AutismKB 2.0

Evidence Details for CRTC3


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Basic Information Top
Gene Symbol:CRTC3 ( FLJ21868,TORC3 )
Gene Full Name: CREB regulated transcription coactivator 3
Band: 15q26.1
Quick LinksEntrez ID:64784; OMIM: 608986; Uniprot ID:CRTC3_HUMAN; ENSEMBL ID: ENSG00000140577; HGNC ID: 26148
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CRTC3|64784|nucleotide
ATGGCCGCCTCGCCGGGCTCGGGCAGCGCCAACCCGCGGAAGTTCAGTGAGAAGATCGCGCTGCACACGCAGAGACAGGCCGAGGAGACGCGGGCCTTCGAGCAG
CTCATGACCGACCTCACCCTGTCGCGGGTTCAATTTCAGAAGCTTCAGCAACTGCGCCTTACACAGTACCATGGAGGATCCTTACCAAATGTGAGCCAGCTGCGG
AGCAGTGCGTCAGAGTTTCAGCCGTCATTTCACCAAGCTGATAATGTTCGGGGAACCCGCCATCACGGGCTGGTGGAGAGGCCATCCAGGAACCGCTTCCACCCC
CTCCACCGAAGGTCTGGGGACAAGCCAGGGCGACAATTTGATGGTAGTGCTTTTGGAGCCAATTATTCCTCACAGCCTCTGGATGAGAGTTGGCCAAGGCAGCAG
CCTCCTTGGAAAGACGAAAAGCATCCTGGGTTCAGGCTGACATCTGCACTTAACAGGACCAATTCTGATTCTGCTCTTCACACGAGTGCTCTGAGTACCAAGCCC
CAGGACCCCTATGGAGGAGGGGGCCAGTCGGCCTGGCCTGCCCCATACATGGGTTTCTGTGATGGTGAGAATAATGGACATGGGGAAGTAGCATCTTTCCCTGGC
CCATTGAAAGAAGAGAATCTGTTAAATGTTCCGAAGCCACTGCCAAAACAACTGTGGGAGACCAAGGAGATTCAGTCCCTGTCAGGACGCCCTCGATCCTGTGAT
GTTGGAGGTGGCAATGCTTTTCCACATAATGGTCAAAACCTAGGCCTCTCACCCTTCTTGGGGACCTTGAACACTGGAGGGTCATTGCCAGATCTAACCAACCTC
CACTACTCGACACCCCTGCCAGCCTCCCTGGACACCACCGACCACCACTTTGGCAGTATGAGTGTGGGGAATAGTGTGAACAACATCCCAGCTGCTATGACCCAC
CTGGGTATAAGAAGCTCCTCTGGTCTCCAGAGTTCTCGGAGTAACCCCTCCATCCAAGCCACGCTCAATAAGACTGTGCTTTCCTCTTCCTTAAATAACCACCCA
CAGACATCTGTTCCCAACGCATCTGCTCTTCACCCTTCGCTCCGTCTGTTTTCCCTTAGCAACCCATCTCTTTCCACCACAAACCTGAGCGGCCCGTCTCGGCGT
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>CRTC3|64784|protein
MAASPGSGSANPRKFSEKIALHTQRQAEETRAFEQLMTDLTLSRVQFQKLQQLRLTQYHGGSLPNVSQLRSSASEFQPSFHQADNVRGTRHHGLVERPSRNRFHP
LHRRSGDKPGRQFDGSAFGANYSSQPLDESWPRQQPPWKDEKHPGFRLTSALNRTNSDSALHTSALSTKPQDPYGGGGQSAWPAPYMGFCDGENNGHGEVASFPG
PLKEENLLNVPKPLPKQLWETKEIQSLSGRPRSCDVGGGNAFPHNGQNLGLSPFLGTLNTGGSLPDLTNLHYSTPLPASLDTTDHHFGSMSVGNSVNNIPAAMTH
LGIRSSSGLQSSRSNPSIQATLNKTVLSSSLNNHPQTSVPNASALHPSLRLFSLSNPSLSTTNLSGPSRRRQPPVSPLTLSPGPEAHQGFSRQLSSTSPLAPYPT
SQMVSSDRSQLSFLPTEAQAQVSPPPPYPAPQELTQPLLQQPRAPEAPAQQPQAASSLPQSDFQLLPAQGSSLTNFFPDVGFDQQSMRPGPAFPQQVPLVQQGSR
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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 (3) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (5)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top