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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chloracne | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17101203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| congenital nonspherocytic hemolytic anemia | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16672222 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway Annotations
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Phenotype Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | OMIM Disease Annotation Pipeline |
| 3. | Pipeline to import KEGG annotations from KEGG into RGD |
| 4. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | RGD automated import pipeline for gene-chemical interactions |
| 6. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 7818506 8557639 8889549 9428647 10942414 10984440 11042152 11076863 11230166 11369620 11795870 12418222 12477932 12714505 12930399 15238149 15489334 15489336 15604219 16344560 16381901 16712791 17349762 18499901 18775979 19623099 20877624 21478870 21873635 21988832 23139015 23223233 23284306 23824909 25000516 25153905 25910212 26186194 26288249 26496610 26972000 27381654 28514442 29463777 |
Comparative Map Data| NT5C3A (Homo sapiens - human) |
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| Nt5c3 (Mus musculus - house mouse) |
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| Nt5c3a (Rattus norvegicus - Norway rat) |
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| Nt5c3a (Chinchilla lanigera - long-tailed chinchilla) |
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| NT5C3A (Pan paniscus - bonobo/pygmy chimpanzee) |
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| NT5C3A (Canis lupus familiaris - dog) |
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| Nt5c3a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| NT5C3A (Sus scrofa - pig) |
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Position Markers| D7S746 |
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| RH99188 |
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| ECD07134 |
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| ECD13033 |
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| REN5352 |
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| REN5354 |
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| REN5355 |
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| REN5356 |
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| REN5357 |
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| NT5C3_9690 |
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| RH16522 |
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| RH65871 |
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| RH46946 |
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| GDB:1317406 |
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| stSG618293 |
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miRNA Target Status
| 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. |
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RNA-SEQ Expression| leukocyte | zone of skin | lymph node | large intestine | breast | prefrontal cortex | testis | stomach | heart | brain | cerebral cortex | ovary | adipose tissue | esophagus | saliva-secreting gland | rectum | skeletal muscle tissue | smooth muscle tissue | vermiform appendix | colon | sigmoid colon | renal pelvis | cortex of kidney | urinary bladder | pancreas | endometrium | muscle of leg | muscle of arm | skeletal muscle of trunk | temporal lobe | forebrain | placenta | hindbrain | cerebellum | thyroid gland | lung | spleen | liver | small intestine | gall bladder | kidney | duodenum | spinal cord | prostate gland | adrenal gland | thymus | bone marrow | tonsil | fallopian tube | left kidney | frontal lobe | left renal pelvis | right renal pelvis | |
| High | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 1 | 1 | 2 | 1 | 20 | 1 | 13 | 2 | 1 | 15 | 3 | 1 | 1 | 6 | 1 | 1 | 2 | 1 | 1 | 1 | 1 | 19 | 1 | 11 | 2 | 3 | 2 | 13 | 2 | 1 | 18 | 1 | 2 | 3 | 1 | 1 | 1 | ||||||||||||||||
| Low | 1 | 3 | 10 | 1 | 1 | 1 | 1 | 1 | 12 | 3 | 1 | ||||||||||||||||||||||||||||||||||||||||||
| Below cutoff |
Nucleotide Sequences| RefSeq Transcripts | NG_015800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001002009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001002010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001166118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001356996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001374335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001374336 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001374337 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001374338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001374339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_016489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AA482595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AACC02000103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC074338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC083863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF151067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF312735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK290118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK314109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL136716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AW339593 