Evidence Details for LIPT2
Basic Information Top
| Gene Symbol: | LIPT2 ( - ) |
|---|---|
| Gene Full Name: | lipoyl(octanoyl) transferase 2 (putative) |
| Band: | 11q13.4 |
| Quick Links | Entrez ID:387787; OMIM: NA; Uniprot ID:LIPT2_HUMAN; ENSEMBL ID: ENSG00000175536; HGNC ID: 37216 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>LIPT2|387787|nucleotide
ATGCGGCAACCCGCCGTTCGGTTGGTGCGCCTGGGTCGGGTGCCGTACGCCGAGCTACTGGGGCTGCAGGACCGCTGGCTGCGGCGGCTGCAGGCCGAGCCAGGC
ATTGAGGCCCCGTCGGGGACTGAGGCGGGCGCGCTCCTGCTCTGCGAGCCCGCGGGGCCCGTGTATACGGCCGGGCTGCGCGGCGGCCTGACGCCCGAGGAAACT
GCGCGGCTACGGGCCTTGGGCGCCGAGGTGCGCGTCACAGGCCGCGGTGGCCTGGCCACCTTCCACGGCCCGGGCCAGCTGCTTTGCCACCCGGTACTCGACCTG
CGGCGTCTCGGCCTGCGCTTGCGCATGCACGTAGCGTCGCTGGAGGCGTGCGCCGTGCGCCTGTGCGAGCTCCAGGGCCTGCAGGACGCCCGCGCGCGGCCCCCG
CCCTACACTGGCGTCTGGCTAGACGATCGCAAGATCTGCGCGATCGGAGTCCGCTGTGGAAGGCACATCACATCCCACGGCCTGGCTCTCAACTGCTCTACCGAC
CTCACGTGGTTTGAGCACATCGTGCCCTGTGGACTGGTTGGGACAGGCGTCACTTCCTTGAGTAAGGAGCTCCAGAGGCACGTCACCGTGGAAGAAGTAATGCCA
CCTTTCCTTGTGGCCTTTAAGGAGATCTACAAGTGCACACTGATCTCAGAGGACAGCCCCAACTGA
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ATGCGGCAACCCGCCGTTCGGTTGGTGCGCCTGGGTCGGGTGCCGTACGCCGAGCTACTGGGGCTGCAGGACCGCTGGCTGCGGCGGCTGCAGGCCGAGCCAGGC
ATTGAGGCCCCGTCGGGGACTGAGGCGGGCGCGCTCCTGCTCTGCGAGCCCGCGGGGCCCGTGTATACGGCCGGGCTGCGCGGCGGCCTGACGCCCGAGGAAACT
GCGCGGCTACGGGCCTTGGGCGCCGAGGTGCGCGTCACAGGCCGCGGTGGCCTGGCCACCTTCCACGGCCCGGGCCAGCTGCTTTGCCACCCGGTACTCGACCTG
CGGCGTCTCGGCCTGCGCTTGCGCATGCACGTAGCGTCGCTGGAGGCGTGCGCCGTGCGCCTGTGCGAGCTCCAGGGCCTGCAGGACGCCCGCGCGCGGCCCCCG
CCCTACACTGGCGTCTGGCTAGACGATCGCAAGATCTGCGCGATCGGAGTCCGCTGTGGAAGGCACATCACATCCCACGGCCTGGCTCTCAACTGCTCTACCGAC
CTCACGTGGTTTGAGCACATCGTGCCCTGTGGACTGGTTGGGACAGGCGTCACTTCCTTGAGTAAGGAGCTCCAGAGGCACGTCACCGTGGAAGAAGTAATGCCA
CCTTTCCTTGTGGCCTTTAAGGAGATCTACAAGTGCACACTGATCTCAGAGGACAGCCCCAACTGA
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>LIPT2|387787|protein
MRQPAVRLVRLGRVPYAELLGLQDRWLRRLQAEPGIEAPSGTEAGALLLCEPAGPVYTAGLRGGLTPEETARLRALGAEVRVTGRGGLATFHGPGQLLCHPVLDL
RRLGLRLRMHVASLEACAVRLCELQGLQDARARPPPYTGVWLDDRKICAIGVRCGRHITSHGLALNCSTDLTWFEHIVPCGLVGTGVTSLSKELQRHVTVEEVMP
PFLVAFKEIYKCTLISEDSPN
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MRQPAVRLVRLGRVPYAELLGLQDRWLRRLQAEPGIEAPSGTEAGALLLCEPAGPVYTAGLRGGLTPEETARLRALGAEVRVTGRGGLATFHGPGQLLCHPVLDL
RRLGLRLRMHVASLEACAVRLCELQGLQDARARPPPYTGVWLDDRKICAIGVRCGRHITSHGLALNCSTDLTWFEHIVPCGLVGTGVTSLSKELQRHVTVEEVMP
PFLVAFKEIYKCTLISEDSPN
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
Linkage Studies Top