AutismKB 2.0

Evidence Details for RAPGEF6


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Basic Information Top
Gene Symbol:RAPGEF6 ( DKFZp667N084,DKFZp686I15116,KIA001LB,PDZ-GEF2,PDZGEF2,RA-GEF-2,RAGEF2 )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 6
Band: 5q31.1
Quick LinksEntrez ID:51735; OMIM: 610499; Uniprot ID:RPGF6_HUMAN; ENSEMBL ID: ENSG00000158987,ENSG00000217128; HGNC ID: 20655
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RAPGEF6|51735|nucleotide
ATGAACTCACCCGTGGACCCTGGCGCTAGGCAGGCGTTGAGGAAGAAGCCACCCGAGCGGACTCCCGAGGACTTAAATACTATTTATTCTTATCTTCATGGAATG
GAAATATTATCAAATCTCAGGGAACATCAGCTTAGATTAATGTCTGCAAGAGCACGCTATGAGAGATACAGTGGCAATCAGGTTCTCTTTTGTTCAGAAACGATT
GCCAGATGTTGGTATATCCTACTTTCTGGATCTGTGCTTGTGAAAGGCTCCATGGTCTTGCCTCCTTGCAGTTTTGGTAAGCAGTTTGGAGGAAAAAGAGGATGT
GATTGTCTTGTATTAGAGCCTTCAGAAATGATTGTGGTAGAGAATGCCAAAGATAATGAAGATAGTATTCTACAAAGAGAAATTCCTGCCAGACAATCCCGAAGA
AGATTTCGGAAAATTAACTATAAAGGAGAGCGCCAAACCATTACTGATGATGTGGAGGTTAACAGCTATCTTTCTCTTCCAGCTGATCTTACCAAGATGCATCTC
ACAGAAAACCCTCATCCACAGGTGACTCATGTGTCTTCTAGTCAGTCTGGTTGTAGCATTGCCAGTGACTCTGGAAGCAGCAGTTTATCTGATATCTATCAGGCT
ACGGAGAGTGAGGTAGGAGATGTAGATTTGACACGTCTTCCAGAAGGACCTGTTGATTCTGAGGATGACGAAGAGGAAGATGAAGAGATTGATCGAACAGATCCA
TTGCAGGGGCGAGATCTTGTTCGAGAATGTCTTGAAAAAGAACCTGCAGACAAAACTGATGATGACATTGAACAATTGCTGGAGTTTATGCACCAGCTCCCTGCA
TTTGCAAACATGACCATGTCTGTAAGGAGAGAACTCTGCTCAGTGATGATTTTTGAAGTGGTAGAGCAGGCTGGAGCTATTATTCTTGAAGATGGGCAAGAGCTT
GACTCATGGTATGTTATTTTAAACGGCACTGTGGAAATCAGTCATCCAGATGGAAAAGTTGAAAATTTGTTTATGGGAAATAGTTTTGGAATTACTCCCACTCTG
GATAAGCAGTACATGCATGGAATTGTCAGGACTAAAGTAGATGATTGTCAGTTTGTCTGCATAGCCCAGCAAGATTATTGGAGAATTTTAAACCATGTGGAAAAA
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>RAPGEF6|51735|protein
MNSPVDPGARQALRKKPPERTPEDLNTIYSYLHGMEILSNLREHQLRLMSARARYERYSGNQVLFCSETIARCWYILLSGSVLVKGSMVLPPCSFGKQFGGKRGC
DCLVLEPSEMIVVENAKDNEDSILQREIPARQSRRRFRKINYKGERQTITDDVEVNSYLSLPADLTKMHLTENPHPQVTHVSSSQSGCSIASDSGSSSLSDIYQA
TESEVGDVDLTRLPEGPVDSEDDEEEDEEIDRTDPLQGRDLVRECLEKEPADKTDDDIEQLLEFMHQLPAFANMTMSVRRELCSVMIFEVVEQAGAIILEDGQEL
DSWYVILNGTVEISHPDGKVENLFMGNSFGITPTLDKQYMHGIVRTKVDDCQFVCIAQQDYWRILNHVEKNTHKVEEEGEIVMVHEHRELDRSGTRKGHIVIKAT
PERLIMHLIEEHSIVDPTYIEDFLLTYRTFLESPLDVGIKLLEWFKIDSLRDKVTRIVLLWVNNHFNDFEGDPAMTRFLEEFEKNLEDTKMNGHLRLLNIACAAK
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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top