AutismKB 2.0

Evidence Details for TBL3


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Basic Information Top
Gene Symbol:TBL3 ( SAZD )
Gene Full Name: transducin (beta)-like 3
Band: 16p13.3
Quick LinksEntrez ID:10607; OMIM: 605915; Uniprot ID:TBL3_HUMAN; ENSEMBL ID: ENSG00000183751; HGNC ID: 11587
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TBL3|10607|nucleotide
ATGGCAGAGACCGCGGCCGGAGTGGGCCGCTTCAAGACCAACTATGCTGTGGAGCGCAAAATTGAGCCTTTCTACAAGGGCGGAAAAGCACAGCTGGACCAGACT
GGCCAGCACCTCTTCTGCGTCTGTGGCACCAGAGTCAACATTCTGGAAGTGGCCTCGGGGGCCGTGCTGCGGAGTCTGGAGCAGGAGGACCAGGAGGACATCACT
GCCTTTGACCTCAGCCCTGACAACGAGGTGCTGGTGACAGCCAGTCGGGCATTGCTGCTGGCTCAGTGGGCCTGGCAAGAGGGCAGCGTTACCCGCCTGTGGAAG
GCGATACACACGGCCCCCGTGGCCACCATGGCCTTCGACCCCACCTCCACTCTGCTAGCCACAGGTGGCTGTGATGGGGCCGTGCGCGTCTGGGACATCGTGCGG
CACTACGGGACACACCACTTCCGAGGCTCGCCCGGTGTCGTGCACCTAGTGGCCTTCCACCCGGACCCTACACGCCTGCTGCTCTTCTCCTCGGCCACGGATGCC
GCCATCCGCGTGTGGTCACTGCAGGACCGGTCATGCCTGGCTGTGCTGACTGCCCACTACAGCGCCGTCACCTCACTGGCCTTCAGCGCCGACGGCCACACCATG
CTCAGCTCCGGCCGTGACAAGATATGTATCATCTGGGACCTTCAGAGCTGCCAGGCCACGAGGACCGTGCCTGTGTTTGAGAGCGTGGAGGCTGCTGTGCTGTTG
CCAGAGGAGCCAGTGTCCCAGCTGGGTGTGAAGTCCCCAGGGCTGTACTTTCTGACAGCTGGCGACCAAGGCACTCTGCGCGTGTGGGAGGCAGCTTCTGGGCAG
TGTGTGTACACGCAGGCCCAGCCGCCGGGCCCTGGGCAGGAGCTGACCCACTGCACCCTGGCACACACCGCCGGCGTGGTCCTCACCGCCACCGCCGACCACAAC
CTGTTGCTCTACGAGGCTCGCTCCCTGCGGCTGCAGAAACAGTTCGCTGGCTACAGTGAGGAGGTTTTGGATGTCCGGTTTCTTGGGCCCGAGGACTCCCACGTT
GTCGTGGCCTCCAATAGCCCCTGCCTAAAAGTGTTTGAGCTGCAGACGTCAGCCTGCCAGATCCTCCACGGCCACACGGATATCGTCCTGGCCCTGGATGTGTTC
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>TBL3|10607|protein
MAETAAGVGRFKTNYAVERKIEPFYKGGKAQLDQTGQHLFCVCGTRVNILEVASGAVLRSLEQEDQEDITAFDLSPDNEVLVTASRALLLAQWAWQEGSVTRLWK
AIHTAPVATMAFDPTSTLLATGGCDGAVRVWDIVRHYGTHHFRGSPGVVHLVAFHPDPTRLLLFSSATDAAIRVWSLQDRSCLAVLTAHYSAVTSLAFSADGHTM
LSSGRDKICIIWDLQSCQATRTVPVFESVEAAVLLPEEPVSQLGVKSPGLYFLTAGDQGTLRVWEAASGQCVYTQAQPPGPGQELTHCTLAHTAGVVLTATADHN
LLLYEARSLRLQKQFAGYSEEVLDVRFLGPEDSHVVVASNSPCLKVFELQTSACQILHGHTDIVLALDVFRKGWLFASCAKDQSVRIWRMNKAGQVMCVAQGSGH
THSVGTVCCSRLKESFLVTGSQDCTVKLWPLPKALLSKNTAPDNGPILLQAQTTQRCHDKDINSVAIAPNDKLLATGSQDRTAKLWALPQCQLLGVFSGHRRGLW
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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) 0 (0) 1 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
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