AutismKB 2.0

Evidence Details for SF3B3


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Basic Information Top
Gene Symbol:SF3B3 ( KIAA0017,RSE1,SAP130,SF3b130,STAF130 )
Gene Full Name: splicing factor 3b, subunit 3, 130kDa
Band: 16q22.1
Quick LinksEntrez ID:23450; OMIM: 605592; Uniprot ID:SF3B3_HUMAN; ENSEMBL ID: ENSG00000189091; HGNC ID: 10770
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SF3B3|23450|nucleotide
ATGTTTCTGTACAACTTAACCTTGCAGAGAGCCACTGGCATCAGCTTTGCCATTCATGGAAACTTTTCTGGAACCAAACAACAAGAAATTGTTGTTTCCCGTGGG
AAGATCTTGGAGCTGCTTCGCCCAGACCCCAACACTGGCAAAGTACATACCCTACTCACTGTGGAAGTATTCGGTGTTATCCGGTCACTCATGGCCTTTAGGCTG
ACAGGTGGCACCAAAGACTACATTGTAGTTGGCAGTGACTCTGGTCGAATTGTTATTTTGGAATACCAGCCATCTAAGAATATGTTTGAGAAGATTCACCAAGAA
ACCTTTGGCAAGAGTGGATGCCGTCGCATCGTTCCTGGCCAGTTCTTAGCTGTGGATCCCAAAGGGCGAGCCGTTATGATTAGTGCCATTGAGAAACAGAAATTG
GTGTATATTTTGAACAGAGATGCTGCAGCCCGACTTACCATTTCATCTCCCCTGGAAGCCCACAAAGCAAACACTTTAGTGTATCATGTAGTTGGAGTAGATGTC
GGATTTGAAAATCCAATGTTTGCTTGTCTGGAAATGGATTATGAGGAAGCAGACAATGATCCAACAGGGGAAGCAGCAGCTAATACCCAGCAGACACTTACTTTC
TATGAGCTAGACCTTGGTTTAAATCATGTGGTCCGAAAATACAGTGAACCTTTGGAGGAACACGGCAACTTCCTTATTACAGTTCCAGGAGGGTCAGATGGTCCA
AGTGGAGTACTGATCTGCTCTGAAAACTATATTACTTACAAGAACTTTGGTGACCAGCCAGATATCCGCTGTCCAATTCCCAGGAGGCGGAATGACCTGGATGAC
CCTGAAAGAGGAATGATTTTTGTCTGCTCTGCAACCCATAAAACCAAATCGATGTTCTTCTTTTTGGCTCAAACTGAGCAGGGAGATATCTTTAAGATCACTTTG
GAGACAGATGAAGATATGGTTACTGAGATCCGGCTCAAATATTTTGATACTGTACCCGTTGCTGCTGCCATGTGTGTGCTTAAAACAGGGTTCCTTTTTGTAGCA
TCAGAATTTGGAAACCATTACTTATATCAAATTGCACATCTTGGAGATGATGATGAAGAACCTGAGTTTTCATCAGCCATGCCTCTGGAAGAAGGAGACACATTC
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>SF3B3|23450|protein
MFLYNLTLQRATGISFAIHGNFSGTKQQEIVVSRGKILELLRPDPNTGKVHTLLTVEVFGVIRSLMAFRLTGGTKDYIVVGSDSGRIVILEYQPSKNMFEKIHQE
TFGKSGCRRIVPGQFLAVDPKGRAVMISAIEKQKLVYILNRDAAARLTISSPLEAHKANTLVYHVVGVDVGFENPMFACLEMDYEEADNDPTGEAAANTQQTLTF
YELDLGLNHVVRKYSEPLEEHGNFLITVPGGSDGPSGVLICSENYITYKNFGDQPDIRCPIPRRRNDLDDPERGMIFVCSATHKTKSMFFFLAQTEQGDIFKITL
ETDEDMVTEIRLKYFDTVPVAAAMCVLKTGFLFVASEFGNHYLYQIAHLGDDDEEPEFSSAMPLEEGDTFFFQPRPLKNLVLVDELDSLSPILFCQIADLANEDT
PQLYVACGRGPRSSLRVLRHGLEVSEMAVSELPGNPNAVWTVRRHIEDEFDAYIIVSFVNATLVLSIGETVEEVTDSGFLGTTPTLSCSLLGDDALVQVYPDGIR
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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 (0) 1 (1) 0 (0) 0 (0) 3 (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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top