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC013292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC015856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC066914 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC071652 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BF790086 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CB127255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CB127877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CB137440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR533518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA975244 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB243020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB346026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| HY012697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| N98231 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | ENST00000381626 ⟹ ENSP00000371039 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000405342 ⟹ ENSP00000385261 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000409467 ⟹ ENSP00000387166 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000409787 ⟹ ENSP00000387205 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000449201 ⟹ ENSP00000401161 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000456458 ⟹ ENSP00000389676 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000461851 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000464840 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000473083 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000497542 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000610140 ⟹ ENSP00000476480 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000643244 ⟹ ENSP00000496364 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001002009 ⟹ NP_001002009 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
CGTGATGCTCTGGGATCCCGCGCTTCCGAGACTCGCAGTCTACGCGAGCTGCCTGTTTTTTTCChide sequence |
| RefSeq Acc Id: | NM_001002010 ⟹ NP_001002010 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GGGGCGGGGCGTCGCGGGCTCGTCCGTGATGCTCTGGGATCCCGCGCTTCCGAGACTCGCAGTChide sequence |
| RefSeq Acc Id: | NM_001166118 ⟹ NP_001159590 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
TTTTCTTTCCAGAGCCAGTTGCCAGTTCTAATAGTACAGATTTACCTTCTCTTTAATCGTCACAhide sequence |
| RefSeq Acc Id: | NM_001356996 ⟹ NP_001343925 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTTTCTTTCCAGAGCCAGTTGCCAGTTCTAATAGTACAGATTTACCTTCTCTTTAATCGTCACAhide sequence |
| RefSeq Acc Id: | NM_001374335 ⟹ NP_001361264 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001374336 ⟹ NP_001361265 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001374337 ⟹ NP_001361266 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001374338 ⟹ NP_001361267 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001374339 ⟹ NP_001361268 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_016489 ⟹ NP_057573 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
TTTTCTTTCCAGAGCCAGTTGCCAGTTCTAATAGTACAGATTTACCTTCTCTTTAATCGTCACAhide sequence |
Protein Sequences| Protein RefSeqs | NP_001002009 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001002010 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001159590 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001343925 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001361264 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001361265 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001361266 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001361267 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001361268 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_057573 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF36153 | (Get FASTA) | NCBI Sequence Viewer |
| AAG33630 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH13292 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH15856 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH66914 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH71652 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF82807 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG36802 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB66650 | (Get FASTA) | NCBI Sequence Viewer | |
| CAG38549 | (Get FASTA) | NCBI Sequence Viewer | |
| EAL24463 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW94007 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW94008 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW94009 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW94010 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW94011 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9H0P0 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001002010 ⟸ NM_001002010 |
| - Peptide Label: | isoform 1 |
| - Sequence: |
MDRAAVARVGAVASASVCALVAGVVLAQYIFTLKRKTGRKTKIIEMMPEFQKSSVRIKNPTRVEhide sequence |
| RefSeq Acc Id: | NP_057573 ⟸ NM_016489 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q9H0P0 (UniProtKB/Swiss-Prot), A0A024RA81 (UniProtKB/TrEMBL) |
| - Sequence: |
MTNQESAVHVKMMPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRChide sequence |
