AutismKB 2.0

Evidence Details for C19orf28


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Basic Information Top
Gene Symbol:C19orf28 ( MGC20700,PP3501 )
Gene Full Name: chromosome 19 open reading frame 28
Band: 19p13.3
Quick LinksEntrez ID:126321; OMIM: NA; Uniprot ID:CS028_HUMAN; ENSEMBL ID: ENSG00000161091; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C19orf28|126321|nucleotide
ATGGGCCCGGGACCCCCAGCGGCCGGAGCGGCGCCGTCCCCGCGGCCGCTGTCCCTGGTGGCGCGGCTGAGCTACGCCGTGGGCCACTTCCTCAACGACCTGTGC
GCGTCCATGTGGTTCACCTACCTGCTGCTCTACCTGCACTCGGTGCGCGCCTACAGCTCCCGCGGCGCGGGGCTGCTGCTGCTGCTGGGCCAGGTGGCCGACGGG
CTGTGCACACCGCTCGTGGGCTACGAGGCCGACCGCGCCGCCAGCTGCTGCGCCCGCTACGGCCCGCGCAAGGCCTGGCACCTGGTCGGCACCGTCTGCGTCCTG
CTGTCCTTCCCCTTCATCTTCAGCCCCTGCCTGGGCTGTGGGGCGGCCACGCCCGAGTGGGCTGCCCTCCTCTACTACGGCCCGTTCATCGTGATCTTCCAGTTT
GGCTGGGCCTCCACACAGATCTCCCACCTCAGCCTCATCCCGGAGCTCGTCACCAACGACCATGAGAAGGTGGAGCTCACGGCACTCAGGTATGCGTTCACCGTG
GTGGCCAACATCACCGTCTACGGCGCCGCCTGGCTCCTGCTGCACCTGCAGGGCTCGTCGCGGGTGGAGCCCACCCAAGACATCAGCATCAGCGACCAGCTGGGG
GGCCAGGACGTGCCCGTGTTCCGGAACCTGTCCCTGCTGGTGGTGGGTGTCGGCGCCGTGTTCTCACTGCTATTCCACCTGGGCACCCGGGAGAGGCGCCGGCCG
CATGCGGAGGAGCCAGGCGAGCACACCCCCCTGTTGGCCCCTGCCACGGCCCAGCCCCTGCTGCTCTGGAAGCACTGGCTCCGGGAGCCGGCTTTCTACCAGGTG
GGCATACTGTACATGACCACCAGGCTCATCGTGAACCTGTCCCAGACCTACATGGCCATGTACCTCACCTACTCGCTCCACCTGCCCAAGAAGTTCATCGCGACC
ATTCCCCTGGTGATGTACCTCAGCGGCTTCTTGTCCTCCTTCCTCATGAAGCCCATCAACAAGTGCATTGGGAGGAACATGACCTACTTCTCAGGCCTCCTGGTG
ATCCTGGCCTTTGCCGCCTGGGTGGCGCTGGCGGAGGGACTGGGTGTGGCCGTGTACGCAGCGGCTGTGCTGCTGGGTGCTGGCTGTGCCACCATCCTCGTCACC
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>C19orf28|126321|protein
MGPGPPAAGAAPSPRPLSLVARLSYAVGHFLNDLCASMWFTYLLLYLHSVRAYSSRGAGLLLLLGQVADGLCTPLVGYEADRAASCCARYGPRKAWHLVGTVCVL
LSFPFIFSPCLGCGAATPEWAALLYYGPFIVIFQFGWASTQISHLSLIPELVTNDHEKVELTALRYAFTVVANITVYGAAWLLLHLQGSSRVEPTQDISISDQLG
GQDVPVFRNLSLLVVGVGAVFSLLFHLGTRERRRPHAEEPGEHTPLLAPATAQPLLLWKHWLREPAFYQVGILYMTTRLIVNLSQTYMAMYLTYSLHLPKKFIAT
IPLVMYLSGFLSSFLMKPINKCIGRNMTYFSGLLVILAFAAWVALAEGLGVAVYAAAVLLGAGCATILVTSLAMTADLIGPHTNSGAFVYGSMSFLDKVANGLAV
MAIQSLHPCPSELCCRACVSFYHWAMVAVTGGVGVAAALCLCSLLLWPTRLRR
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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 (2) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (5)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top