AutismKB 2.0

Evidence Details for RBMS3


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Basic Information Top
Gene Symbol:RBMS3 ( FLJ36544 )
Gene Full Name: RNA binding motif, single stranded interacting protein 3
Band: 3p24.1
Quick LinksEntrez ID:27303; OMIM: 605786; Uniprot ID:RBMS3_HUMAN; ENSEMBL ID: ENSG00000144642; HGNC ID: 13427
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RBMS3|27303|nucleotide
ATGGGCAAACGCCTGGATCAGCCACAAATGTACCCCCAGTACACTTACTACTATCCTCATTATCTCCAAACCAAGTCCTATGCACCAGCTCCCCACCCCATGGCT
CCTCCCAGCCCCAGCACAAACAGCAGCAGCAACAACAGCAGCAACAACAGCAGCGGGGAACAGTTGAGTAAAACCAACCTGTACATTCGAGGCCTCCCACCAGGC
ACCACTGACCAGGACCTAATCAAGCTGTGCCAACCGTATGGAAAAATTGTATCTACAAAGGCAATTCTTGACAAAAACACAAATCAGTGCAAAGGTTATGGTTTT
GTAGATTTTGACAGTCCTGCAGCCGCACAGAAAGCGGTAGCATCTCTCAAGGCAAATGGCGTGCAGGCACAGATGGCTAAGCAACAAGAGCAAGACCCAACAAAC
CTATACATCTCAAATCTCCCCATTTCTATGGATGAGCAGGAGCTTGAGAATATGCTGAAACCCTTTGGACATGTCATTTCCACAAGAATACTAAGAGACGCTAAT
GGAGTCAGCAGAGGTGTTGGCTTTGCCAGAATGGAGTCTACTGAAAAATGTGAAGTGGTAATTCAACATTTTAATGGAAAATATCTGAAAACACCACCAGGCATC
CCAGCCCCCAGTGAGCCTTTGCTGTGCAAATTCGCTGATGGAGGACAAAAGAAGCGACAGAATCAAAGCAAATATACCCAGAATGGGAGGCCTTGGCCCAGGGAA
GGAGAGGCTGGCATGGCTTTGACCTATGACCCCACAGCTGCCATACAGAATGGATTTTATTCTTCACCGTACAGTATTGCAACCAACCGCATGATTCCACAGACA
TCTATCACGCCATTCATTGCTGCTTCCCCTGTCTCCACATACCAGGGTGCTGTGATTACACCAACCATGGACCATCCCATGTCAATGCAGCCAGCCAACATGATG
GGCCCACTGACACAGCAGATGAATCACCTTTCGTTGGGCACAACAGGAACGATTCAATCCCAAGACAGGATTATGATACTCCACCAGCTGTTGTGTCAGTATATG
ACTGCTGCTGCTCCTATGCAAGGGACCTACATTCCTCAGTACACGCCTGTGCCTCCGACAGCTGTTTCTATTGAAGGTGTTGTTGCTGATACCTCTCCCCAGACA
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>RBMS3|27303|protein
MGKRLDQPQMYPQYTYYYPHYLQTKSYAPAPHPMAPPSPSTNSSSNNSSNNSSGEQLSKTNLYIRGLPPGTTDQDLIKLCQPYGKIVSTKAILDKNTNQCKGYGF
VDFDSPAAAQKAVASLKANGVQAQMAKQQEQDPTNLYISNLPISMDEQELENMLKPFGHVISTRILRDANGVSRGVGFARMESTEKCEVVIQHFNGKYLKTPPGI
PAPSEPLLCKFADGGQKKRQNQSKYTQNGRPWPREGEAGMALTYDPTAAIQNGFYSSPYSIATNRMIPQTSITPFIAASPVSTYQGAVITPTMDHPMSMQPANMM
GPLTQQMNHLSLGTTGTIQSQDRIMILHQLLCQYMTAAAPMQGTYIPQYTPVPPTAVSIEGVVADTSPQTVAPSSQDTSGQQQQIAVDTSNEHAPAYSYQQSKP

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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (0) 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
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
Linkage Studies Top
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
O'Roak BJ, 2011 - 20 21 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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