AutismKB 2.0

Evidence Details for TIAL1


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Basic Information Top
Gene Symbol:TIAL1 ( MGC33401,TCBP,TIAR )
Gene Full Name: TIA1 cytotoxic granule-associated RNA binding protein-like 1
Band: 10q26.11
Quick LinksEntrez ID:7073; OMIM: 603413; Uniprot ID:TIAR_HUMAN; ENSEMBL ID: ENSG00000151923; HGNC ID: 11804
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TIAL1|7073|nucleotide
ATGATGGAAGACGACGGGCAGCCCCGGACTCTATACGTAGGTAACCTTTCCAGAGATGTGACAGAAGTCCTTATACTTCAGTTGTTCAGTCAGATTGGACCCTGT
AAAAGCTGTAAAATGATAACAGAGCAACCCGATAGCAGAAGGGTCAACTCTTCTGTTGGATTTTCTGTTTTGCAGCATACAAGCAATGACCCATATTGCTTTGTG
GAATTTTATGAACACAGAGATGCAGCTGCTGCATTAGCTGCTATGAATGGGAGAAAAATTTTGGGAAAGGAGGTCAAAGTAAACTGGGCAACCACACCAAGTAGC
CAGAAAAAAGATACTTCCAATCACTTCCATGTGTTTGTTGGGGATTTGAGTCCAGAAATTACAACAGAAGATATCAAATCAGCATTTGCCCCCTTTGGTAAAATA
TCGGATGCCCGGGTAGTTAAAGACATGGCAACTGGAAAATCCAAAGGCTATGGTTTTGTATCTTTTTATAACAAACTGGATGCAGAAAATGCGATTGTGCATATG
GGCGGTCAGTGGTTGGGTGGTCGTCAAATCCGAACCAATTGGGCCACTCGTAAACCACCTGCACCTAAAAGTACACAAGAAAACAACACTAAGCAGTTGAGATTT
GAAGATGTAGTAAACCAGTCAAGTCCAAAAAATTGTACTGTGTACTGTGGAGGAATTGCGTCTGGGTTAACAGATCAGCTTATGAGACAGACATTCTCACCATTT
GGACAAATTATGGAAATAAGAGTTTTCCCAGAAAAGGGCTATTCATTTGTCAGATTTTCAACCCATGAAAGTGCAGCCCATGCCATTGTTTCGGTGAACGGTACT
ACGATTGAAGGACATGTGGTTAAATGCTATTGGGGTAAAGAATCTCCTGATATGACTAAAAACTTCCAACAGGTTGACTATAGTCAATGGGGCCAATGGAGCCAA
GTGTATGGAAACCCACAACAGTATGGACAGTATATGGCAAATGGGTGGCAAGTACCGCCTTATGGAGTATACGGGCAACCATGGAATCAACAAGGATTTGGAGTA
GATCAATCACCTTCTGCTGCTTGGATGGGTGGATTTGGTGCTCAGCCTCCCCAAGGACAAGCTCCTCCCCCTGTAATACCTCCTCCTAACCAAGCCGGATATGGT
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>TIAL1|7073|protein
MMEDDGQPRTLYVGNLSRDVTEVLILQLFSQIGPCKSCKMITEQPDSRRVNSSVGFSVLQHTSNDPYCFVEFYEHRDAAAALAAMNGRKILGKEVKVNWATTPSS
QKKDTSNHFHVFVGDLSPEITTEDIKSAFAPFGKISDARVVKDMATGKSKGYGFVSFYNKLDAENAIVHMGGQWLGGRQIRTNWATRKPPAPKSTQENNTKQLRF
EDVVNQSSPKNCTVYCGGIASGLTDQLMRQTFSPFGQIMEIRVFPEKGYSFVRFSTHESAAHAIVSVNGTTIEGHVVKCYWGKESPDMTKNFQQVDYSQWGQWSQ
VYGNPQQYGQYMANGWQVPPYGVYGQPWNQQGFGVDQSPSAAWMGGFGAQPPQGQAPPPVIPPPNQAGYGMASYQTQ

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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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