Evidence Details for LDLRAD3
Basic Information Top
| Gene Symbol: | LDLRAD3 ( - ) |
|---|---|
| Gene Full Name: | low density lipoprotein receptor class A domain containing 3 |
| Band: | 11p13 |
| Quick Links | Entrez ID:143458; OMIM: NA; Uniprot ID:LRAD3_HUMAN; ENSEMBL ID: ENSG00000179241; HGNC ID: 27046 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>LDLRAD3|143458|nucleotide
ATGTGGCTGCTGGGGCCGCTGTGCCTGCTGCTGAGCAGCGCCGCGGAGAGCCAGCTGCTCCCCGGGAACAACTTCACCAATGAGTGCAACATACCAGGCAACTTC
ATGTGCAGCAATGGACGGTGCATCCCGGGCGCCTGGCAGTGTGACGGGCTGCCTGACTGCTTCGACAAGAGTGATGAGAAGGAGTGCCCCAAGGCTAAGTCGAAA
TGTGGCCCAACCTTCTTCCCCTGTGCCAGCGGCATCCATTGCATCATTGGTCGCTTCCGGTGCAATGGGTTTGAGGACTGTCCCGATGGCAGCGATGAAGAGAAC
TGCACAGCAAACCCTCTGCTTTGCTCCACCGCCCGCTACCACTGCAAGAACGGCCTCTGTATTGACAAGAGCTTCATCTGCGATGGACAGAATAACTGTCAAGAC
AACAGTGATGAGGAAAGCTGTGAAAGTTCTCAAGAACCCGGCAGTGGGCAGGTGTTTGTGACTTCAGAGAACCAACTTGTGTATTACCCCAGCATCACCTATGCC
ATCATCGGCAGCTCCGTCATTTTTGTGCTGGTGGTGGCCCTGCTGGCACTGGTCTTGCACCACCAGCGGAAGCGGAACAACCTCATGACGCTGCCCGTGCACCGG
CTGCAGCACCCTGTGCTGCTGTCCCGCCTGGTGGTCCTGGACCACCCCCACCACTGCAACGTCACCTACAACGTCAATAATGGCATCCAGTATGTGGCCAGCCAG
GCGGAGCAGAATGCGTCGGAAGTAGGCTCCCCACCCTCCTACTCCGAGGCCTTGCTGGACCAGAGGCCTGCGTGGTATGACCTTCCTCCACCGCCCTACTCTTCT
GACACGGAATCTCTGAACCAAGCCGACCTGCCCCCCTACCGCTCCCGGTCCGGGAGTGCCAACAGTGCCAGCTCCCAGGCAGCCAGCAGCCTCCTGAGCGTGGAA
GACACCAGCCACAGCCCGGGGCAGCCTGGCCCCCAGGAGGGCACTGCTGAGCCCAGGGACTCTGAGCCCAGCCAGGGCACTGAAGAAGTATAA
Show »
ATGTGGCTGCTGGGGCCGCTGTGCCTGCTGCTGAGCAGCGCCGCGGAGAGCCAGCTGCTCCCCGGGAACAACTTCACCAATGAGTGCAACATACCAGGCAACTTC
ATGTGCAGCAATGGACGGTGCATCCCGGGCGCCTGGCAGTGTGACGGGCTGCCTGACTGCTTCGACAAGAGTGATGAGAAGGAGTGCCCCAAGGCTAAGTCGAAA
TGTGGCCCAACCTTCTTCCCCTGTGCCAGCGGCATCCATTGCATCATTGGTCGCTTCCGGTGCAATGGGTTTGAGGACTGTCCCGATGGCAGCGATGAAGAGAAC
TGCACAGCAAACCCTCTGCTTTGCTCCACCGCCCGCTACCACTGCAAGAACGGCCTCTGTATTGACAAGAGCTTCATCTGCGATGGACAGAATAACTGTCAAGAC
AACAGTGATGAGGAAAGCTGTGAAAGTTCTCAAGAACCCGGCAGTGGGCAGGTGTTTGTGACTTCAGAGAACCAACTTGTGTATTACCCCAGCATCACCTATGCC
ATCATCGGCAGCTCCGTCATTTTTGTGCTGGTGGTGGCCCTGCTGGCACTGGTCTTGCACCACCAGCGGAAGCGGAACAACCTCATGACGCTGCCCGTGCACCGG
CTGCAGCACCCTGTGCTGCTGTCCCGCCTGGTGGTCCTGGACCACCCCCACCACTGCAACGTCACCTACAACGTCAATAATGGCATCCAGTATGTGGCCAGCCAG
GCGGAGCAGAATGCGTCGGAAGTAGGCTCCCCACCCTCCTACTCCGAGGCCTTGCTGGACCAGAGGCCTGCGTGGTATGACCTTCCTCCACCGCCCTACTCTTCT
GACACGGAATCTCTGAACCAAGCCGACCTGCCCCCCTACCGCTCCCGGTCCGGGAGTGCCAACAGTGCCAGCTCCCAGGCAGCCAGCAGCCTCCTGAGCGTGGAA
GACACCAGCCACAGCCCGGGGCAGCCTGGCCCCCAGGAGGGCACTGCTGAGCCCAGGGACTCTGAGCCCAGCCAGGGCACTGAAGAAGTATAA
Show »
>LDLRAD3|143458|protein
MWLLGPLCLLLSSAAESQLLPGNNFTNECNIPGNFMCSNGRCIPGAWQCDGLPDCFDKSDEKECPKAKSKCGPTFFPCASGIHCIIGRFRCNGFEDCPDGSDEEN
CTANPLLCSTARYHCKNGLCIDKSFICDGQNNCQDNSDEESCESSQEPGSGQVFVTSENQLVYYPSITYAIIGSSVIFVLVVALLALVLHHQRKRNNLMTLPVHR
LQHPVLLSRLVVLDHPHHCNVTYNVNNGIQYVASQAEQNASEVGSPPSYSEALLDQRPAWYDLPPPPYSSDTESLNQADLPPYRSRSGSANSASSQAASSLLSVE
DTSHSPGQPGPQEGTAEPRDSEPSQGTEEV
Show »
MWLLGPLCLLLSSAAESQLLPGNNFTNECNIPGNFMCSNGRCIPGAWQCDGLPDCFDKSDEKECPKAKSKCGPTFFPCASGIHCIIGRFRCNGFEDCPDGSDEEN
CTANPLLCSTARYHCKNGLCIDKSFICDGQNNCQDNSDEESCESSQEPGSGQVFVTSENQLVYYPSITYAIIGSSVIFVLVVALLALVLHHQRKRNNLMTLPVHR
LQHPVLLSRLVVLDHPHHCNVTYNVNNGIQYVASQAEQNASEVGSPPSYSEALLDQRPAWYDLPPPPYSSDTESLNQADLPPYRSRSGSANSASSQAASSLLSVE
DTSHSPGQPGPQEGTAEPRDSEPSQGTEEV
Show »
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) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (3) |
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 | ||||||
| Yonan, 2003 | USA | microsatellite-based genomic screen |  |  | PDD | 345 | - | 345 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
Case Control Based Association Studies: 1
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | |||||||||||
| Kantojarvi, 2010_1 | Finland | - | | | ASD | - - |
- | 216 (50.00%) |
50 - | ||
Large 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 | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | | | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
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.