Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | LRATD1 | Human | polycystic ovary syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21411543 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | LRATD1 | Human | polycystic ovary syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21411543 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:14702039 | PMID:15489334 | PMID:15815621 | PMID:16820875 | PMID:21873635 | PMID:22589738 | PMID:22990118 | PMID:23824909 | PMID:32296183 | PMID:32814053 | PMID:33751775 |
PMID:33961781 |
LRATD1 (Homo sapiens - human) |
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Lratd1 (Mus musculus - house mouse) |
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Lratd1 (Rattus norvegicus - Norway rat) |
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Lratd1 (Chinchilla lanigera - long-tailed chinchilla) |
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LRATD1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LRATD1 (Canis lupus familiaris - dog) |
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Lratd1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LRATD1 (Sus scrofa - pig) |
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LRATD1 (Chlorocebus sabaeus - green monkey) |
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Lratd1 (Heterocephalus glaber - naked mole-rat) |
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Variants in LRATD1
11 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 | copy number gain | See cases [RCV000052929] | Chr2:30141..31766749 [GRCh38] Chr2:30141..31991818 [GRCh37] Chr2:20141..31845322 [NCBI36] Chr2:2p25.3-23.1 |
pathogenic |
GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 | copy number gain | See cases [RCV000052931] | Chr2:30342..14866951 [GRCh38] Chr2:30342..15007075 [GRCh37] Chr2:20342..14924526 [NCBI36] Chr2:2p25.3-24.3 |
pathogenic |
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 | copy number gain | See cases [RCV000052933] | Chr2:66097..55570637 [GRCh38] Chr2:66097..55797773 [GRCh37] Chr2:56097..55651277 [NCBI36] Chr2:2p25.3-16.1 |
pathogenic |
GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 | copy number loss | See cases [RCV000053978] | Chr2:6531172..16103799 [GRCh38] Chr2:6671304..16243921 [GRCh37] Chr2:6588755..16161372 [NCBI36] Chr2:2p25.2-24.3 |
pathogenic |
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 | copy number gain | See cases [RCV000135398] | Chr2:30341..28419664 [GRCh38] Chr2:30341..28642531 [GRCh37] Chr2:20341..28496035 [NCBI36] Chr2:2p25.3-23.2 |
pathogenic |
GRCh38/hg38 2p24.3(chr2:13664310-16228425)x1 | copy number loss | See cases [RCV000137049] | Chr2:13664310..16228425 [GRCh38] Chr2:13804435..16409693 [GRCh37] Chr2:13721886..16273174 [NCBI36] Chr2:2p24.3 |
pathogenic |
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 | copy number gain | See cases [RCV000137344] | Chr2:17019..26318846 [GRCh38] Chr2:17019..26541714 [GRCh37] Chr2:7019..26395218 [NCBI36] Chr2:2p25.3-23.3 |
pathogenic |
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 | copy number gain | See cases [RCV000137913] | Chr2:1664615..23664142 [GRCh38] Chr2:1668387..23887012 [GRCh37] Chr2:1647394..23740517 [NCBI36] Chr2:2p25.3-24.1 |
pathogenic|likely pathogenic |
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 | copy number gain | See cases [RCV000141226] | Chr2:17019..20001056 [GRCh38] Chr2:17019..20200817 [GRCh37] Chr2:7019..20064298 [NCBI36] Chr2:2p25.3-24.1 |
pathogenic |
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 | copy number gain | See cases [RCV000141829] | Chr2:12770..33711509 [GRCh38] Chr2:12770..33936576 [GRCh37] Chr2:2770..33790080 [NCBI36] Chr2:2p25.3-22.3 |
pathogenic |
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 | copy number gain | See cases [RCV000141877] | Chr2:12770..25039694 [GRCh38] Chr2:12770..25262563 [GRCh37] Chr2:2770..25116067 [NCBI36] Chr2:2p25.3-23.3 |
pathogenic |
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 | copy number gain | See cases [RCV000141494] | Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2 |
benign |
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 | copy number gain | See cases [RCV000143682] | Chr2:236816..45983232 [GRCh38] Chr2:236816..46210371 [GRCh37] Chr2:226816..46063875 [NCBI36] Chr2:2p25.3-21 |
pathogenic |
GRCh37/hg19 2p24.3(chr2:14617464-16467586)x1 | copy number loss | See cases [RCV000446084] | Chr2:14617464..16467586 [GRCh37] Chr2:2p24.3 |
pathogenic |
NC_000002.11:g.(?_11326144)_(16240708_?)del | deletion | Schizophrenia [RCV000416804] | Chr2:11326144..16240708 [GRCh37] Chr2:11243595..16158159 [NCBI36] Chr2:2p25.1-24.3 |
likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 | copy number gain | See cases [RCV000510934] | Chr2:12770..20081474 [GRCh37] Chr2:2p25.3-24.1 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NC_000002.12:g.(?_11177745)_(16113827_?)del | deletion | Schizophrenia [RCV000754225] | Chr2:11177745..16113827 [GRCh38] Chr2:2p25.1-24.3 |
