AutismKB 2.0

Evidence Details for TATDN2


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Basic Information Top
Gene Symbol:TATDN2 ( KIAA0218,MGC126819,MGC126825 )
Gene Full Name: TatD DNase domain containing 2
Band: 3p25.3
Quick LinksEntrez ID:9797; OMIM: NA; Uniprot ID:TATD2_HUMAN; ENSEMBL ID: ENSG00000157014; HGNC ID: 28988
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TATDN2|9797|nucleotide
ATGGCGTCCGAGCGGGGCAAGGTCAAGCACAACTGGAGCAGCACGTCGGAAGGGTGTCCCCGCAAGCGCAGCTGCCTCCGGGAGCCCTGTGATGTGGCCCCCTCC
AGCCGGCCAGCTCAGAGGTCTGCGTCGCGTTCTGGAGGGCCCAGCAGCCCCAAGCGCCTGAAAGCCCAGAAGGAGGACGATGTGGCTTGCTCGCGGAGGTTATCC
TGGGGCTCATCCCGCCGCAGAAATAACTCCTCCTCCTCCTTCTCCCCACATTTCTTGGGCCCTGGTGTGGGCGGGGCCGCCTCCAAAGGCTGCCTGATTCGGAAC
ACTCGGGGGTTCCTGTCTTCAGGGGGATCCCCTCTGCGTCCTGCCAACGCCTCTTTGGAAGAAATGGCTTCTCTAGAGGAGGAAGCCTGCAGCCTTAAGGTTGAT
TCCAAAGATAGTTCTCATAACTCCACAAACTCTGAATTTGCAGCTGAAGCTGAGGGTCAGAATGATACAATTGAGGAACCCAACAAGGTCCAGAAAAGGAAGAGG
GATAGACTTCGAGACCAGGGCTCCACAATGATCTACCTGAAGGCTATCCAGGGCATCCTGGGGAAATCGATGCCAAAAAGGAAGGGAGAGGCTGCCACTCGGGCA
AAACCAAGCGCAGCAGAGCATCCCAGCCATGGAGAAGGACCAGCCAGGAGTGAAGGACCAGCCAAGACTGCAGAAGGAGCAGCCAGGAGTGTCACAGTCACTGCT
GCTCAGAAGGAGAAAGACGCAACCCCAGAGGTCAGCATGGAGGAGGATAAGACAGTGCCAGAGAGGAGCAGCTTCTATGACAGGAGAGTAGTTATAGACCCTCAA
GAGAAACCCAGTGAGGAGCCCCTTGGGGACCGAAGGACTGTCATTGACAAATGCTCTCCACCCCTAGAGTTCTTGGATGACTCTGACTCTCATTTAGAAATCCAA
AAGCATAAAGATAGGGAGGTGGTGATGGAGCACCCCTCTTCTGGAAGTGACTGGTCTGATGTTGAGGAGATCTCCACAGTCAGATTCTCTCAGGAGGAACCTGTC
TCCCTGAAACCTTCAGCCGTTCCGGAGCCTTCTTCCTTCACCACCGACTATGTCATGTACCCTCCTCATTTGTACAGTAGTCCTTGGTGTGACTACGCCAGCTAT
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>TATDN2|9797|protein
MASERGKVKHNWSSTSEGCPRKRSCLREPCDVAPSSRPAQRSASRSGGPSSPKRLKAQKEDDVACSRRLSWGSSRRRNNSSSSFSPHFLGPGVGGAASKGCLIRN
TRGFLSSGGSPLRPANASLEEMASLEEEACSLKVDSKDSSHNSTNSEFAAEAEGQNDTIEEPNKVQKRKRDRLRDQGSTMIYLKAIQGILGKSMPKRKGEAATRA
KPSAAEHPSHGEGPARSEGPAKTAEGAARSVTVTAAQKEKDATPEVSMEEDKTVPERSSFYDRRVVIDPQEKPSEEPLGDRRTVIDKCSPPLEFLDDSDSHLEIQ
KHKDREVVMEHPSSGSDWSDVEEISTVRFSQEEPVSLKPSAVPEPSSFTTDYVMYPPHLYSSPWCDYASYWTSSPKPSSYPSTGSSSNDAAQVGKSSRSRMSDYS
PNSTGSVQNTSRDMEASEEGWSQNSRSFRFSRSSEEREVKEKRTFQEEMPPRPCGGHASSSLPKSHLEPSLEEGFIDTHCHLDMLYSKLSFQGTFTKFRKIYSSS
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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 1 (1) 0 (0) 1 (3) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 16 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
MIXED/OTHERS
Anney RJL, 2017_3 replication 1369
(-)
ASD -
-
- 137308
(-)
-
-
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
Shao, 2002 USA microsatellite-based genomic screenautism 52 - 52 - 112 - -
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
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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