Gene Ontology Annotations Click to see Annotation Detail View
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Gene Ontology Annotations Click to see Annotation Detail View
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:12477932 | PMID:24722188 | PMID:25416956 | PMID:29892012 | PMID:31515488 | PMID:32296183 | PMID:33961781 |
LDLRAD1 (Homo sapiens - human) |
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Ldlrad1 (Mus musculus - house mouse) |
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Ldlrad1 (Rattus norvegicus - Norway rat) |
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Ldlrad1 (Chinchilla lanigera - long-tailed chinchilla) |
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LDLRAD1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LDLRAD1 (Canis lupus familiaris - dog) |
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Ldlrad1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LDLRAD1 (Sus scrofa - pig) |
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LDLRAD1 (Chlorocebus sabaeus - green monkey) |
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Ldlrad1 (Heterocephalus glaber - naked mole-rat) |
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Variants in LDLRAD1
11 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|See cases [RCV000051819] | Chr1:50222546..61618373 [GRCh38] Chr1:50688218..62084045 [GRCh37] Chr1:50460805..61856633 [NCBI36] Chr1:1p32.3-31.3 |
pathogenic |
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 | copy number gain | See cases [RCV000051822] | Chr1:52595352..76767765 [GRCh38] Chr1:53061024..77233450 [GRCh37] Chr1:52833612..77006038 [NCBI36] Chr1:1p32.3-31.1 |
pathogenic |
GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1 | copy number loss | See cases [RCV000053839] | Chr1:53738212..61439648 [GRCh38] Chr1:54203885..61905320 [GRCh37] Chr1:53976473..61677908 [NCBI36] Chr1:1p32.3-31.3 |
pathogenic |
NM_001010978.3(LDLRAD1):c.200C>T (p.Pro67Leu) | single nucleotide variant | Malignant melanoma [RCV000060216] | Chr1:54014238 [GRCh38] Chr1:54479911 [GRCh37] Chr1:54252499 [NCBI36] Chr1:1p32.3 |
not provided |
NM_001010978.3(LDLRAD1):c.181G>A (p.Gly61Arg) | single nucleotide variant | Malignant melanoma [RCV000060217] | Chr1:54014257 [GRCh38] Chr1:54479930 [GRCh37] Chr1:54252518 [NCBI36] Chr1:1p32.3 |
not provided |
GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1 | copy number loss | See cases [RCV000139470] | Chr1:53627272..64248854 [GRCh38] Chr1:54092945..64714537 [GRCh37] Chr1:53865533..64487125 [NCBI36] Chr1:1p32.3-31.3 |
pathogenic |
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 | copy number gain | See cases [RCV000141758] | Chr1:52787503..67339873 [GRCh38] Chr1:53253175..67805556 [GRCh37] Chr1:53025763..67578144 [NCBI36] Chr1:1p32.3-31.3 |
likely pathogenic |
GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3 | copy number gain | See cases [RCV000142034] | Chr1:53823735..54328113 [GRCh38] Chr1:54289408..54793786 [GRCh37] Chr1:54061996..54566374 [NCBI36] Chr1:1p32.3 |
uncertain significance |
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 | copy number loss | not provided [RCV000762767] | Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1 | copy number loss | See cases [RCV000447334] | Chr1:51729573..55164001 [GRCh37] Chr1:1p32.3 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 | copy number gain | Global developmental delay [RCV000787285] | Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1 |
uncertain significance |
NM_001010978.4(LDLRAD1):c.16C>T (p.Pro6Ser) | single nucleotide variant | not specified [RCV004302230] | Chr1:54018097 [GRCh38] Chr1:54483770 [GRCh37] Chr1:1p32.3 |
uncertain significance |
GRCh37/hg19 1p32.3(chr1:54002963-54575440)x3 | copy number gain | not provided [RCV000846106] | Chr1:54002963..54575440 [GRCh37] Chr1:1p32.3 |
uncertain significance |
