AutismKB 2.0

Evidence Details for TIGD2


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Basic Information Top
Gene Symbol:TIGD2 ( DKFZp667D1322 )
Gene Full Name: tigger transposable element derived 2
Band: 4q22.1
Quick LinksEntrez ID:166815; OMIM: 612973; Uniprot ID:TIGD2_HUMAN; ENSEMBL ID: ENSG00000180346; HGNC ID: 18333
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TIGD2|166815|nucleotide
ATGTTGGGGAAACGTAAGCGTGTGGTGTTGACAATTAAGGACAAGCTTGACATTATTAAGAAACTTGAGGAAGGCATCTCTTTCAAAAAACTTTCCGTGGTGTAC
GGAATTGGTGAATCCACAGTTCGTGATATTAAAAAGAACAAAGAAAGGATTATAAACTATGCAAACAGTTCAGATCCTACCAGTGGAGTATCCAAACGTAAATCT
ATGAAGTCATCAACATACGAGGAGCTTGATAGAGTTATGATAGAGTGGTTTAACCAACAGAAAACAGATGGGATTCCAGTGTCCGGAACGATTTGTGCAAAACAA
GCCAAGTTCTTTTTTGATGCTTTGGGAATGGAAGGTGATTTTAATGCATCGTCAGGCTGGCTAACTCGATTTAAGCAGCGCCATGGTATTCCAAAGGCTGCTGGT
AAAGGAACAAAATTAAAAGGAGATGAAACTGCTGCCAGAGAATTTTGTGGTAGCTTTCAGGAATTTGTTGAAAAAGAGAATCTACAACCAGAGCAAATTTATGGT
GCTGATCAAACTGGATTGTTTTGGAAATGTCTACCATCAAGGACATTAACTCTTGAAACTGACCAAAGTACTTCTGGGTGTAGGTCAAGCAGAGAGAGAATCATC
ATTATGTGTTGCGCAAATGCCACAGGTTTACACAAACTTAATCTTTGTGTTGTGGGGAAGGCCAAAAAGCCCCGAGCATTCAAAGGCACTGACCTTTCAAACCTT
CCTGTGACATATTACAGTCAAAAAGGTGCATGGATAGAACAGTCTGTTTTCAGACAGTGGTTTGAAAAGTACTTTGTGCCACAGGTACAGAAGCATTTGAAATCC
AAGGGACTTTTAGAAAAAGCAGTGCTTCTTTTAGATTTCCCCCCAGCACGTCCAAATGAAGAAATGTTGAGTTCAGATGATGGCAGAATAATTGTGAAGTATTTG
CCACCAAATGTCACAAGTCTGATTCAACCAATGAGCCAGGGAGTTCTAGCCACTGTAAAAAGATACTATCGAGCAGGACTTCTCCAGAAATACATGGATGAAGGA
AATGACCCAAAAATATTTTGGAAGAACTTGACAGTGTTGGATGCAATTTATGAAGTGTCAAGAGCTTGGAACATGGTAAAATCAAGTACCATAACCAAAGCATGG
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>TIGD2|166815|protein
MLGKRKRVVLTIKDKLDIIKKLEEGISFKKLSVVYGIGESTVRDIKKNKERIINYANSSDPTSGVSKRKSMKSSTYEELDRVMIEWFNQQKTDGIPVSGTICAKQ
AKFFFDALGMEGDFNASSGWLTRFKQRHGIPKAAGKGTKLKGDETAAREFCGSFQEFVEKENLQPEQIYGADQTGLFWKCLPSRTLTLETDQSTSGCRSSRERII
IMCCANATGLHKLNLCVVGKAKKPRAFKGTDLSNLPVTYYSQKGAWIEQSVFRQWFEKYFVPQVQKHLKSKGLLEKAVLLLDFPPARPNEEMLSSDDGRIIVKYL
PPNVTSLIQPMSQGVLATVKRYYRAGLLQKYMDEGNDPKIFWKNLTVLDAIYEVSRAWNMVKSSTITKAWKKLFPGNEENSGMNIDEGAILAANLATVLQNTEEC
EHVDIENIDQWFDSRSSDSSCQVLTDSESAEDQTKAAEQKPSSKSRKTELNPEKHISHKAALEWTENLLDYLEQQDDMLLSDKLVLRRLRTIIRKKQKIQNNKNH
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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 (1) 1 (1) 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
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
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