AutismKB 2.0

Evidence Details for GRAMD1C


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Basic Information Top
Gene Symbol:GRAMD1C ( DKFZp434C0328,DKFZp686K06117,FLJ35862,FLJ40464 )
Gene Full Name: GRAM domain containing 1C
Band: 3q13.31
Quick LinksEntrez ID:54762; OMIM: NA; Uniprot ID:GRM1C_HUMAN; ENSEMBL ID: ENSG00000178075; HGNC ID: 25252
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRAMD1C|54762|nucleotide
ATGGAAAACTTGTCACTGTCGATTGAGGATGTGCAGCCAAGAAGTCCAGGAAGAAGCAGCTTGGATGACTCTGGGGAGAGAGATGAAAAATTATCCAAGTCAATC
AGTTTTACCAGTGAATCAATTAGTCGGGTTTCAGAAACAGAGTCATTCGATGGAAATTCATCAAAAGGAGGATTAGGCAAAGAGGAGTCCCAAAATGAGAAACAG
ACCAAAAAGAGTCTCTTACCAACTTTGGAAAAGAAGTTAACTAGAGTGCCATCAAAGTCACTGGACTTGAATAAAAATGAATATCTTTCTCTGGACAAAAGCAGC
ACTTCAGATTCTGTTGATGAAGAAAATGTTCCTGAGAAAGATCTTCATGGAAGACTTTTTATCAACCGTATTTTTCATATCAGTGCTGACAGAATGTTTGAATTG
CTCTTTACCAGTTCACGCTTTATGCAGAAATTTGCCAGTTCTAGAAATATAATAGATGTAGTATCTACCCCTTGGACTGCAGAACTTGGAGGTGATCAGCTGAGA
ACGATGACCTACACTATAGTCCTTAATAGTCCACTTACTGGAAAATGCACTGCTGCCACTGAAAAGCAGACACTGTATAAAGAAAGTCGGGAAGCACGATTTTAT
TTGGTAGATTCAGAAGTACTGACACATGATGTCCCCTACCATGATTACTTCTATACCGTGAACAGATACTGTATCATCCGATCTTCAAAACAGAAATGCAGGCTA
AGAGTTTCCACAGATTTGAAATACAGAAAACAGCCATGGGGCCTTGTCAAATCTTTAATTGAAAAGAATTCCTGGAGTTCTTTGGAGGACTATTTCAAACAGCTT
GAATCAGATTTGTTAATTGAAGAATCTGTATTAAATCAGGCCATTGAAGACCCTGGAAAACTTACTGGCCTACGAAGGAGAAGGCGAACCTTCAACCGAACAGCA
GAAACAGTTCCTAAACTTTCCTCTCAGCATTCCTCTGGAGATGTGGGCTTAGGTGCCAAAGGGGATATTACAGGAAAGAAAAAGGAAATGGAAAACTATAACGTC
ACTCTTATTGTGGTAATGAGTATTTTTGTGTTGTTATTAGTTTTGTTGAATGTGACACTGTTTCTGAAGCTGTCAAAGATAGAACATGCTGCTCAGTCCTTTTAC
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>GRAMD1C|54762|protein
MENLSLSIEDVQPRSPGRSSLDDSGERDEKLSKSISFTSESISRVSETESFDGNSSKGGLGKEESQNEKQTKKSLLPTLEKKLTRVPSKSLDLNKNEYLSLDKSS
TSDSVDEENVPEKDLHGRLFINRIFHISADRMFELLFTSSRFMQKFASSRNIIDVVSTPWTAELGGDQLRTMTYTIVLNSPLTGKCTAATEKQTLYKESREARFY
LVDSEVLTHDVPYHDYFYTVNRYCIIRSSKQKCRLRVSTDLKYRKQPWGLVKSLIEKNSWSSLEDYFKQLESDLLIEESVLNQAIEDPGKLTGLRRRRRTFNRTA
ETVPKLSSQHSSGDVGLGAKGDITGKKKEMENYNVTLIVVMSIFVLLLVLLNVTLFLKLSKIEHAAQSFYRLRLQEEKSLNLASDMVSRAETIQKNKDQAHRLKG
VLRDSIVMLEQLKSSLIMLQKTFDLLNKNKTGMAVES
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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 (1) 0 (0) 4 (6)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Fan Y, 2016 China CMA--autism - - - - 3 - 3
Linkage Studies Top