Evidence Details for LEPR
Basic Information Top
| Gene Symbol: | LEPR ( CD295,DKFZp686B1731,OBR ) |
|---|---|
| Gene Full Name: | leptin receptor |
| Band: | 1p31.3 |
| Quick Links | Entrez ID:3953; OMIM: 601007; Uniprot ID:LEPR_HUMAN; ENSEMBL ID: ENSG00000116678; HGNC ID: 6554 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>LEPR|3953|nucleotide
ATGATTTGTCAAAAATTCTGTGTGGTTTTGTTACATTGGGAATTTATTTATGTGATAACTGCGTTTAACTTGTCATATCCAATTACTCCTTGGAGATTTAAGTTG
TCTTGCATGCCACCAAATTCAACCTATGACTACTTCCTTTTGCCTGCTGGACTCTCAAAGAATACTTCAAATTCGAATGGACATTATGAGACAGCTGTTGAACCT
AAGTTTAATTCAAGTGGTACTCACTTTTCTAACTTATCCAAAACAACTTTCCACTGTTGCTTTCGGAGTGAGCAAGATAGAAACTGCTCCTTATGTGCAGACAAC
ATTGAAGGAAAGACATTTGTTTCAACAGTAAATTCTTTAGTTTTTCAACAAATAGATGCAAACTGGAACATACAGTGCTGGCTAAAAGGAGACTTAAAATTATTC
ATCTGTTATGTGGAGTCATTATTTAAGAATCTATTCAGGAATTATAACTATAAGGTCCATCTTTTATATGTTCTGCCTGAAGTGTTAGAAGATTCACCTCTGGTT
CCCCAAAAAGGCAGTTTTCAGATGGTTCACTGCAATTGCAGTGTTCATGAATGTTGTGAATGTCTTGTGCCTGTGCCAACAGCCAAACTCAACGACACTCTCCTT
ATGTGTTTGAAAATCACATCTGGTGGAGTAATTTTCCAGTCACCTCTAATGTCAGTTCAGCCCATAAATATGGTGAAGCCTGATCCACCATTAGGTTTGCATATG
GAAATCACAGATGATGGTAATTTAAAGATTTCTTGGTCCAGCCCACCATTGGTACCATTTCCACTTCAATATCAAGTGAAATATTCAGAGAATTCTACAACAGTT
ATCAGAGAAGCTGACAAGATTGTCTCAGCTACATCCCTGCTAGTAGACAGTATACTTCCTGGGTCTTCGTATGAGGTTCAGGTGAGGGGCAAGAGACTGGATGGC
CCAGGAATCTGGAGTGACTGGAGTACTCCTCGTGTCTTTACCACACAAGATGTCATATACTTTCCACCTAAAATTCTGACAAGTGTTGGGTCTAATGTTTCTTTT
CACTGCATCTATAAGAAGGAAAACAAGATTGTTCCCTCAAAAGAGATTGTTTGGTGGATGAATTTAGCTGAGAAAATTCCTCAAAGCCAGTATGATGTTGTGAGT
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ATGATTTGTCAAAAATTCTGTGTGGTTTTGTTACATTGGGAATTTATTTATGTGATAACTGCGTTTAACTTGTCATATCCAATTACTCCTTGGAGATTTAAGTTG
TCTTGCATGCCACCAAATTCAACCTATGACTACTTCCTTTTGCCTGCTGGACTCTCAAAGAATACTTCAAATTCGAATGGACATTATGAGACAGCTGTTGAACCT
AAGTTTAATTCAAGTGGTACTCACTTTTCTAACTTATCCAAAACAACTTTCCACTGTTGCTTTCGGAGTGAGCAAGATAGAAACTGCTCCTTATGTGCAGACAAC
ATTGAAGGAAAGACATTTGTTTCAACAGTAAATTCTTTAGTTTTTCAACAAATAGATGCAAACTGGAACATACAGTGCTGGCTAAAAGGAGACTTAAAATTATTC
ATCTGTTATGTGGAGTCATTATTTAAGAATCTATTCAGGAATTATAACTATAAGGTCCATCTTTTATATGTTCTGCCTGAAGTGTTAGAAGATTCACCTCTGGTT
CCCCAAAAAGGCAGTTTTCAGATGGTTCACTGCAATTGCAGTGTTCATGAATGTTGTGAATGTCTTGTGCCTGTGCCAACAGCCAAACTCAACGACACTCTCCTT
