Evidence Details for LHFPL3
Basic Information Top
| Gene Symbol: | LHFPL3 ( LHFPL4 ) |
|---|---|
| Gene Full Name: | lipoma HMGIC fusion partner-like 3 |
| Band: | 7q22.2-q22.3 |
| Quick Links | Entrez ID:375612; OMIM: 609719; Uniprot ID:LHPL3_HUMAN; ENSEMBL ID: ENSG00000187416; HGNC ID: 6589 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>LHFPL3|375612|nucleotide
ATGCCCGGAGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCGATGCTCCCGGCTCAGGAGGCTGCCAAGCTGTACCACACCAACTATGTGCGGAACTCGCGGGCC
ATCGGCGTGCTGTGGGCCATCTTCACCATCTGCTTTGCCATCGTCAACGTGGTGTGCTTCATCCAGCCCTACTGGATAGGCGACGGCGTGGACACCCCGCAAGCC
GGCTATTTCGGGCTCTTCCACTACTGCATCGGCAACGGCTTCTCCCGGGAGCTGACCTGCAGGGGCAGCTTCACGGACTTCTCCACGCTGCCCTCGGGCGCCTTC
AAAGCCGCCTCCTTCTTTATCGGCCTCTCCATGATGCTCATCATTGCCTGCATCATTTGCTTTACCCTCTTCTTCTTCTGCAACACGGCCACTGTGTACAAGATA
TGTGCCTGGATGCAGCTCACCTCCGCTGCCTGCCTTGTGCTTGGCTGTATGATTTTCCCTGATGGCTGGGACTCAGATGAAGTAAAACGGATGTGTGGAGAAAAG
ACAGACAAGTACACTCTTGGGGCTTGCTCAGTCCGCTGGGCATACATCCTGGCTATTATTGGAATTTTGGATGCCCTGATCCTCTCATTTCTAGCATTTGTGCTT
GGTAATCGACAAGACAGCTTGATGGCAGAGGAACTGAAGGCAGAAAACAAAGTTCTGCTAAGCCAATATTCTCTAGAATGA
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ATGCCCGGAGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCGATGCTCCCGGCTCAGGAGGCTGCCAAGCTGTACCACACCAACTATGTGCGGAACTCGCGGGCC
ATCGGCGTGCTGTGGGCCATCTTCACCATCTGCTTTGCCATCGTCAACGTGGTGTGCTTCATCCAGCCCTACTGGATAGGCGACGGCGTGGACACCCCGCAAGCC
GGCTATTTCGGGCTCTTCCACTACTGCATCGGCAACGGCTTCTCCCGGGAGCTGACCTGCAGGGGCAGCTTCACGGACTTCTCCACGCTGCCCTCGGGCGCCTTC
AAAGCCGCCTCCTTCTTTATCGGCCTCTCCATGATGCTCATCATTGCCTGCATCATTTGCTTTACCCTCTTCTTCTTCTGCAACACGGCCACTGTGTACAAGATA
TGTGCCTGGATGCAGCTCACCTCCGCTGCCTGCCTTGTGCTTGGCTGTATGATTTTCCCTGATGGCTGGGACTCAGATGAAGTAAAACGGATGTGTGGAGAAAAG
ACAGACAAGTACACTCTTGGGGCTTGCTCAGTCCGCTGGGCATACATCCTGGCTATTATTGGAATTTTGGATGCCCTGATCCTCTCATTTCTAGCATTTGTGCTT
GGTAATCGACAAGACAGCTTGATGGCAGAGGAACTGAAGGCAGAAAACAAAGTTCTGCTAAGCCAATATTCTCTAGAATGA
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>LHFPL3|375612|protein
MPGAAAAAAAAAAAMLPAQEAAKLYHTNYVRNSRAIGVLWAIFTICFAIVNVVCFIQPYWIGDGVDTPQAGYFGLFHYCIGNGFSRELTCRGSFTDFSTLPSGAF
KAASFFIGLSMMLIIACIICFTLFFFCNTATVYKICAWMQLTSAACLVLGCMIFPDGWDSDEVKRMCGEKTDKYTLGACSVRWAYILAIIGILDALILSFLAFVL
GNRQDSLMAEELKAENKVLLSQYSLE
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MPGAAAAAAAAAAAMLPAQEAAKLYHTNYVRNSRAIGVLWAIFTICFAIVNVVCFIQPYWIGDGVDTPQAGYFGLFHYCIGNGFSRELTCRGSFTDFSTLPSGAF
KAASFFIGLSMMLIIACIICFTLFFFCNTATVYKICAWMQLTSAACLVLGCMIFPDGWDSDEVKRMCGEKTDKYTLGACSVRWAYILAIIGILDALILSFLAFVL
GNRQDSLMAEELKAENKVLLSQYSLE
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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 (2) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 6 (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 | |||||||||||
| Maestrini, 2009_2 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 127 | 127 (-) |  | | ASD | - - |
- - | ||
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) |
|||||
| CAUCASIAN | ||||||||||||
| Maestrini, 2009_5 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 127 (20.47%) | | | ASD | - - |
- | 188 (21.28%) |
- - | ||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
Low 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.