Evidence Details for LETM2
Basic Information Top
Gene Symbol: | LETM2 ( FLJ25409 ) |
---|---|
Gene Full Name: | leucine zipper-EF-hand containing transmembrane protein 2 |
Band: | 8p11.23 |
Quick Links | Entrez 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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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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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 | aCGH | ASD | - | - | - | - | 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
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