ATGTGTTTGAAAATCACATCTGGTGGAGTAATTTTCCAGTCACCTCTAATGTCAGTTCAGCCCATAAATATGGTGAAGCCTGATCCACCATTAGGTTTGCATATG
GAAATCACAGATGATGGTAATTTAAAGATTTCTTGGTCCAGCCCACCATTGGTACCATTTCCACTTCAATATCAAGTGAAATATTCAGAGAATTCTACAACAGTT
ATCAGAGAAGCTGACAAGATTGTCTCAGCTACATCCCTGCTAGTAGACAGTATACTTCCTGGGTCTTCGTATGAGGTTCAGGTGAGGGGCAAGAGACTGGATGGC
CCAGGAATCTGGAGTGACTGGAGTACTCCTCGTGTCTTTACCACACAAGATGTCATATACTTTCCACCTAAAATTCTGACAAGTGTTGGGTCTAATGTTTCTTTT
CACTGCATCTATAAGAAGGAAAACAAGATTGTTCCCTCAAAAGAGATTGTTTGGTGGATGAATTTAGCTGAGAAAATTCCTCAAAGCCAGTATGATGTTGTGAGT
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>LEPR|3953|protein
MICQKFCVVLLHWEFIYVITAFNLSYPITPWRFKLSCMPPNSTYDYFLLPAGLSKNTSNSNGHYETAVEPKFNSSGTHFSNLSKTTFHCCFRSEQDRNCSLCADN
IEGKTFVSTVNSLVFQQIDANWNIQCWLKGDLKLFICYVESLFKNLFRNYNYKVHLLYVLPEVLEDSPLVPQKGSFQMVHCNCSVHECCECLVPVPTAKLNDTLL
MCLKITSGGVIFQSPLMSVQPINMVKPDPPLGLHMEITDDGNLKISWSSPPLVPFPLQYQVKYSENSTTVIREADKIVSATSLLVDSILPGSSYEVQVRGKRLDG
PGIWSDWSTPRVFTTQDVIYFPPKILTSVGSNVSFHCIYKKENKIVPSKEIVWWMNLAEKIPQSQYDVVSDHVSKVTFFNLNETKPRGKFTYDAVYCCNEHECHH
RYAELYVIDVNINISCETDGYLTKMTCRWSTSTIQSLAESTLQLRYHRSSLYCSDIPSIHPISEPKDCYLQSDGFYECIFQPIFLLSGYTMWIRINHSLGSLDSP
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MICQKFCVVLLHWEFIYVITAFNLSYPITPWRFKLSCMPPNSTYDYFLLPAGLSKNTSNSNGHYETAVEPKFNSSGTHFSNLSKTTFHCCFRSEQDRNCSLCADN
IEGKTFVSTVNSLVFQQIDANWNIQCWLKGDLKLFICYVESLFKNLFRNYNYKVHLLYVLPEVLEDSPLVPQKGSFQMVHCNCSVHECCECLVPVPTAKLNDTLL
MCLKITSGGVIFQSPLMSVQPINMVKPDPPLGLHMEITDDGNLKISWSSPPLVPFPLQYQVKYSENSTTVIREADKIVSATSLLVDSILPGSSYEVQVRGKRLDG
PGIWSDWSTPRVFTTQDVIYFPPKILTSVGSNVSFHCIYKKENKIVPSKEIVWWMNLAEKIPQSQYDVVSDHVSKVTFFNLNETKPRGKFTYDAVYCCNEHECHH
RYAELYVIDVNINISCETDGYLTKMTCRWSTSTIQSLAESTLQLRYHRSSLYCSDIPSIHPISEPKDCYLQSDGFYECIFQPIFLLSGYTMWIRINHSLGSLDSP
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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 | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 2
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| de Krom, 2008_1 | Discovery | the 1536 Golden Gate bead array of Illumina (Illumina, San Diego, California). | 144 (17.36%) | | | ASD | - (4-18) |
- | 404 (-) |
- - | ||
| de Krom, 2008_2 | Replication | Illumina 96 Golden Gate bead array | 128 (14.06%) | | | ASD | - (4-18) |
- | 273 (-) |
- - | ||
CNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.