AutismKB 2.0

Evidence Details for GRAMD1B


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Basic Information Top
Gene Symbol:GRAMD1B ( KIAA1201,MGC125622,MGC125623,MGC125625 )
Gene Full Name: GRAM domain containing 1B
Band: 11q24.1
Quick LinksEntrez ID:57476; OMIM: NA; Uniprot ID:GRM1B_HUMAN; ENSEMBL ID: ENSG00000023171; HGNC ID: 29214
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRAMD1B|57476|nucleotide
ATGAAAGGATTCAAGCTCTCCTGCACTGCCAGTAACTCCAACCGCAGCACGCCGGCCTGCTCGCCCATCCTCCGGAAGCGGTCTCGCTCGCCAACCCCGCAGAAC
CAGGACGGAGACACCATGGTGGAGAAGGGCTCAGATCACTCCTCGGACAAGTCCCCGTCCACACCGGAGCAGGGCGTGCAGCGCAGCTGCTCCTCCCAGTCCGGC
CGGAGCGGCGGCAAGAATTCCAAGAAAAGCCAGAGTTGGTATAATGTGTTAAGCCCCACCTACAAGCAGAGAAATGAAGACTTCAGAAAGCTCTTTAAGCAGCTT
CCAGACACGGAGCGCCTCATTGTTGATTACTCATGTGCACTCCAAAGAGACATTCTCCTTCAGGGCCGACTCTACCTCTCTGAAAATTGGATCTGCTTCTACAGC
AACATCTTCCGCTGGGAAACTCTGCTGACAGTCCGTTTGAAAGACATCTGTTCCATGACTAAAGAAAAAACAGCTCGCCTCATTCCCAATGCCATCCAAGTTTGC
ACTGATTCAGAAAAGCACTTCTTCACTTCGTTTGGGGCCCGGGATAGGACATATATGATGATGTTCCGGCTCTGGCAGAATGCTCTCCTTGAAAAGCCTCTGTGT
CCCAAGGAGCTCTGGCACTTTGTTCACCAGTGCTATGGGAACGAATTGGGCCTGACCAGTGATGACGAGGACTACGTGCCCCCTGACGACGACTTCAACACAATG
GGATACTGTGAAGAGATCCCTGTGGAAGAGAATGAAGTGAATGACAGCTCATCCAAGAGCAGCATAGAGACCAAGCCAGATGCCAGTCCACAGCTGCCCAAGAAA
TCCATCACCAACAGCACACTAACATCCACAGGGAGCAGTGAGGCCCCCGTCTCGTTTGATGGGCTGCCCCTGGAGGAAGAGGCGCTGGAGGGAGACGGGTCCCTG
GAAAAGGAGCTCGCCATTGACAACATCATGGGGGAGAAGATTGAGATGATCGCTCCTGTGAACTCCCCTTCACTGGACTTCAATGACAATGAGGACATCCCCACT
GAGCTCAGTGACTCTTCCGACACACACGATGAAGGAGAGGTCCAGGCCTTCTATGAGGACCTGAGTGGCCGGCAGTACGTGAATGAAGTCTTCAACTTCAGCGTG
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>GRAMD1B|57476|protein
MKGFKLSCTASNSNRSTPACSPILRKRSRSPTPQNQDGDTMVEKGSDHSSDKSPSTPEQGVQRSCSSQSGRSGGKNSKKSQSWYNVLSPTYKQRNEDFRKLFKQL
PDTERLIVDYSCALQRDILLQGRLYLSENWICFYSNIFRWETLLTVRLKDICSMTKEKTARLIPNAIQVCTDSEKHFFTSFGARDRTYMMMFRLWQNALLEKPLC
PKELWHFVHQCYGNELGLTSDDEDYVPPDDDFNTMGYCEEIPVEENEVNDSSSKSSIETKPDASPQLPKKSITNSTLTSTGSSEAPVSFDGLPLEEEALEGDGSL
EKELAIDNIMGEKIEMIAPVNSPSLDFNDNEDIPTELSDSSDTHDEGEVQAFYEDLSGRQYVNEVFNFSVDKLYDLLFTNSPFQRDFMEQRRFSDIIFHPWKKEE
NGNQSRVILYTITLTNPLAPKTATVRETQTMYKASQESECYVIDAEVLTHDVPYHDYFYTINRYTLTRVARNKSRLRVSTELRYRKQPWGLVKTFIEKNFWSGLE
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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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top