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

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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 (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