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1 | copy number loss | Chromosome 1p32-p31 deletion syndrome [RCV001263218] | Chr1:53675707..66644963 [GRCh37] Chr1:1p32.3-31.3 |
pathogenic |
GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514) | copy number loss | Abnormality of the kidney [RCV001352641] | Chr1:51941877..56688514 [GRCh37] Chr1:1p32.3-32.2 |
pathogenic |
NM_001010978.4(LDLRAD1):c.467C>T (p.Pro156Leu) | single nucleotide variant | not specified [RCV004134182] | Chr1:54010284 [GRCh38] Chr1:54475957 [GRCh37] Chr1:1p32.3 |
uncertain significance |
NM_001010978.4(LDLRAD1):c.514T>C (p.Ser172Pro) | single nucleotide variant | not specified [RCV004140443] | Chr1:54009086 [GRCh38] Chr1:54474759 [GRCh37] Chr1:1p32.3 |
likely benign |
NM_001010978.4(LDLRAD1):c.134T>G (p.Leu45Arg) | single nucleotide variant | not specified [RCV004208182] | Chr1:54014304 [GRCh38] Chr1:54479977 [GRCh37] Chr1:1p32.3 |
uncertain significance |
NM_001010978.4(LDLRAD1):c.560G>A (p.Arg187His) | single nucleotide variant | not specified [RCV004075120] | Chr1:54009040 [GRCh38] Chr1:54474713 [GRCh37] Chr1:1p32.3 |
uncertain significance |
NM_001010978.4(LDLRAD1):c.506G>A (p.Arg169His) | single nucleotide variant | not specified [RCV004184405] | Chr1:54009094 [GRCh38] Chr1:54474767 [GRCh37] Chr1:1p32.3 |
likely benign |
NM_001010978.4(LDLRAD1):c.16C>G (p.Pro6Ala) | single nucleotide variant | not specified [RCV004259977] | Chr1:54018097 [GRCh38] Chr1:54483770 [GRCh37] Chr1:1p32.3 |
uncertain significance |
NM_001010978.4(LDLRAD1):c.442G>A (p.Gly148Arg) | single nucleotide variant | not specified [RCV004337592] | Chr1:54010309 [GRCh38] Chr1:54475982 [GRCh37] Chr1:1p32.3 |
uncertain significance |
NM_001010978.4(LDLRAD1):c.554T>C (p.Leu185Pro) | single nucleotide variant | not specified [RCV004343788] | Chr1:54009046 [GRCh38] Chr1:54474719 [GRCh37] Chr1:1p32.3 |
uncertain significance |
Single allele | inversion | Bilateral polymicrogyria [RCV003459046] | Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3 |
likely pathogenic |
GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3 | copy number gain | not specified [RCV003986484] | Chr1:47493178..57042671 [GRCh37] Chr1:1p33-32.2 |
likely pathogenic |
NM_001010978.4(LDLRAD1):c.32G>T (p.Gly11Val) | single nucleotide variant | not specified [RCV004412647] | Chr1:54017417 [GRCh38] Chr1:54483090 [GRCh37] Chr1:1p32.3 |
uncertain significance |
NM_001010978.4(LDLRAD1):c.431C>T (p.Thr144Ile) | single nucleotide variant | not specified [RCV004412648] | Chr1:54010320 [GRCh38] Chr1:54475993 [GRCh37] Chr1:1p32.3 |
likely benign |
NM_001010978.4(LDLRAD1):c.440G>A (p.Cys147Tyr) | single nucleotide variant | not specified [RCV004412649] | Chr1:54010311 [GRCh38] Chr1:54475984 [GRCh37] Chr1:1p32.3 |
uncertain significance |
NM_001010978.4(LDLRAD1):c.597G>C (p.Glu199Asp) | single nucleotide variant | not specified [RCV004412651] | Chr1:54009003 [GRCh38] Chr1:54474676 [GRCh37] Chr1:1p32.3 |
uncertain significance |
NM_001010978.4(LDLRAD1):c.82G>A (p.Gly28Ser) | single nucleotide variant | not specified [RCV004412652] | Chr1:54014356 [GRCh38] Chr1:54480029 [GRCh37] Chr1:1p32.3 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | pharyngeal arch | |
High | ||||||||||||||||
Medium | 2 | 1 | 16 | 24 | 1 | 17 | 71 | 183 | 8 | |||||||
Low | 75 | 2 | 310 | 211 | 3 | 72 | 4 | 5 | 1 | 19 | 524 | 452 | 142 | 1 | 1 | 1 |
Below cutoff | 975 | 594 | 788 | 197 | 306 | 185 | 1539 | 449 | 865 | 89 | 520 | 529 | 18 | 247 | 959 |