likely pathogenic |
GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3 | copy number gain | not provided [RCV000847286] | Chr2:12269293..18259781 [GRCh37] Chr2:2p24.3-24.2 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) | copy number gain | Mosaic trisomy 2 [RCV002280628] | Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1 | copy number loss | not provided [RCV001836520] | Chr2:8935077..15722794 [GRCh37] Chr2:2p25.1-24.3 |
uncertain significance |
GRCh37/hg19 2p24.3(chr2:14774068-15679480)x1 | copy number loss | not provided [RCV002214219] | Chr2:14774068..15679480 [GRCh37] Chr2:2p24.3 |
likely pathogenic |
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 | copy number loss | See cases [RCV002287563] | Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13 |
pathogenic |
NM_145175.4(LRATD1):c.515C>G (p.Ala172Gly) | single nucleotide variant | not specified [RCV004298621] | Chr2:14634494 [GRCh38] Chr2:14774618 [GRCh37] Chr2:2p24.3 |
uncertain significance |
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 | copy number gain | not provided [RCV002473946] | Chr2:706460..35523639 [GRCh37] Chr2:2p25.3-22.3 |
pathogenic |
GRCh37/hg19 2p24.3(chr2:14712689-14901673)x1 | copy number loss | not provided [RCV002473813] | Chr2:14712689..14901673 [GRCh37] Chr2:2p24.3 |
uncertain significance |
NM_145175.4(LRATD1):c.868G>T (p.Asp290Tyr) | single nucleotide variant | not specified [RCV004284983] | Chr2:14634847 [GRCh38] Chr2:14774971 [GRCh37] Chr2:2p24.3 |
uncertain significance |
NM_145175.4(LRATD1):c.613G>C (p.Glu205Gln) | single nucleotide variant | not specified [RCV004322722] | Chr2:14634592 [GRCh38] Chr2:14774716 [GRCh37] Chr2:2p24.3 |
uncertain significance |
NM_145175.4(LRATD1):c.101C>G (p.Ala34Gly) | single nucleotide variant | not specified [RCV004349219] | Chr2:14634080 [GRCh38] Chr2:14774204 [GRCh37] Chr2:2p24.3 |
uncertain significance |
GRCh37/hg19 2p24.3(chr2:12289529-16104486)x1 | copy number loss | not specified [RCV003986345] | Chr2:12289529..16104486 [GRCh37] Chr2:2p24.3 |
pathogenic |
GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3 | copy number gain | not specified [RCV003986320] | Chr2:6375088..23538518 [GRCh37] Chr2:2p25.2-24.1 |
pathogenic |
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 | copy number gain | See cases [RCV004442780] | Chr2:12771..35541353 [GRCh37] Chr2:2p25.3-22.3 |
pathogenic |
NM_145175.4(LRATD1):c.120T>G (p.Asp40Glu) | single nucleotide variant | not specified [RCV004410647] | Chr2:14634099 [GRCh38] Chr2:14774223 [GRCh37] Chr2:2p24.3 |
likely benign |
NM_145175.4(LRATD1):c.176C>T (p.Pro59Leu) | single nucleotide variant | not specified [RCV004410648] | Chr2:14634155 [GRCh38] Chr2:14774279 [GRCh37] Chr2:2p24.3 |
uncertain significance |
NM_145175.4(LRATD1):c.410C>T (p.Pro137Leu) | single nucleotide variant | not specified [RCV004410649] | Chr2:14634389 [GRCh38] Chr2:14774513 [GRCh37] Chr2:2p24.3 |
uncertain significance |
NM_145175.4(LRATD1):c.505G>A (p.Ala169Thr) | single nucleotide variant | not specified [RCV004410650] | Chr2:14634484 [GRCh38] Chr2:14774608 [GRCh37] Chr2:2p24.3 |
uncertain significance |
NM_145175.4(LRATD1):c.744C>G (p.His248Gln) | single nucleotide variant | not specified [RCV004410651] | Chr2:14634723 [GRCh38] Chr2:14774847 [GRCh37] Chr2:2p24.3 |
uncertain significance |
NM_145175.4(LRATD1):c.809G>A (p.Arg270His) | single nucleotide variant | not specified [RCV004410652] | Chr2:14634788 [GRCh38] Chr2:14774912 [GRCh37] Chr2:2p24.3 |
uncertain significance |
NM_145175.4(LRATD1):c.81C>G (p.Asp27Glu) | single nucleotide variant | not specified [RCV004410653] | Chr2:14634060 [GRCh38] Chr2:14774184 [GRCh37] Chr2:2p24.3 |
uncertain significance |
NM_145175.4(LRATD1):c.830G>A (p.Arg277His) | single nucleotide variant | not specified [RCV004637447] | Chr2:14634809 [GRCh38] Chr2:14774933 [GRCh37] Chr2:2p24.3 |
uncertain significance |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
SHGC-36750 |
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RH99165 |
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RH78874 |
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D2S1661E |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2418 | 2788 | 2228 | 4922 | 1700 | 2258 | 5 | 607 | 1209 | 447 | 2231 | 6536 | 5742 | 34 | 3719 | 1 | 837 | 1713 | 1542 | 174 | 1 |
