AutismKB 2.0

Evidence Details for TRAPPC9


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Basic Information Top
Gene Symbol:TRAPPC9 ( IBP,IKBKBBP,KIAA1882,MGC4737,MGC4769,MRT13,NIBP,TRS120 )
Gene Full Name: trafficking protein particle complex 9
Band: 8q24.3
Quick LinksEntrez ID:83696; OMIM: 611966; Uniprot ID:TPPC9_HUMAN; ENSEMBL ID: ENSG00000167632; HGNC ID: 30832
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRAPPC9|83696|nucleotide
ATGAGCGTCCCTGACTACATGCAGTGTGCTGAGGACCACCAGACGCTGCTCGTGGTGGTCCAGCCTGTGGGCATCGTCTCCGAGGAGAACTTCTTCAGGATCTAT
AAGAGGATTTGCTCTGTGAGTCAGATCAGCGTGCGGGACTCCCAGCGAGTCCTCTACATCCGCTACAGGCACCACTACCCACCCGAGAACAACGAGTGGGGTGAC
TTCCAGACCCACCGCAAAGTCGTGGGCCTCATCACCATCACAGACTGCTTCTCGGCCAAGGACTGGCCACAGACCTTTGAGAAGTTCCACGTGCAGAAGGAGATC
TACGGCTCCACACTGTATGACTCCCGGCTCTTTGTCTTCGGGCTGCAGGGGGAGATCGTGGAGCAGCCGCGCACCGACGTGGCTTTCTACCCCAACTACGAGGAC
TGCCAGACGGTGGAGAAGAGAATCGAGGACTTCATCGAGTCACTGTTCATCGTGCTGGAGTCCAAGCGTCTGGACAGAGCCACAGACAAGTCTGGGGATAAGATC
CCCCTTCTCTGTGTCCCGTTTGAGAAAAAGGACTTTGTAGGACTGGACACAGACAGCAGACATTACAAGAAGCGGTGCCAAGGCCGCATGCGGAAGCACGTGGGG
GACCTGTGCCTGCAGGCAGGGATGCTGCAGGACTCCCTGGTGCATTACCACATGTCGGTGGAGCTGCTGCGTTCTGTGAATGACTTTCTGTGGCTTGGAGCTGCC
CTGGAAGGATTGTGTTCAGCTTCTGTCATCTATCACTATCCTGGTGGAACTGGTGGGAAGAGTGGAGCTCGGAGGTTCCAGGGCAGCACCCTTCCTGCTGAAGCA
GCCAATAGACACCGGCCAGGGGCACAGGAAGTTCTCATTGATCCAGGTGCCCTCACCACCAATGGCATCAACCCTGACACCAGTACTGAGATCGGACGTGCTAAG
AACTGCCTTAGCCCTGAAGACATAATTGACAAGTATAAAGAGGCGATTTCCTATTACAGCAAGTATAAGAATGCGGGAGTGATTGAGTTGGAAGCGTGCATCAAG
GCTGTACGTGTCCTTGCAATTCAGAAACGGAGCATGGAAGCATCAGAATTTCTTCAGAATGCAGTTTACATTAACCTTCGACAGCTTTCTGAGGAAGAGAAAATT
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>TRAPPC9|83696|protein
MSVPDYMQCAEDHQTLLVVVQPVGIVSEENFFRIYKRICSVSQISVRDSQRVLYIRYRHHYPPENNEWGDFQTHRKVVGLITITDCFSAKDWPQTFEKFHVQKEI
YGSTLYDSRLFVFGLQGEIVEQPRTDVAFYPNYEDCQTVEKRIEDFIESLFIVLESKRLDRATDKSGDKIPLLCVPFEKKDFVGLDTDSRHYKKRCQGRMRKHVG
DLCLQAGMLQDSLVHYHMSVELLRSVNDFLWLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEAANRHRPGAQEVLIDPGALTTNGINPDTSTEIGRAK
NCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIKAVRVLAIQKRSMEASEFLQNAVYINLRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQCVAPSI
AEPGWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWAAVQMRLLHELVYASRRMGNPALSVRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPG
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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 (3) 0 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (1) 0 (0) 10 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 3
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Salyakina, 2010_2 Replication Illumina HumanHap 550K BeadChip 110 -
(-)
AS -
(3-21)
-
>70
Salyakina, 2010_1 Discovery Illumina HumanHap 550K BeadChip 124 -
(-)
AS -
(3-21)
-
>70
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Kalsner L, 2018 - -ASD - - - 100 -
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