RefSeq Acc Id: | ENST00000371360 ⟹ ENSP00000360411 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000371362 ⟹ ENSP00000360413 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000420619 ⟹ ENSP00000411017 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000545928 ⟹ ENSP00000445871 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001010978 ⟹ NP_001010978 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001276392 ⟹ NP_001263321 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001276393 ⟹ NP_001263322 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001276394 ⟹ NP_001263323 | ||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001276395 ⟹ NP_001263324 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011541446 ⟹ XP_011539748 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017001264 ⟹ XP_016856753 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054336520 ⟹ XP_054192495 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054336521 ⟹ XP_054192496 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_001010978 ⟸ NM_001010978 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B7ZME3 (UniProtKB/Swiss-Prot), A0PJY0 (UniProtKB/Swiss-Prot), Q5T6Z9 (UniProtKB/Swiss-Prot), Q5T700 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001263321 ⟸ NM_001276392 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q5T700 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001263323 ⟸ NM_001276394 |
- Peptide Label: | isoform 4 |
- UniProtKB: | Q5T700 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001263324 ⟸ NM_001276395 |
- Peptide Label: | isoform 5 |
- Sequence: |
RefSeq Acc Id: | NP_001263322 ⟸ NM_001276393 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q5T700 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011539748 ⟸ XM_011541446 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_016856753 ⟸ XM_017001264 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | ENSP00000360411 ⟸ ENST00000371360 |
RefSeq Acc Id: | ENSP00000360413 ⟸ ENST00000371362 |
RefSeq Acc Id: | ENSP00000445871 ⟸ ENST00000545928 |
RefSeq Acc Id: | ENSP00000411017 ⟸ ENST00000420619 |
RefSeq Acc Id: | XP_054192496 ⟸ XM_054336521 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054192495 ⟸ XM_054336520 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5T700-F1-model_v2 | AlphaFold | Q5T700 | 1-205 | view protein structure |
RGD ID: | 6855618 | ||||||||
Promoter ID: | EPDNEW_H974 | ||||||||
Type: | initiation region | ||||||||
Name: | LDLRAD1_1 | ||||||||
Description: | low density lipoprotein receptor class A domain containing 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:32069 | AgrOrtholog |
COSMIC | LDLRAD1 | COSMIC |
Ensembl Genes | ENSG00000203985 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000371360 | ENTREZGENE |
ENST00000371360.2 | UniProtKB/Swiss-Prot | |
ENST00000371362 | ENTREZGENE | |
ENST00000371362.7 | UniProtKB/Swiss-Prot | |
ENST00000420619 | ENTREZGENE | |
ENST00000420619.5 | UniProtKB/Swiss-Prot | |
ENST00000545928 | ENTREZGENE | |
ENST00000545928.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 4.10.400.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000203985 | GTEx |
HGNC ID | HGNC:32069 | ENTREZGENE |
Human Proteome Map | LDLRAD1 | Human Proteome Map |
InterPro | LDL_receptor-like_sf | UniProtKB/Swiss-Prot |
LDrepeatLR_classA_rpt | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:388633 | UniProtKB/Swiss-Prot |
NCBI Gene | 388633 | ENTREZGENE |
PANTHER | LOW-DENSITY LIPOPROTEIN RECEPTOR-RELATED | UniProtKB/Swiss-Prot |
PROLOW-DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1-LIKE PROTEIN | UniProtKB/Swiss-Prot | |
Pfam | Ldl_recept_a | UniProtKB/Swiss-Prot |
PharmGKB | PA142671554 | PharmGKB |
PRINTS | LDLRECEPTOR | UniProtKB/Swiss-Prot |
PROSITE | LDLRA_1 | UniProtKB/Swiss-Prot |
LDLRA_2 | UniProtKB/Swiss-Prot | |
SMART | LDLa | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF57424 | UniProtKB/Swiss-Prot |
UniProt | A0PJY0 | ENTREZGENE |
B7ZME3 | ENTREZGENE | |
LRAD1_HUMAN | UniProtKB/Swiss-Prot | |
Q5T6Z9 | ENTREZGENE | |
Q5T700 | ENTREZGENE | |
UniProt Secondary | A0PJY0 | UniProtKB/Swiss-Prot |
B7ZME3 | UniProtKB/Swiss-Prot | |
Q5T6Z9 | UniProtKB/Swiss-Prot |