RefSeq Transcripts | NM_001369364 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_145175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_144632 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC011897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF086407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF370404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI432449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ417080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK092654 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314463 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC026346 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC029933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC052284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI547868 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM998595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX113099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY017941 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000295092 ⟹ ENSP00000295092 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000331243 ⟹ ENSP00000330681 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000464947 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000497769 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001369364 ⟹ NP_001356293 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_145175 ⟹ NP_660158 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_144632 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001356293 | (Get FASTA) | NCBI Sequence Viewer |
NP_660158 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH26346 | (Get FASTA) | NCBI Sequence Viewer |
AAH52284 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ15240 | (Get FASTA) | NCBI Sequence Viewer | |
AAY15041 | (Get FASTA) | NCBI Sequence Viewer | |
BAC03938 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37071 | (Get FASTA) | NCBI Sequence Viewer | |
CAD10038 | (Get FASTA) | NCBI Sequence Viewer | |
EAX00905 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000295092 | ||
ENSP00000295092.2 | |||
ENSP00000330681 | |||
ENSP00000330681.4 | |||
GenBank Protein | Q96KN4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_660158 ⟸ NM_145175 |
- UniProtKB: | Q8NAH7 (UniProtKB/Swiss-Prot), Q86UZ2 (UniProtKB/Swiss-Prot), A6NP76 (UniProtKB/Swiss-Prot), Q8TAM5 (UniProtKB/Swiss-Prot), Q96KN4 (UniProtKB/Swiss-Prot), B2RB24 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001356293 ⟸ NM_001369364 |
- UniProtKB: | Q96KN4 (UniProtKB/Swiss-Prot), Q8NAH7 (UniProtKB/Swiss-Prot), Q86UZ2 (UniProtKB/Swiss-Prot), A6NP76 (UniProtKB/Swiss-Prot), Q8TAM5 (UniProtKB/Swiss-Prot), B2RB24 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSP00000330681 ⟸ ENST00000331243 |
Ensembl Acc Id: | ENSP00000295092 ⟸ ENST00000295092 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q96KN4-F1-model_v2 | AlphaFold | Q96KN4 | 1-292 | view protein structure |
RGD ID: | 6859670 | ||||||||
Promoter ID: | EPDNEW_H3000 | ||||||||
Type: | initiation region | ||||||||
Name: | FAM84A_1 | ||||||||
Description: | family with sequence similarity 84 member A | ||||||||
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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RGD ID: | 6797471 | ||||||||
Promoter ID: | HG_KWN:31578 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | ENST00000331243, ENST00000359969, OTTHUMT00000239308 | ||||||||
Position: |
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RGD ID: | 6797472 | ||||||||
Promoter ID: | HG_KWN:31579 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | ENST00000381456, OTTHUMT00000323612, OTTHUMT00000323614, UC010EXK.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:20743 | AgrOrtholog |
COSMIC | LRATD1 | COSMIC |
Ensembl Genes | ENSG00000162981 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000295092 | ENTREZGENE |
ENST00000295092.3 | UniProtKB/Swiss-Prot | |
ENST00000331243 | ENTREZGENE | |
ENST00000331243.4 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | endopeptidase domain like (from Nostoc punctiforme) | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000162981 | GTEx |
HGNC ID | HGNC:20743 | ENTREZGENE |
Human Proteome Map | LRATD1 | Human Proteome Map |
InterPro | LRAT_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
LRATD1_LRATD2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:151354 | UniProtKB/Swiss-Prot |
NCBI Gene | 151354 | ENTREZGENE |
OMIM | 611234 | OMIM |
PANTHER | PROTEIN FAM84B-RELATED | UniProtKB/TrEMBL |
PROTEIN LRATD1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PTHR46341 | UniProtKB/Swiss-Prot | |
Pfam | LRAT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA142671854 | PharmGKB |
PROSITE | LRAT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A6NP76 | ENTREZGENE |
B2RB24 | ENTREZGENE, UniProtKB/TrEMBL | |
FA84A_HUMAN | UniProtKB/Swiss-Prot | |
Q86UZ2 | ENTREZGENE | |
Q8NAH7 | ENTREZGENE | |
Q8TAM5 | ENTREZGENE | |
Q96KN4 | ENTREZGENE | |
UniProt Secondary | A6NP76 | UniProtKB/Swiss-Prot |
Q86UZ2 | UniProtKB/Swiss-Prot | |
Q8NAH7 | UniProtKB/Swiss-Prot | |
Q8TAM5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-03-05 | LRATD1 | LRAT domain containing 1 | FAM84A | family with sequence similarity 84 member A | Symbol and/or name change | 5135510 | APPROVED |
2015-11-24 | FAM84A | family with sequence similarity 84 member A | family with sequence similarity 84, member A | Symbol and/or name change | 5135510 | APPROVED |