AutismKB 2.0

Evidence Details for NTRK3


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Basic Information Top
Gene Symbol:NTRK3 ( TRKC,gp145(trkC) )
Gene Full Name: neurotrophic tyrosine kinase, receptor, type 3
Band: 15q25.3
Quick LinksEntrez ID:4916; OMIM: 191316; Uniprot ID:NTRK3_HUMAN; ENSEMBL ID: ENSG00000140538; HGNC ID: 8033
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NTRK3|4916|nucleotide
ATGGATGTCTCTCTTTGCCCAGCCAAGTGTAGTTTCTGGCGGATTTTCTTGCTGGGAAGCGTCTGGCTGGACTATGTGGGCTCCGTGCTGGCTTGCCCTGCAAAT
TGTGTCTGCAGCAAGACTGAGATCAATTGCCGGCGGCCGGACGATGGGAACCTCTTCCCCCTCCTGGAAGGGCAGGATTCAGGGAACAGCAATGGGAACGCCAGT
ATCAACATCACGGACATCTCAAGGAATATCACTTCCATACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTT
CAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACC
ACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAG
GAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCT
GAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAATGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTC
ACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTC
ACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTG
CGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTG
GAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGC
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>NTRK3|4916|protein
MDVSLCPAKCSFWRIFLLGSVWLDYVGSVLACPANCVCSKTEINCRRPDDGNLFPLLEGQDSGNSNGNASINITDISRNITSIHIENWRSLHTLNAVDMELYTGL
QKLTIKNSGLRSIQPRAFAKNPHLRYINLSSNRLTTLSWQLFQTLSLRELQLEQNFFNCSCDIRWMQLWQEQGEAKLNSQNLYCINADGSQLPLFRMNISQCDLP
EISVSHVNLTVREGDNAVITCNGSGSPLPDVDWIVTGLQSINTHQTNLNWTNVHAINLTLVNVTSEDNGFTLTCIAENVVGMSNASVALTVYYPPRVVSLEEPEL
RLEHCIEFVVRGNPPPTLHWLHNGQPLRESKIIHVEYYQEGEISEGCLLFNKPTHYNNGNYTLIAKNPLGTANQTINGHFLKEPFPESTDNFILFDEVSPTPPIT
VTHKPEEDTFGVSIAVGLAAFACVLLVVLFVMINKYGRRSKFGMKGPVAVISGEEDSASPLHHINHGITTPSSLDAGPDTVVIGMTRIPVIENPQYFRQGHNCHK
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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) 1 (2) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 6 (5)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 2
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Chakraharti, 2011_1 UK -AS 23.2±14.6
-
- 155
(-)
-
-
Toma, 2012_1 Spanish SNPlex ASD 17
-
- 350
(16.86%)
-
-
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
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.

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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