AutismKB 2.0

Evidence Details for RALGAPA2


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Basic Information Top
Gene Symbol:RALGAPA2 ( AS250,C20orf74,FLJ12819,KIAA1272,bA287B20.1,dJ1049G11,dJ1049G11.4 )
Gene Full Name: Ral GTPase activating protein, alpha subunit 2 (catalytic)
Band: 20p11.23
Quick LinksEntrez ID:57186; OMIM: NA; Uniprot ID:RGPA2_HUMAN; ENSEMBL ID: ENSG00000188559; HGNC ID: 16207
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RALGAPA2|57186|nucleotide
ATGTTCTCCCGAAGGAGCCACGGGGATGTGAAGAAGTCCACCCAGAAGGTGCTGGACCCGAAGAAGGACGTGCTGACCCGCCTGAAGCACCTGCGGGCGCTGCTG
GATAATGTGGATGCAAATGATCTTAAGCAGTTTTTTGAGACCAACTATTCTCAGATATATTTCATCTTCTATGAAAATTTTATAGCACTGGAAAATAGTTTGAAA
TTAAAAGGGAATAATAAGTCACAAAGGGAGGAGCTGGACTCCATCCTCTTCCTTTTTGAAAAAATACTGCAGTTTCTACCTGAACGAATTTTCTTTCGATGGCAT
TACCAGAGTATAGGCTCAACTTTAAAGAAGCTTCTACACACTGGAAATTCTATTAAGATAAGATGTGAAGGAATCAGGCTGTTTCTTCTGTGGCTTCAAGCACTT
CAGACAAACTGTGCAGAAGAGCAGGTTCTGATTTTTGCTTGCCTGGTGCCTGGTTTCCCAGCAGTCATGTCATCCAGGGGCCCTTGCACACTGGAGACACTCATC
AATCCCAGCCCTAGTGTAGCTGATGTAAAGATATATCCAGAAGAAATCACTCCACTCCTACCAGCCATATCAGGGGAGAAGATTGCTGAGGACCAAACCTGCTTT
TTTCTTCAAATACTGTTGAAGTATATGGTTATTCAGGCTGCGAGCTTGGAGTGGAAGAATAAGGAGAATCAAGATACTGGTTTTAAATTTCTTTTTACATTGTTT
CGAAAGTATTATCTTCCTCATTTATTTCCATCATTTACTAAGTTAACAAACATCTACAAACCTGTACTTGACATCCCCCATTTGAGACCAAAGCCTGTGTACATT
ACTACCACTCGAGACAATGAGAACATTTACAGTACAAAGATTCCATATATGGCAGCTCGTGTTGTTTTTATTAAGTGGATTGTAACCTTCTTTTTGGAAAAAAAG
TATCTAACTGCAACACAAAACACTAAAAATGGAGTTGATGTATTGCCTAAAATCATCCAGACTGTTGGTGGTGGTGCTGTGCAGGAGAGAGCGCCTGAGCTGGAT
GGTGGTGGGCCCACGGAGCAGGACAAAAGCCATTCTAACAGCAGCACCTTGTCGGACCGAAGACTCAGCAACTCCAGCCTCTGTAGCATTGAAGAAGAGCACCGA
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>RALGAPA2|57186|protein
MFSRRSHGDVKKSTQKVLDPKKDVLTRLKHLRALLDNVDANDLKQFFETNYSQIYFIFYENFIALENSLKLKGNNKSQREELDSILFLFEKILQFLPERIFFRWH
YQSIGSTLKKLLHTGNSIKIRCEGIRLFLLWLQALQTNCAEEQVLIFACLVPGFPAVMSSRGPCTLETLINPSPSVADVKIYPEEITPLLPAISGEKIAEDQTCF
FLQILLKYMVIQAASLEWKNKENQDTGFKFLFTLFRKYYLPHLFPSFTKLTNIYKPVLDIPHLRPKPVYITTTRDNENIYSTKIPYMAARVVFIKWIVTFFLEKK
YLTATQNTKNGVDVLPKIIQTVGGGAVQERAPELDGGGPTEQDKSHSNSSTLSDRRLSNSSLCSIEEEHRMVYEMVQRILLSTRGYVNFVNEVFHQAFLLPSCEI
AVTRKVVQVYRKWILQDKPVFMEEPDRKDVAQEDAEKLGFSETDSKEASSESSGHKRSSSWGRTYSFTSAMSRGCVTEEENTNVKAGVQALLQVFLTNSANIFLL
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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 (0) 0 (0) 0 (1) 0 (0) 2 (2)
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
Soueid J, 2016 Lebanese -autistic 35 33 2 - 41 37 78
Linkage Studies Top