AutismKB 2.0

Evidence Details for IFIT3


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Basic Information Top
Gene Symbol:IFIT3 ( CIG-49,GARG-49,IFI60,IFIT4,IRG2,ISG60,RIG-G )
Gene Full Name: interferon-induced protein with tetratricopeptide repeats 3
Band: 10q23.31
Quick LinksEntrez ID:3437; OMIM: 604650; Uniprot ID:IFIT3_HUMAN; ENSEMBL ID: ENSG00000119917; HGNC ID: 5411
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IFIT3|3437|nucleotide
ATGAGTGAGGTCACCAAGAATTCCCTGGAGAAAATCCTTCCACAGCTGAAATGCCATTTCACCTGGAACTTATTCAAGGAAGACAGTGTCTCAAGGGATCTAGAA
GATAGAGTGTGTAACCAGATTGAATTTTTAAACACTGAGTTCAAAGCTACAATGTACAACTTGTTGGCCTACATAAAACACCTAGATGGTAACAACGAGGCAGCC
CTGGAATGCTTACGGCAAGCTGAAGAGTTAATCCAGCAAGAACATGCTGACCAAGCAGAAATCAGAAGTCTAGTCACTTGGGGAAACTACGCCTGGGTCTACTAT
CACTTGGGCAGACTCTCAGATGCTCAGATTTATGTAGATAAGGTGAAACAAACCTGCAAGAAATTTTCAAATCCATACAGTATTGAGTATTCTGAACTTGACTGT
GAGGAAGGGTGGACACAACTGAAGTGTGGAAGAAATGAAAGGGCGAAGGTGTGTTTTGAGAAGGCTCTGGAAGAAAAGCCCAACAACCCAGAATTCTCCTCTGGA
CTGGCAATTGCGATGTACCATCTGGATAATCACCCAGAGAAACAGTTCTCTACTGATGTTTTGAAGCAGGCCATTGAGCTGAGTCCTGATAACCAATACGTCAAG
GTTCTCTTGGGCCTGAAACTGCAGAAGATGAATAAAGAAGCTGAAGGAGAGCAGTTTGTTGAAGAAGCCTTGGAAAAGTCTCCTTGCCAAACAGATGTCCTCCGC
AGTGCAGCCAAATTTTACAGAAGAAAAGGTGACCTAGACAAAGCTATTGAACTGTTTCAACGGGTGTTGGAATCCACACCAAACAATGGCTACCTCTATCACCAG
ATTGGGTGCTGCTACAAGGCAAAAGTAAGACAAATGCAGAATACAGGAGAATCTGAAGCTAGTGGAAATAAAGAGATGATTGAAGCACTAAAGCAATATGCTATG
GACTATTCGAATAAAGCTCTTGAGAAGGGACTGAATCCTCTGAATGCATACTCCGATCTCGCTGAGTTCCTGGAGACGGAATGTTATCAGACACCATTCAATAAG
GAAGTCCCTGATGCTGAAAAGCAACAATCCCATCAGCGCTACTGCAACCTTCAGAAATATAATGGGAAGTCTGAAGACACTGCTGTGCAACATGGTTTAGAGGGT
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>IFIT3|3437|protein
MSEVTKNSLEKILPQLKCHFTWNLFKEDSVSRDLEDRVCNQIEFLNTEFKATMYNLLAYIKHLDGNNEAALECLRQAEELIQQEHADQAEIRSLVTWGNYAWVYY
HLGRLSDAQIYVDKVKQTCKKFSNPYSIEYSELDCEEGWTQLKCGRNERAKVCFEKALEEKPNNPEFSSGLAIAMYHLDNHPEKQFSTDVLKQAIELSPDNQYVK
VLLGLKLQKMNKEAEGEQFVEEALEKSPCQTDVLRSAAKFYRRKGDLDKAIELFQRVLESTPNNGYLYHQIGCCYKAKVRQMQNTGESEASGNKEMIEALKQYAM
DYSNKALEKGLNPLNAYSDLAEFLETECYQTPFNKEVPDAEKQQSHQRYCNLQKYNGKSEDTAVQHGLEGLSISKKSTDKEEIKDQPQNVSENLLPQNAPNYWYL
QGLIHKQNGDLLQAAKCYEKELGRLLRDAPSGIGSIFLSASELEDGSEEMGQGAVSSSPRELLSNSEQLN
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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) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
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
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 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.21 Up 0.129
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_2239754
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
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