AutismKB 2.0

Evidence Details for MARVELD3


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Basic Information Top
Gene Symbol:MARVELD3 ( FLJ32280,MARVD3,MRVLDC3 )
Gene Full Name: MARVEL domain containing 3
Band: 16q22.2
Quick LinksEntrez ID:91862; OMIM: NA; Uniprot ID:MALD3_HUMAN; ENSEMBL ID: ENSG00000140832; HGNC ID: 30525
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MARVELD3|91862|nucleotide
ATGGAAGATCCGTCGGGGGCTCGCGAGCCCCGGGCCCGGCCGAGAGAGCGGGACCCGGGACGGCGCCCCCACCCAGACCAAGGCCGCACCCACGATCGACCGCGG
GACCGACCCGGGGACCCGCGCAGGAAGCGAAGCAGCGACGGGAACCGGCGAAGGGACGGGGACCGGGACCCGGAGAGAGACCAGGAGAGGGACGGGAACCGCGAC
CGGAACCGGGACCGGGAGAGGGAGAGAGAGAGGGAAAGAGACCCGGACCGAGGCCCCCGCCGGGACACACACAGGGACGCGGGCCCTCGCGCAGGTGAACACGGA
GTTTGGGAAAAACCGCGCCAAAGCCGGACGCGGGACGGAGCCCGGGGACTGACCTGGGACGCAGCCGCGCCTCCTGGGCCCGCGCCCTGGGAAGCCCCGGAGCCG
CCGCAGCCGCAGAGGAAGGGAGACCCCGGGCGCCGCAGACCCGAAAGTGAACCCCCTTCGGAGAGATATCTGCCCTCGACCCCCAGGCCTGGACGAGAGGAGGTG
GAATATTACCAGTCAGAGGCGGAAGGACTCCTGGAATGCCACAAATGCAAATACTTGTGCACTGGGAGAGGTGTGGTGCAGATAGTGGAGGTGGTCTTGAATGGG
ATGGTTCTCATATGCATCGTGGCCTCCTACTTTGTCCTTGCCGGATTCAGTGCCAGCTTTTCCAGCGGCGGTGGCTTTGGGAACAACTACTACTCACCGTTCGAG
GGCACTGAGCTAGAGCAGGTTCGGCAGCTGGACCAGCAGTACACGATCCTCCGCTCGCCCCTGATATACGGTGGCGTGGCTGTTTCTCTGGGTCTGGGGGTCCTC
ACCATGGGTGTTTTACTCCAAGGAGCCAAGAGTCGAACAATGTTGTCAGGGAAGTGGCTCCTCACGGAGGCCGCCTTCAGCCTCCTAGCGGCAGTGGGCTACTGC
ACAGGCATTGGTGTTTACCTCCACGTGGCTCTGCAGATCAATAGCACCGACACTTGCAAAACAAGAGAGAGGCTCTATGCCCGCAAGGGTCTCACCTGGATGGAC
TGCCAGCTGGCAGGCACCGACGGAGCAGCAGCCACCTTTGCTTGTCTTCTCGTGATCATGTACGGCGCCAGCGTGGTGCTGGCCCTGCGTAGCTACCGAGAACAG
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>MARVELD3|91862|protein
MEDPSGAREPRARPRERDPGRRPHPDQGRTHDRPRDRPGDPRRKRSSDGNRRRDGDRDPERDQERDGNRDRNRDRERERERERDPDRGPRRDTHRDAGPRAGEHG
VWEKPRQSRTRDGARGLTWDAAAPPGPAPWEAPEPPQPQRKGDPGRRRPESEPPSERYLPSTPRPGREEVEYYQSEAEGLLECHKCKYLCTGRGVVQIVEVVLNG
MVLICIVASYFVLAGFSASFSSGGGFGNNYYSPFEGTELEQVRQLDQQYTILRSPLIYGGVAVSLGLGVLTMGVLLQGAKSRTMLSGKWLLTEAAFSLLAAVGYC
TGIGVYLHVALQINSTDTCKTRERLYARKGLTWMDCQLAGTDGAAATFACLLVIMYGASVVLALRSYREQKRYKGSREQPGSYSDAPEYLWSGTL

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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) 0 (0) 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
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top