AutismKB 2.0

Evidence Details for GRAMD3


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Basic Information Top
Gene Symbol:GRAMD3 ( FLJ21313,NS3TP2 )
Gene Full Name: GRAM domain containing 3
Band: 5q23.2
Quick LinksEntrez ID:65983; OMIM: NA; Uniprot ID:GRAM3_HUMAN; ENSEMBL ID: ENSG00000155324; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRAMD3|65983|nucleotide
ATGACAAGGAGACAGCAAGTCCTACAAGCAAAAAGGAGCATTCAGCAAACATTCCAAGCACAGCTTATGCCCTGGAAGAGTATGTTCCACGGGAGAGAAGTGAAG
CCAGTGGGTCCGGACCTGGAACTCTCAGAGGCTGAGAATGGTGTGGAGGAGAAAAAGAAAGCCTGCAGGTCGCCAACAGCCCAATCCCCTACCCCATCTGTGGAG
GCGGACTCCCCAGACCAGAAGAAAATCATTAGCCTATGGTCAAAATCCAGTTTTGATGGTGCCTCTTTAGCAAGTGATAAGAACGACTGTAAAACAGAAAGCAAA
AATGACCCTAAGACTGAAAGAAAAAAGTCTTCATCTTCCAGCCAGTACAAGGCCAATATGCACTTTCACAAGTTGTTTCTTAGTGTCCCAACGGAGGAACCACTG
AAGCAAAGCTTTACCTGTGCTCTACAGAAAGAAATACTATACCAAGGAAAGCTCTTTGTATCAGAAAACTGGATTTGTTTTCATTCCAAAGTCTTTGGAAAAGAC
ACAAAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGTAC
ATATTTGTCTCCTTACTCTCCAGAGATTCAACTTACAAACTACTAAAATCTGTGTGTGGACACTTAGAAAATACAAGTGTTGGTAACAGTCCCAATCCATCTTCT
GCTGAAAACAGTTTCCGAGCAGACCGCCCTTCATCTCTGCCTCTGGATTTCAATGATGAATTCTCAGATCTGGATGGAGTGGTTCAACAAAGAAGGCAAGACATG
GAAGGATATAGCAGTTCTGGTTCTCAAACTCCTGAATCTGAGAACTCTCGAGATTTCCATGCGACAGAATCCCAAACAGTTCTGAATGTCTCCAAGGGAGAAGCA
AAGCCAACTCGGGCAGATGCCCATGTGAACAGAGTACCTGAAGGAAAAGCCAAGAGTCTCCCTGTACAGGGTCTGTCAGAAACTGTTGGAATCTTACATAAAGTC
AAGTCTCAGAAATGTCCGATGCTTCACCATATTCTTATATTCTATGCAATTGTTGTCTGTGCACTAATCATCTCGACCTTCTACATGAGATACAGAATTAATACT
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>GRAMD3|65983|protein
MTRRQQVLQAKRSIQQTFQAQLMPWKSMFHGREVKPVGPDLELSEAENGVEEKKKACRSPTAQSPTPSVEADSPDQKKIISLWSKSSFDGASLASDKNDCKTESK
NDPKTERKKSSSSSQYKANMHFHKLFLSVPTEEPLKQSFTCALQKEILYQGKLFVSENWICFHSKVFGKDTKISIPAFSVTLIKKTKTALLVPNALIIATVTDRY
IFVSLLSRDSTYKLLKSVCGHLENTSVGNSPNPSSAENSFRADRPSSLPLDFNDEFSDLDGVVQQRRQDMEGYSSSGSQTPESENSRDFHATESQTVLNVSKGEA
KPTRADAHVNRVPEGKAKSLPVQGLSETVGILHKVKSQKCPMLHHILIFYAIVVCALIISTFYMRYRINTLEEQLGLLTSIVDTHNTEQAAPSGLRSQVQFNVEV
LCQELTANIVKLEKIQNNLQKLLENGD
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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 (1) 0 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
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
Linkage Studies Top