Evidence Details for LPIN1
Basic Information Top
| Gene Symbol: | LPIN1 ( DKFZp781P1796,KIAA0188,PAP1 ) |
|---|---|
| Gene Full Name: | lipin 1 |
| Band: | 2p25.1 |
| Quick Links | Entrez ID:23175; OMIM: 605518; Uniprot ID:LPIN1_HUMAN; ENSEMBL ID: ENSG00000134324; HGNC ID: 13345 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>LPIN1|23175|nucleotide
ATGAATTACGTGGGGCAGTTAGCCGGCCAGGTGTTTGTCACCGTGAAGGAGCTCTACAAGGGGCTGAATCCCGCCACACTCTCAGGGTGCATTGACATCATTGTC
ATCCGCCAGCCCAATGGAAACCTCCAATGCTCCCCTTTCCACGTCCGCTTTGGGAAGATGGGGGTCCTGCGCTCCCGAGAGAAAGTGGTTGACATAGAAATCAAT
GGGGAATCTGTGGATTTGCATATGAAATTGGGAGATAATGGAGAAGCATTTTTTGTTCAAGAAACAGATAATGATCAGGAAGTTATCCCTATGCACCTGGCCACC
TCCCCCATCCTGTCAGAAGGAGCTTCGAGAATGGAATGCCAGCTGAAAAGGGGCTCTGTGGACAGGATGAGAGGCCTGGACCCCAGCACGCCAGCCCAAGTGATC
GCTCCCAGCGAGACGCCGTCAAGCAGCTCTGTAGTAAAGAAGAGAAGAAAAAGGAGGAGAAAGTCACAGCTGGACAGCCTGAAGAGAGATGACAACATGAACACA
TCTGAGGATGAGGACATGTTCCCCATCGAGATGAGCTCGGATGAGGCCATGGAGCTGCTGGAGAGCAGCAGAACTCTTCCTAATGATATACCTCCATTCCAAGAT
GATATTCCTGAGGAAAACCTCTCCCTGGCTGTGATTTACCCTCAGTCAGCCTCATACCCTAATTCGGATAGAGAGTGGTCACCCACTCCCAGTCCTTCCGGTTCC
CGACCTTCAACACCTAAAAGTGATTCAGAATTGGTCAGCAAGTCCACGGAAAGGACAGGGCAGAAGAACCCAGAAATGCTTTGGCTGTGGGGAGAGCTGCCGCAG
GCTGCTAAGTCTTCTTCTCCACACAAGATGAAAGAGTCCAGCCCATTGAGCAGTAGAAAAATTTGTGATAAAAGTCACTTTCAGGCCATTCACAGCGAATCTTCA
GACACTTTTAGTGACCAATCGCCAACTCTGGTCGGTGGGGCACTTTTGGACCAGAACAAGCCTCAGACAGAAATGCAGTTTGTGAATGAAGAAGACCTGGAGACC
TTAGGAGCAGCAGCGCCACTCTTGCCCATGATCGAGGAGCTCAAACCCCCCTCTGCCAGTGTAGTCCAGACAGCAAACAAGACGGATTCTCCTTCCAGGAAAAGA
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ATGAATTACGTGGGGCAGTTAGCCGGCCAGGTGTTTGTCACCGTGAAGGAGCTCTACAAGGGGCTGAATCCCGCCACACTCTCAGGGTGCATTGACATCATTGTC
ATCCGCCAGCCCAATGGAAACCTCCAATGCTCCCCTTTCCACGTCCGCTTTGGGAAGATGGGGGTCCTGCGCTCCCGAGAGAAAGTGGTTGACATAGAAATCAAT
GGGGAATCTGTGGATTTGCATATGAAATTGGGAGATAATGGAGAAGCATTTTTTGTTCAAGAAACAGATAATGATCAGGAAGTTATCCCTATGCACCTGGCCACC
TCCCCCATCCTGTCAGAAGGAGCTTCGAGAATGGAATGCCAGCTGAAAAGGGGCTCTGTGGACAGGATGAGAGGCCTGGACCCCAGCACGCCAGCCCAAGTGATC
GCTCCCAGCGAGACGCCGTCAAGCAGCTCTGTAGTAAAGAAGAGAAGAAAAAGGAGGAGAAAGTCACAGCTGGACAGCCTGAAGAGAGATGACAACATGAACACA
