Evidence Details for LMX1B
Basic Information Top
| Gene Symbol: | LMX1B ( LMX1.2,MGC138325,MGC142051,NPS1 ) |
|---|---|
| Gene Full Name: | LIM homeobox transcription factor 1, beta |
| Band: | 9q33.3 |
| Quick Links | Entrez ID:4010; OMIM: 602575; Uniprot ID:LMX1B_HUMAN; ENSEMBL ID: ENSG00000136944; HGNC ID: 6654 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>LMX1B|4010|nucleotide
ATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTG
CGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTGCCAGCGGCCCATCTCCGACCGCTTCCTGATGCGA
GTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTGTACTGCAAACAA
GACTACCAACAGCTCTTCGCGGCCAAGTGCAGCGGCTGCATGGAGAAGATCGCCCCCACCGAGTTCGTGATGCGGGCGCTGGAGTGCGTGTACCACCTGGGCTGC
TTCTGCTGCTGCGTGTGTGAACGGCAGCTACGCAAGGGCGACGAATTCGTGCTCAAGGAGGGCCAGCTGCTGTGCAAGGGTGACTACGAGAAGGAGAAGGACCTG
CTCAGCTCCGTGAGCCCCGACGAGTCCGACTCCGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGG
GATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGC
CGAAAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGATGAAGAAGCTGGCGCGGCGG
CACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGAGGTCCTGTCCAGCCGCATGGAGGGC
ATGATGGCTTCCTACACGCCGCTGGCCCCACCACAGCAGCAGATCGTGGCCATGGAACAGAGCCCCTACGGCAGCAGCGACCCCTTCCAGCAGGGCCTCACGCCG
CCCCAAATGCCAGGGAACGACTCCATCTTCCATGACATCGACAGCGATACCTCCTTAACCAGCCTCAGCGACTGCTTCCTCGGCTCCTCAGACGTGGGCTCCCTG
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ATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGACTGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTG
CGCCCCGGGCCCGCCACTCTGGGGGTGCTGCTGGGCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTGCCAGCGGCCCATCTCCGACCGCTTCCTGATGCGA
GTCAACGAGTCGTCCTGGCACGAGGAGTGTTTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAACTGTACTGCAAACAA
GACTACCAACAGCTCTTCGCGGCCAAGTGCAGCGGCTGCATGGAGAAGATCGCCCCCACCGAGTTCGTGATGCGGGCGCTGGAGTGCGTGTACCACCTGGGCTGC
TTCTGCTGCTGCGTGTGTGAACGGCAGCTACGCAAGGGCGACGAATTCGTGCTCAAGGAGGGCCAGCTGCTGTGCAAGGGTGACTACGAGAAGGAGAAGGACCTG
CTCAGCTCCGTGAGCCCCGACGAGTCCGACTCCGTGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAGGGGCAGGGCAGTCAGAGCAAGGGCAGCGGG
GATGACGGGAAGGACCCGCGGAGGCCCAAGCGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTCTCGTCGAAGCCTTGC
CGAAAGGTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTGCGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAGATGAAGAAGCTGGCGCGGCGG
CACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGGGTGAGCCGGGGCCGGGGCAGGGCCTGGGCCAGGAGGTCCTGTCCAGCCGCATGGAGGGC
ATGATGGCTTCCTACACGCCGCTGGCCCCACCACAGCAGCAGATCGTGGCCATGGAACAGAGCCCCTACGGCAGCAGCGACCCCTTCCAGCAGGGCCTCACGCCG
CCCCAAATGCCAGGGAACGACTCCATCTTCCATGACATCGACAGCGATACCTCCTTAACCAGCCTCAGCGACTGCTTCCTCGGCTCCTCAGACGTGGGCTCCCTG
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>LMX1B|4010|protein
MDIATGPESLERCFPRGQTDCAKMLDGIKMEEHALRPGPATLGVLLGSDCPHPAVCEGCQRPISDRFLMRVNESSWHEECLQCAACQQALTTSCYFRDRKLYCKQ
DYQQLFAAKCSGCMEKIAPTEFVMRALECVYHLGCFCCCVCERQLRKGDEFVLKEGQLLCKGDYEKEKDLLSSVSPDESDSVKSEDEDGDMKPAKGQGSQSKGSG
DDGKDPRRPKRPRTILTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKKLARRHQQQQEQQNSQRLGQGEPGPGQGLGQEVLSSRMEG
MMASYTPLAPPQQQIVAMEQSPYGSSDPFQQGLTPPQMPGNDSIFHDIDSDTSLTSLSDCFLGSSDVGSLQARVGNPIDRLYSMQSSYFAS
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MDIATGPESLERCFPRGQTDCAKMLDGIKMEEHALRPGPATLGVLLGSDCPHPAVCEGCQRPISDRFLMRVNESSWHEECLQCAACQQALTTSCYFRDRKLYCKQ
DYQQLFAAKCSGCMEKIAPTEFVMRALECVYHLGCFCCCVCERQLRKGDEFVLKEGQLLCKGDYEKEKDLLSSVSPDESDSVKSEDEDGDMKPAKGQGSQSKGSG
DDGKDPRRPKRPRTILTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKKLARRHQQQQEQQNSQRLGQGEPGPGQGLGQEVLSSRMEG
MMASYTPLAPPQQQIVAMEQSPYGSSDPFQQGLTPPQMPGNDSIFHDIDSDTSLTSLSDCFLGSSDVGSLQARVGNPIDRLYSMQSSYFAS
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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) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Risch, 1999 | USA | microsatellite-based genomic screen |  | | PDD | 90 | - | 90 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Thanseem, 2011_1 | USA | TaqMan SNP assay | 252 | - (-) | |  | ASD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|
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.