AutismKB 2.0

Evidence Details for LETM2


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Basic Information Top
Gene Symbol:LETM2 ( FLJ25409 )
Gene Full Name: leucine zipper-EF-hand containing transmembrane protein 2
Band: 8p11.23
Quick LinksEntrez ID:137994; OMIM: NA; Uniprot ID:LETM2_HUMAN; ENSEMBL ID: ENSG00000165046; HGNC ID: 14648
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LETM2|137994|nucleotide
ATGAAGAACTATGAGAGCAAGAAGTACTCGGATCCTAGTCAGCCAGGCAATACAGTACTTCACCCAGGAACTAGACTAATACAAAAGCTACACACATCCACTTGC
TGGCTGCAAGAAGTTCCTGGCAAACCTCAGCTGGAGCAAGCCACAAAACATCCACAGGTGACAAGCCCTCAGGCCACAAAAGAAACTGGCATGGAGATTAAAGAA
GGCAAACAATCTTATAGACAAAAAATCATGGATGAACTAAAATATTATTACAATGGATTCTACTTACTTTGGATTGACGCCAAAGTTGCTGCCAGAATGGTTTGG
AGGCTGTTGCATGGACAGGTCCTGACCAGACGAGAGAGACGAAGGCTGTTGAGAACTTGTGTTGATTTCTTCCGCCTGGTTCCATTTATGGTGTTCTTAATTGTA
CCCTTCATGGAATTCTTATTACCAGTGTTTCTGAAACTCTTCCCAGAGATGTTGCCATCAACTTTTGAAAGTGAATCCAAAAAGGAAGAAAAACAGAAAAAGAAA
ATGGCTGTAAAGTTGGAACTAGCAAAATTTCTTCAAGAAACCATGACAGAAATGGCAAGGAGGAACAGAGCCAAGATGGGCGATGCCTCTACACAGCTCTCATCC
TACGTGAAGCAGGTCCAGACAGGCCACAAGCCCAGCACAAAGGAGATAGTTCGCTTCTCCAAACTATTTGAGGACCAGCTGGCCCTGGAACACTTAGATCGCCCT
CAGCTGGTTGCCCTTTGCAAACTGCTGGAATTGCAGACATTTGGAACCAACAACCTGCTCCGCTTTCAGCTCCTGATGAAACTGAAGTCTATAAAAGCAGATGAT
GAAATAATTGCCAAGGAAGGGGTGACAGCATTGAGTGTATCAGAACTACAGGCTGCCTGTAGGGCCCGAGGGATGAGATCACTGGGTCTCACGGAGGAACAACTG
CGACAACAGCTCACGGAGTGGCAGGACCTCCACCTGAAGGAGAACGTCCCTCCTTCCCTTTTGCTCCTGTCCCGCACCTTCTACCTGATAGATGTGAAGCCCAAG
CCGATTGAGATACCACTCAGTGGGGAGGCTCCAAAGACTGATATTCTTGTGGAATTACCTACTTTCACTGAATCTAAAGAGAACATGGTGGATCTTGCACCTCAA
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>LETM2|137994|protein
MKNYESKKYSDPSQPGNTVLHPGTRLIQKLHTSTCWLQEVPGKPQLEQATKHPQVTSPQATKETGMEIKEGKQSYRQKIMDELKYYYNGFYLLWIDAKVAARMVW
RLLHGQVLTRRERRRLLRTCVDFFRLVPFMVFLIVPFMEFLLPVFLKLFPEMLPSTFESESKKEEKQKKKMAVKLELAKFLQETMTEMARRNRAKMGDASTQLSS
YVKQVQTGHKPSTKEIVRFSKLFEDQLALEHLDRPQLVALCKLLELQTFGTNNLLRFQLLMKLKSIKADDEIIAKEGVTALSVSELQAACRARGMRSLGLTEEQL
RQQLTEWQDLHLKENVPPSLLLLSRTFYLIDVKPKPIEIPLSGEAPKTDILVELPTFTESKENMVDLAPQLKGTKDEDFIQPPPVTSSPITPSTPISLPKGPITS
SEEPTLQAKSQMTAQNSKASSKGA
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (2)
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
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.

Simple Query:


  (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