AutismKB 2.0

Evidence Details for RASGEF1B


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Basic Information Top
Gene Symbol:RASGEF1B ( FLJ31695,GPIG4,MGC46251 )
Gene Full Name: RasGEF domain family, member 1B
Band: 4q21.21
Quick LinksEntrez ID:153020; OMIM: NA; Uniprot ID:RGF1B_HUMAN; ENSEMBL ID: ENSG00000138670; HGNC ID: 24881
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RASGEF1B|153020|nucleotide
ATGCCTCAGACTCCTCCCTTTTCAGCAATGTTTGACAGCAGTGGTTACAATCGAAACCTCTATCAGTCTGCAGAGGACAGCTGTGGAGGGTTGTATTACCATGAC
AACAACCTCCTCTCTGGATCCCTGGAAGCACTCATCCAGCACTTAGTACCTAATGTGGATTACTATCCAGATAGAACATACATATTTACCTTCCTACTCAGTTCT
CGGTTATTTATGCATCCGTATGAGCTAATGGCCAAAGTTTGCCACTTATGTGTTGAGCACCAGAGACTAAGTGATCCTGATAGTGATAAGAACCAGATGAGAAAA
ATTGCACCCAAAATCCTTCAACTCCTCACGGAATGGACGGAAACATTTCCCTATGATTTTCGGGATGAAAGAATGATGAGAAACTTAAAAGATCTGGCTCACCGA
ATAGCCAGTGGCGAAGAGCAGACATACAGAAAGAATGTCCAGCAAATGATGCAGTGTCTGATCCGCAAGCTTGCTGCGCTCAGCCAGTACGAAGAAGTCCTGGCA
AAAATCAGCTCCACATCCACAGATCGGCTCACAGTTCTCAAGACCAAGCCACAGTCTATACAAAGGGATATCATTACTGTCTGCAACGACCCTTACACGTTGGCC
CAGCAGCTGACTCATATAGAGCTGGAGAGGCTCAATTATATTGGGCCAGAAGAATTTGTTCAGGCGTTCGTGCAGAAGGACCCTTTGGATAATGACAAGAGTTGC
TACAGTGAACGGAAGAAAACACGAAACTTAGAAGCTTACGTGGAATGGTTTAATCGCCTCAGCTACTTGGTTGCTACAGAAATCTGTATGCCTGTTAAGAAAAAA
CACCGAGCAAGAATGATTGAGTATTTCATTGACGTAGCTCGGGAGTGTTTTAACATTGGCAACTTCAACTCCTTGATGGCGATAATCTCTGGTATGAATATGAGC
CCAGTCTCTCGACTAAAAAAAACTTGGGCCAAAGTGAAGACTGCAAAATTTGACATTCTTGAGCATCAGATGGACCCTTCAAGCAATTTCTATAATTATCGAACA
GCTCTTCGTGGGGCAGCACAAAGGTCTTTAACTGCTCATAGTAGTAGAGAAAAGATTGTGATACCATTCTTCAGTCTCTTAATCAAAGATATTTATTTCCTCAAT
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>RASGEF1B|153020|protein
MPQTPPFSAMFDSSGYNRNLYQSAEDSCGGLYYHDNNLLSGSLEALIQHLVPNVDYYPDRTYIFTFLLSSRLFMHPYELMAKVCHLCVEHQRLSDPDSDKNQMRK
IAPKILQLLTEWTETFPYDFRDERMMRNLKDLAHRIASGEEQTYRKNVQQMMQCLIRKLAALSQYEEVLAKISSTSTDRLTVLKTKPQSIQRDIITVCNDPYTLA
QQLTHIELERLNYIGPEEFVQAFVQKDPLDNDKSCYSERKKTRNLEAYVEWFNRLSYLVATEICMPVKKKHRARMIEYFIDVARECFNIGNFNSLMAIISGMNMS
PVSRLKKTWAKVKTAKFDILEHQMDPSSNFYNYRTALRGAAQRSLTAHSSREKIVIPFFSLLIKDIYFLNEGCANRLPNGHVNFEKFWELAKQVSEFMTWKQVEC
PFERDRKILQYLLTVPVFSEDALYLASYESEGPENHIEKDRWKSLRSSLLGRV
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top