AutismKB 2.0

Evidence Details for ARPC4-TTLL3


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Basic Information Top
Gene Symbol:ARPC4-TTLL3 ( )
Gene Full Name:
Band: 3p25.3
Quick LinksEntrez ID:100526693; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000250151; HGNC ID: 38830
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>|100526693|nucleotide
ATGACTGCCACTCTCCGCCCCTACCTGAGTGCCGTGCGGGCCACATTGCAGGCTGCCCTCTGCCTGGAGAACTTCTCCTCCCAGGTTGTGGAACGACACAACAAG
CCGGAAGTGGAAGTCAGGAGTAGCAAAGAGCTCCTGTTACAACCTGTGACCATCAGCAGGAATGAGAAGGAAAAGGTTCTGATTGAGGGCTCCATCAACTCTGTC
CGGGTCAGCATTGCTGTGAAACAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGA
AGGAAGCCTGTGGAGCAGAAGAAGATCTTTACAATCCAAGGCTGCTACCCGGTGATCCGGTGTCTCTTGCGCCGGAGGGGCTGGGTGGAGAAGAAGATGGTCCAT
CGCTCAGGCCCCACCCTGCTGCCACCCCAGAAGGATCTGGATAGCTCAGCGATGGGTGACAGTGACACCACTGAGGATGAGGATGAAGATGAGGACGAGGAGTTC
CAGCCATCACAGCTGTTCGACTTCGATGATTTACTGAAATTTGATGACCTAGATGGAACACATGCTCTGATGGTGGGTCTATGTCTCAATCTCCGGAATTTGCCG
TGGTTTGATGAGGTTGATGCCAACTCCTTCTTCCCACGCTGCTACTGCCTGGGGGCTGAGGATGACAAAAAAGCCTTCATAGGAGACAAGCAGCCCAAGAAACAG
GAGAAAAACCCAGTGTTGGTGTCCCCAGAGTTTGTGGATGAAGCTCTGTGTGCGTGCGAGGAGTACCTTAGCAACTTGGCCCACATGGACATCGACAAGGACCTG
GAGGCCCCGCTGTACCTCACCCCCGAGGGCTGGTCCCTCTTCCTCCAGCGCTACTACCAAGTGGTCCACGAAGGGGCAGAACTCAGGCACCTCGACACTCAGGTC
CAGCGCTGTGAGGACATCCTGCAGCAGCTGCAGGCCGTGGTACCCCAGATAGACATGGAAGGGGATCGCAACATCTGGATCGTGAAGCCAGGAGCCAAGTCCCGC
GGACGAGGCATCATGTGCATGGACCACCTGGAGGAGATGCTGAAGCTGGTGAACGGCAACCCCGTGGTGATGAAGGACGGCAAGTGGGTGGTGCAGAAGTATATT
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>|100526693|protein
MTATLRPYLSAVRATLQAALCLENFSSQVVERHNKPEVEVRSSKELLLQPVTISRNEKEKVLIEGSINSVRVSIAVKQADEIEKILCHKFMRFMMMRAENFFILR
RKPVEQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEEFQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLP
WFDEVDANSFFPRCYCLGAEDDKKAFIGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQV
QRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYI
RFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQ
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
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