AutismKB 2.0

Evidence Details for GRAMD4


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Basic Information Top
Gene Symbol:GRAMD4 ( DIP,KIAA0767,MGC149847,MGC90497,dA59H18.1,dJ439F8.1 )
Gene Full Name: GRAM domain containing 4
Band: 22q13.31
Quick LinksEntrez ID:23151; OMIM: NA; Uniprot ID:GRAM4_HUMAN; ENSEMBL ID: ENSG00000075240; HGNC ID: 29113
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRAMD4|23151|nucleotide
ATGCTAAGGAGGTTGGACAAAATCAGGTTCAGAGGTCACAAGAGAGATGACTTCCTCGATCTAGCGGAGTCTCCAAATGCCTCGGACACCGAATGCAGCGACGAA
ATCCCCCTGAAGGTACCGCGGACCTCGCCCCGGGACAGCGAGGAGCTGAGGGACCCTGCTGGTCCAGGGACCCTCATCATGGCCACAGGAGTCCAGGACTTTAAC
CGGACAGAGTTTGATCGACTGAATGAGATCAAAGGTCACCTGGAAATTGCCTTATTGGAAAAACATTTCTTACAGGAGGAGCTCCGGAAGCTGCGAGAAGAAACC
AACGCGGAGATGCTGCGGCAGGAGCTGGACCGCGAGCGGCAGCGGCGGATGGAGCTGGAGCAGAAGGTGCAGGAGGTGCTGAAGGCCAGAACCGAGGAGCAGATG
GCTCAGCAGCCCCCAAAAGGGCAGGCCCAGGCCAGCAATGGAGCAGAGCGCCGGAGCCAGGGGCTGTCCTCGCGCCTGCAGAAGTGGTTCTACGAGCGGTTCGGG
GAGTACGTGGAGGACTTCCGGTTCCAGCCCGAGGAGAACACTGTGGAGACAGAGGAACCCCTGAGCGCCCGCAGGTTAACTGAAAATATGAGACGGCTCAAGCGC
GGTGCCAAGCCGGTCACTAACTTTGTGAAGAACCTCTCTGCCTTATCCGACTGGTACTCCGTCTACACGTCTGCCATTGCCTTCACCGTGTACATGAATGCCGTG
TGGCATGGCTGGGCCATCCCATTGTTCTTATTTCTAGCAATTCTGAGGTTATCCCTCAATTACCTCATCGCCAGGGGGTGGCGGATACAGTGGAGCATCGTGCCC
GAAGTGTCTGAGCCCGTGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGAACCTTTTCGGGAAG
ATGGCTGACATCCTGGAGAAGATCAAGAACTTGTTCATGTGGGTCCAGCCGGAGATCACACAGAAGCTGTATGTGGCGCTCTGGGCTGCCTTCCTGGCCTCCTGC
TTCTTCCCCTACCGCCTGGTGGGGCTTGCCGTGGGACTCTATGCTGGTATCAAGTTCTTCCTCATTGATTTCATCTTTAAACGCTGCCCGAGGCTGCGCGCCAAG
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>GRAMD4|23151|protein
MLRRLDKIRFRGHKRDDFLDLAESPNASDTECSDEIPLKVPRTSPRDSEELRDPAGPGTLIMATGVQDFNRTEFDRLNEIKGHLEIALLEKHFLQEELRKLREET
NAEMLRQELDRERQRRMELEQKVQEVLKARTEEQMAQQPPKGQAQASNGAERRSQGLSSRLQKWFYERFGEYVEDFRFQPEENTVETEEPLSARRLTENMRRLKR
GAKPVTNFVKNLSALSDWYSVYTSAIAFTVYMNAVWHGWAIPLFLFLAILRLSLNYLIARGWRIQWSIVPEVSEPVEPPKEDLTVSEKFQLVLDVAQKAQNLFGK
MADILEKIKNLFMWVQPEITQKLYVALWAAFLASCFFPYRLVGLAVGLYAGIKFFLIDFIFKRCPRLRAKYDTPYIIWRSLPTDPQLKERSSAAVSRRLQTTSSR
SYVPSAPAGLGKEEDAGRFHSTKKGNFHEIFNLTENERPLAVCENGWRCCLINRDRKMPTDYIRNGVLYVTENYLCFESSKSGSSKRNKVIKLVDITDIQKYKVL
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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 (6) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (8)
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
Goizet, 2000 - FISHautism - - - - 1 - 1
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top