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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Schellenberg, 2006 USA microsatellite-based genomic screenautism 222 - 222 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2012 - 343 50 De novo gene disruptions in children on the autistic spectrum.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018