAGCTCAGCC
TGCTTCACCCTGCAGGAACTCAAGCTCAACAACTGTGGCATGGGCATTGGCGGCGGCAAGATCCTGGCTGCAGCTCTGACCGAATGTCACCGGAAATCCAGTGCC
CAAGGCAAGCCTCTGGCCCTGAAGGTCTTTGTGGCTGGCAGAAACCGTCTGGAGAATGATGGCGCCACTGCCTTGGCAGAAGCTTTTAGGGTCATCGGGACCCTG
GAGGAGGTCCACATGCCACAGAATGGGATCAACCACCCTGGCATCACTGCCCTGGCCCAGGCTTTCGCTGTCAACCCCCTGCTGCGGGTCATCAACCTGAATGAC
AACACCTTCACTGAGAAGGGCGCCGTGGCCATGGCCGAGACCTTGAAGACCTTGCGGCAGGTGGAGGTGATTAATTTTGGGGACTGCCTGGTGCGCTCCAAGGGT
GCAGTTGCCATTGCAGATGCCATCCGCGGCGGCCTGCCCAAGCTAAAGGAGCTGAACTTGTCATTCTGTGAAATCAAGAGGGATGCTGCCCTGGCTGTTGCTGAG
GCCATGGCAGACAAAGCTGAGCTGGAGAAGCTGGACCTGAATGGCAACACCCTGGGAGAAGAAGGCTGTGAACAGCTTCAGGAGGTGCTGGAGGGCTTCAACATG
GCCAAGGTGCTGGCGTCCCTCAGTGATGACGAGGACGAGGAGGAGGAGGAGGAAGGAGAAGAGGAAGAAGAGGAAGCAGAAGAAGAGGAGGAGGAAGATGAGGAA
Show »

>RANGAP1|5905|protein
MASEDIAKLAETLAKTQVAGGQLSFKGKSLKLNTAEDAKDVIKEIEDFDSLEALRLEGNTVGVEAARVIAKALEKKSELKRCHWSDMFTGRLRTEIPPALISLGE
GLITAGAQLVELDLSDNAFGPDGVQGFEALLKSSACFTLQELKLNNCGMGIGGGKILAAALTECHRKSSAQGKPLALKVFVAGRNRLENDGATALAEAFRVIGTL
EEVHMPQNGINHPGITALAQAFAVNPLLRVINLNDNTFTEKGAVAMAETLKTLRQVEVINFGDCLVRSKGAVAIADAIRGGLPKLKELNLSFCEIKRDAALAVAE
AMADKAELEKLDLNGNTLGEEGCEQLQEVLEGFNMAKVLASLSDDEDEEEEEEGEEEEEEAEEEEEEDEEEEEEEEEEEEEEPQQRGQGEKSATPSRKILDPNTG
EPAPVLSSPPPADVSTFLAFPSPEKLLRLGPKSSVLIAQQTDTSDPEKVVSAFLKVSSVFKDEATVRMAVQDAVDALMQKAFNSSSFNSNTFLTRLLVHMGLLKS
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (3) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (4)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top