AutismKB 2.0

Evidence Details for RAPGEF4


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Basic Information Top
Gene Symbol:RAPGEF4 ( CAMP-GEFII,CGEF2,EPAC2,Nbla00496 )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 4
Band: 2q31.1
Quick LinksEntrez ID:11069; OMIM: 606058; Uniprot ID:RPGF4_HUMAN; ENSEMBL ID: ENSG00000091428; HGNC ID: 16626
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RAPGEF4|11069|nucleotide
ATGCTCTACAAGAAATATCGACAGTATATGGCAGGACTTCTGGCTCCTCCTTATGGTGTTATGGAAACGGGCTCTAACAATGACAGGATTCCTGACAAGGAGAAC
ACACCTCTCATTGAACCTCACGTTCCTCTTCGTCCTGCTAACACCATTACCAAGGTCCCTTCAGAGAAGATCCTCAGAGCTGGAAAAATTTTACGAAATGCCATT
CTCTCTCGAGCACCTCACATGATAAGAGATAGAAAATACCACCTAAAGACATACAGACAATGCTGTGTGGGAACTGAACTGGTGGACTGGATGATGCAGCAGACA
CCATGTGTTCACTCCCGGACTCAAGCTGTTGGCATGTGGCAAGTCCTGTTAGAAGATGGTGTTCTCAACCACGTGGACCAGGAGCACCATTTCCAAGACAAATAT
TTATTCTATCGATTTCTGGATGATGAGCACGAGGATGCCCCTTTGCCTACTGAGGAGGAGAAGAAGGAGTGTGATGAGGAGCTCCAGGACACCATGCTGCTGCTG
TCACAGATGGGCCCCGACGCCCACATGAGGATGATCCTTCGCAAACCACCTGGCCAGAGGACTGTGGATGACCTAGAGATTATCTATGAGGAGCTTCTTCATATT
AAAGCCTTATCCCATCTTTCTACCACAGTGAAACGAGAGTTAGCAGGTGTTCTCATTTTTGAGTCTCACGCCAAAGGAGGGACTGTGTTGTTTAACCAGGGGGAA
GAAGGTACCTCCTGGTACATTATTCTAAAAGGATCAGTGAATGTAGTCATTTACGGCAAGGGTGTGGTCTGCACCCTGCATGAAGGAGATGACTTCGGCAAGTTA
GCACTAGTGAATGATGCCCCACGAGCTGCCTCTATCGTCTTACGAGAAGATAACTGCCATTTCTTAAGAGTAGACAAGGAGGATTTCAACCGGATCCTAAGGGAC
GTGGAGGCGAATACAGTCAGACTTAAAGAACATGACCAAGATGTCTTGGTGCTGGAGAAGGTCCCAGCAGGGAACAGAGCTTCTAATCAAGGAAACTCACAGCCT
CAGCAAAAGTATACTGTGATGTCAGGAACACCTGAAAAAATTTTAGAGCATTTTCTAGAAACAATACGCCTTGAGGCAACTTTAAATGAAGCAACAGATTCTGTT
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>RAPGEF4|11069|protein
MLYKKYRQYMAGLLAPPYGVMETGSNNDRIPDKENTPLIEPHVPLRPANTITKVPSEKILRAGKILRNAILSRAPHMIRDRKYHLKTYRQCCVGTELVDWMMQQT
PCVHSRTQAVGMWQVLLEDGVLNHVDQEHHFQDKYLFYRFLDDEHEDAPLPTEEEKKECDEELQDTMLLLSQMGPDAHMRMILRKPPGQRTVDDLEIIYEELLHI
KALSHLSTTVKRELAGVLIFESHAKGGTVLFNQGEEGTSWYIILKGSVNVVIYGKGVVCTLHEGDDFGKLALVNDAPRAASIVLREDNCHFLRVDKEDFNRILRD
VEANTVRLKEHDQDVLVLEKVPAGNRASNQGNSQPQQKYTVMSGTPEKILEHFLETIRLEATLNEATDSVLNDFIMMHCVFMPNTQLCPALVAHYHAQPSQGTEQ
EKMDYALNNKRRVIRLVLQWAAMYGDLLQEDDVSMAFLEEFYVSVSDDARMIAALKEQLPELEKIVKQISEDAKAPQKKHKVLLQQFNTGDERAQKRQPIRGSDE
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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) 2 (4) 1 (2) 0 (0) 0 (1) 0 (1) 0 (0) 2 (2) 26 (10)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top