AutismKB 2.0

Evidence Details for CTAGE5


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Basic Information Top
Gene Symbol:CTAGE5 ( MEA6,MGEA,MGEA11,MGEA6 )
Gene Full Name: CTAGE family, member 5
Band: 14q21.1
Quick LinksEntrez ID:4253; OMIM: 602132; Uniprot ID:CTGE5_HUMAN; ENSEMBL ID: ENSG00000150527; HGNC ID: 7057
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CTAGE5|4253|nucleotide
ATGGAGGAGCCCGGGGTTACCCCTCAACCGTATTTGGGGCTGCTCCTGGAGGAGCTACGCAGGGTTGTGGCAGCACTGCCTGAAGGTATGAGACCAGATTCTAAT
CTTTATGGTTTTCCATGGGAATTGGTGATATGTGCAGCTGTTGTTGGATTTTTTGCTGTTCTCTTTTTTTTGTGGAGAAGTTTTAGATCGGTTAGGAGTCGGCTT
TATGTGGGACGAGAGAAAAAGCTTGCTCTAATGCTTTCTGGACTAATTGAAGAAAAAAGTAAACTACTTGAAAAATTTAGCCTTGTTCAAAAAGAGTATGAAGGC
TATGAAGTAGAGTCATCTTTAAAGGATGCCAGCTTTGAGAAGGAGGCAACAGAAGCACAAAGTTTGGAGGCAACCTGTGAAAAGCTGAACAGGTCCAATTCTGAA
CTTGAGGATGAAATACTCTGTCTAGAAAAAGAGTTAAAAGAAGAGAAATCCAAACATTCTGAACAAGATGAATTGATGGCGGATATTTCAAAAAGGATACAGTCT
CTAGAAGATGAGTCAAAATCCCTCAAATCACAAGTAGCTGAAGCCAAAATGACCTTCAAGATATTTCAAATGAATGAAGAACGACTGAAGATAGCAATAAAAGAT
GCTTTGAATGAAAATTCTCAACTTCAGGAAAGCCAGAAACAGCTTTTGCAAGAAGCTGAAGTATGGAAAGAACAAGTGAGTGAACTTAATAAACAGAAAGTAACA
TTTGAAGACTCCAAAGTACATGCAGAACAAGTTCTAAATGATAAAGAAAGTCACATCAAGACTCTGACTGAACGCTTGTTAAAGATGAAAGATTGGGCTGCTATG
CTTGGAGAAGACATAACGGATGATGATAACTTGGAATTAGAAATGAACAGTGAATCGGAAAATGGTGCTTACTTAGATAATCCTCCAAAAGGAGCTTTGAAGAAA
CTGATTCATGCTGCTAAGTTAAATGCTTCTTTAAAAACCTTAGAAGGAGAAAGAAACCAAATTTATATTCAGTTGTCTGAAGTTGATAAAACAAAGGAAGAGCTT
ACAGAGCATATTAAAAATCTTCAGACTGAACAAGCATCTTTGCAGTCAGAAAACACACATTTTGAAAATGAGAATCAGAAGCTTCAACAGAAACTTAAAGTAATG
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>CTAGE5|4253|protein
MEEPGVTPQPYLGLLLEELRRVVAALPEGMRPDSNLYGFPWELVICAAVVGFFAVLFFLWRSFRSVRSRLYVGREKKLALMLSGLIEEKSKLLEKFSLVQKEYEG
YEVESSLKDASFEKEATEAQSLEATCEKLNRSNSELEDEILCLEKELKEEKSKHSEQDELMADISKRIQSLEDESKSLKSQVAEAKMTFKIFQMNEERLKIAIKD
ALNENSQLQESQKQLLQEAEVWKEQVSELNKQKVTFEDSKVHAEQVLNDKESHIKTLTERLLKMKDWAAMLGEDITDDDNLELEMNSESENGAYLDNPPKGALKK
LIHAAKLNASLKTLEGERNQIYIQLSEVDKTKEELTEHIKNLQTEQASLQSENTHFENENQKLQQKLKVMTELYQENEMKLHRKLTVEENYRLEKEEKLSKVDEK
ISHATEELETYRKRAKDLEEELERTIHSYQGQIISHEKKAHDNWLAARNAERNLNDLRKENAHNRQKLTETELKFELLEKDPYALDVPNTAFGREHSPYGPSPLG
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
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
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