TCTGAGGATGAGGACATGTTCCCCATCGAGATGAGCTCGGATGAGGCCATGGAGCTGCTGGAGAGCAGCAGAACTCTTCCTAATGATATACCTCCATTCCAAGAT
GATATTCCTGAGGAAAACCTCTCCCTGGCTGTGATTTACCCTCAGTCAGCCTCATACCCTAATTCGGATAGAGAGTGGTCACCCACTCCCAGTCCTTCCGGTTCC
CGACCTTCAACACCTAAAAGTGATTCAGAATTGGTCAGCAAGTCCACGGAAAGGACAGGGCAGAAGAACCCAGAAATGCTTTGGCTGTGGGGAGAGCTGCCGCAG
GCTGCTAAGTCTTCTTCTCCACACAAGATGAAAGAGTCCAGCCCATTGAGCAGTAGAAAAATTTGTGATAAAAGTCACTTTCAGGCCATTCACAGCGAATCTTCA
GACACTTTTAGTGACCAATCGCCAACTCTGGTCGGTGGGGCACTTTTGGACCAGAACAAGCCTCAGACAGAAATGCAGTTTGTGAATGAAGAAGACCTGGAGACC
TTAGGAGCAGCAGCGCCACTCTTGCCCATGATCGAGGAGCTCAAACCCCCCTCTGCCAGTGTAGTCCAGACAGCAAACAAGACGGATTCTCCTTCCAGGAAAAGA
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>LPIN1|23175|protein
MNYVGQLAGQVFVTVKELYKGLNPATLSGCIDIIVIRQPNGNLQCSPFHVRFGKMGVLRSREKVVDIEINGESVDLHMKLGDNGEAFFVQETDNDQEVIPMHLAT
SPILSEGASRMECQLKRGSVDRMRGLDPSTPAQVIAPSETPSSSSVVKKRRKRRRKSQLDSLKRDDNMNTSEDEDMFPIEMSSDEAMELLESSRTLPNDIPPFQD
DIPEENLSLAVIYPQSASYPNSDREWSPTPSPSGSRPSTPKSDSELVSKSTERTGQKNPEMLWLWGELPQAAKSSSPHKMKESSPLSSRKICDKSHFQAIHSESS
DTFSDQSPTLVGGALLDQNKPQTEMQFVNEEDLETLGAAAPLLPMIEELKPPSASVVQTANKTDSPSRKRDKRSRHLGADGVYLDDLTDMDPEVAALYFPKNGDP
SGLAKHASDNGARSANQSPQSVGSSGVDSGVESTSDGLRDLPSIAISLCGGLSDHREITKDAFLEQAVSYQQFVDNPAIIDDPNLVVKIGSKYYNWTTAAPLLLA
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MNYVGQLAGQVFVTVKELYKGLNPATLSGCIDIIVIRQPNGNLQCSPFHVRFGKMGVLRSREKVVDIEINGESVDLHMKLGDNGEAFFVQETDNDQEVIPMHLAT
SPILSEGASRMECQLKRGSVDRMRGLDPSTPAQVIAPSETPSSSSVVKKRRKRRRKSQLDSLKRDDNMNTSEDEDMFPIEMSSDEAMELLESSRTLPNDIPPFQD
DIPEENLSLAVIYPQSASYPNSDREWSPTPSPSGSRPSTPKSDSELVSKSTERTGQKNPEMLWLWGELPQAAKSSSPHKMKESSPLSSRKICDKSHFQAIHSESS
DTFSDQSPTLVGGALLDQNKPQTEMQFVNEEDLETLGAAAPLLPMIEELKPPSASVVQTANKTDSPSRKRDKRSRHLGADGVYLDDLTDMDPEVAALYFPKNGDP
SGLAKHASDNGARSANQSPQSVGSSGVDSGVESTSDGLRDLPSIAISLCGGLSDHREITKDAFLEQAVSYQQFVDNPAIIDDPNLVVKIGSKYYNWTTAAPLLLA
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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 (1) | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 10 (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: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Bi C, 2012 | China | GAII | | | - | - | - | - | 67 | - |
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.