| RefSeq Acc Id: | NP_001159590 ⟸ NM_001166118 |
| - Peptide Label: | isoform 3 |
| - UniProtKB: | Q9H0P0 (UniProtKB/Swiss-Prot), A0A090N7U2 (UniProtKB/TrEMBL) |
| - Sequence: |
MPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLhide sequence |
| RefSeq Acc Id: | NP_001002009 ⟸ NM_001002009 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q9H0P0 (UniProtKB/Swiss-Prot), A0A024RA81 (UniProtKB/TrEMBL) |
| - Sequence: |
MTNQESAVHVKMMPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRChide sequence |
| RefSeq Acc Id: | NP_001343925 ⟸ NM_001356996 |
| - Peptide Label: | isoform 3 |
| - Sequence: |
MPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLhide sequence |
| RefSeq Acc Id: | NP_001361264 ⟸ NM_001374335 |
| - Peptide Label: | isoform 4 |
| RefSeq Acc Id: | NP_001361267 ⟸ NM_001374338 |
| - Peptide Label: | isoform 5 |
| RefSeq Acc Id: | NP_001361268 ⟸ NM_001374339 |
| - Peptide Label: | isoform 6 |
| RefSeq Acc Id: | NP_001361265 ⟸ NM_001374336 |
| - Peptide Label: | isoform 3 |
| RefSeq Acc Id: | NP_001361266 ⟸ NM_001374337 |
| - Peptide Label: | isoform 3 |
| RefSeq Acc Id: | ENSP00000476480 ⟸ ENST00000610140 |
| RefSeq Acc Id: | ENSP00000389676 ⟸ ENST00000456458 |
| RefSeq Acc Id: | ENSP00000385261 ⟸ ENST00000405342 |
| RefSeq Acc Id: | ENSP00000496364 ⟸ ENST00000643244 |
| RefSeq Acc Id: | ENSP00000387205 ⟸ ENST00000409787 |
| RefSeq Acc Id: | ENSP00000387166 ⟸ ENST00000409467 |
| RefSeq Acc Id: | ENSP00000371039 ⟸ ENST00000381626 |
| RefSeq Acc Id: | ENSP00000401161 ⟸ ENST00000449201 |
Promoters| RGD ID: | 6805537 | |||||||||
| Promoter ID: | HG_KWN:56912 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | Lymphoblastoid | |||||||||
| Transcripts: | ENST00000405342, ENST00000409787, UC003TDL.1 | |||||||||
| Position: |
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| RGD ID: | 6805969 | |||||||||
| Promoter ID: | HG_KWN:56913 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid | |||||||||
| Transcripts: | ENST00000409467, NM_001166118, OTTHUMT00000328883, OTTHUMT00000328884, OTTHUMT00000328885, OTTHUMT00000328889 | |||||||||
| Position: |
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| RGD ID: | 7210343 | |||||||||
| Promoter ID: | EPDNEW_H10916 | |||||||||
| Type: | initiation region | |||||||||
| Name: | NT5C3A_1 | |||||||||
| Description: | 5'-nucleotidase, cytosolic IIIA | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H10917 | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7210341 | |||||||||
| Promoter ID: | EPDNEW_H10917 | |||||||||
| Type: | initiation region | |||||||||
| Name: | NT5C3A_2 | |||||||||
| Description: | 5'-nucleotidase, cytosolic IIIA | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H10916 | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 6805963 | |||||||||
| Promoter ID: | HG_KWN:56915 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000381626, NM_001002010 | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_016489.13(NT5C3A):c.293A>T (p.Asp98Val) | single nucleotide variant | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004736] | Chr7:33021317 [GRCh38] Chr7:33060929 [GRCh37] Chr7:7p14.3 |
pathogenic |
| NM_016489.13(NT5C3A):c.529C>T (p.Gln177Ter) | single nucleotide variant | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004737] | Chr7:33017501 [GRCh38] Chr7:33057113 [GRCh37] Chr7:7p14.3 |
pathogenic |
| NM_016489.13(NT5C3A):c.592-1G>T | single nucleotide variant | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004738] | Chr7:33015871 [GRCh38] Chr7:33055483 [GRCh37] Chr7:7p14.3 |
pathogenic |
| NM_016489.13(NT5C3A):c.742_743dup (p.Val249fs) | duplication | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004739] | Chr7:33015718..33015719 [GRCh38] Chr7:33055330..33055331 [GRCh37] Chr7:7p14.3 |
pathogenic |
| NM_016489.13(NT5C3A):c.543T>G (p.Tyr181Ter) | single nucleotide variant | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004740] | Chr7:33017487 [GRCh38] Chr7:33057099 [GRCh37] Chr7:7p14.3 |
pathogenic |
| NM_016489.13(NT5C3A):c.592-1G>C | single nucleotide variant | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004742] | Chr7:33015871 [GRCh38] Chr7:33055483 [GRCh37] Chr7:7p14.3 |
pathogenic |
| NM_016489.13(NT5C3A):c.569A>G (p.Asn190Ser) | single nucleotide variant | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004743] | Chr7:33017461 [GRCh38] Chr7:33057073 [GRCh37] Chr7:7p14.3 |
pathogenic |
| NM_016489.13(NT5C3A):c.577del (p.Asp193fs) | deletion | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004744] | Chr7:33017454 [GRCh38] Chr7:33057066 [GRCh37] Chr7:7p14.3 |
pathogenic |
| NM_016489.13(NT5C3A):c.721G>C (p.Gly241Arg) | single nucleotide variant | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004745] | Chr7:33015741 [GRCh38] Chr7:33055353 [GRCh37] Chr7:7p14.3 |
pathogenic |
| GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 | copy number gain | Global developmental delay [RCV000051159]|See cases [RCV000051159] | Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1 |
pathogenic |
| GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051178]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051178]|See cases [RCV000051178] | Chr7:30420933..34560665 [GRCh38] Chr7:30460549..34600277 [GRCh37] Chr7:30427074..34566802 [NCBI36] Chr7:7p14.3 |
pathogenic |
| GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 | copy number loss | Ambiguous genitalia [RCV000052250]|See cases [RCV000052250] | Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053530]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053530]|See cases [RCV000053530] | Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2 |
pathogenic |
| NM_016489.12(NT5C3A):c.384dupA (p.Ala129Serfs) | duplication | Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004741] | Chr7:33019679 [GRCh38] Chr7:33059291 [GRCh37] Chr7:7p14.3 |
pathogenic |
| GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 | copy number loss | See cases [RCV000135401] | Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1 | copy number loss | See cases [RCV000140283] | Chr7:32678391..41044983 [GRCh38] Chr7:32718003..41084581 [GRCh37] Chr7:32684528..41051106 [NCBI36] Chr7:7p14.3-14.1 |
pathogenic |
| GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1 | copy number loss | See cases [RCV000141441] | Chr7:30938370..33400996 [GRCh38] Chr7:30977985..33440608 [GRCh37] Chr7:30944510..33407133 [NCBI36] Chr7:7p14.3 |
likely pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 | copy number loss | See cases [RCV000446044] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| NM_016489.13(NT5C3A):c.223A>C (p.Lys75Gln) | single nucleotide variant | not provided [RCV000757573] | Chr7:33022082 [GRCh38] Chr7:33061694 [GRCh37] Chr7:7p14.3 |
uncertain significance |
| TMEM106B-BRAF fusion | deletion | Pleomorphic xanthoastrocytoma [RCV000454357] | Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34 |
pathogenic |
| GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 | copy number gain | See cases [RCV000446478] | Chr7:11562624..36395416 [GRCh37] Chr7:7p21.3-14.2 |
pathogenic |
| GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1 | copy number loss | See cases [RCV000446955] | Chr7:32911003..44576005 [GRCh37] Chr7:7p14.3-13 |
pathogenic |
| GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 | copy number gain | See cases [RCV000512091] | Chr7:11048840..52863626 [GRCh37] Chr7:7p21.3-12.1 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) | copy number gain | See cases [RCV000510686] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| NM_016489.13(NT5C3A):c.276T>C (p.Tyr92=) | single nucleotide variant | not specified [RCV000506680] | Chr7:33021334 [GRCh38] Chr7:33060946 [GRCh37] Chr7:7p14.3 |
benign |
| GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 | copy number gain | See cases [RCV000511549] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3 | copy number gain | not provided [RCV000682909] | Chr7:30463886..43470805 [GRCh37] Chr7:7p14.3-13 |
pathogenic |
| NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv | inversion | Speech-language disorder 1 [RCV000234948] | Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 | copy number gain | not provided [RCV000746278] | Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 | copy number gain | not provided [RCV000746280] | Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p14.3(chr7:33053281-33185898)x3 | copy number gain | not provided [RCV000746607] | Chr7:33053281..33185898 [GRCh37] Chr7:7p14.3 |
benign |
| NM_016489.13(NT5C3A):c.759G>A (p.Glu253=) | single nucleotide variant | not provided [RCV000961779] | Chr7:33015703 [GRCh38] Chr7:33055315 [GRCh37] Chr7:7p14.3 |
benign |
| NM_016489.13(NT5C3A):c.306T>C (p.Thr102=) | single nucleotide variant | not provided [RCV000967044] | Chr7:33021304 [GRCh38] Chr7:33060916 [GRCh37] Chr7:7p14.3 |
benign |
| GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 | copy number gain | not provided [RCV000848126] | Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p14.3(chr7:33074784-33084764)x1 | copy number loss | not provided [RCV000848053] | Chr7:33074784..33084764 [GRCh37] Chr7:7p14.3 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:17820 | AgrOrtholog |
| COSMIC | NT5C3A | COSMIC |
| Ensembl Genes | ENSG00000122643 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000371039 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000385261 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000387166 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000387205 | UniProtKB/TrEMBL | |
| ENSP00000389676 | UniProtKB/TrEMBL | |
| ENSP00000401161 | UniProtKB/TrEMBL | |
| ENSP00000476480 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000496364 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000381626 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000405342 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000409467 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000409787 | UniProtKB/TrEMBL | |
| ENST00000449201 | UniProtKB/TrEMBL | |
| ENST00000456458 | UniProtKB/TrEMBL | |
| ENST00000610140 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000643244 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 3.40.50.1000 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000122643 | GTEx |
| HGNC ID | HGNC:17820 | ENTREZGENE |
| Human Proteome Map | NT5C3A | Human Proteome Map |
| InterPro | HAD-like_sf | UniProtKB/Swiss-Prot |
| HAD_sf | UniProtKB/Swiss-Prot | |
| Pyrimidine_nucleotidase_eu | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:51251 | UniProtKB/Swiss-Prot |
| NCBI Gene | 51251 | ENTREZGENE |
| OMIM | 266120 | OMIM |
| 606224 | OMIM | |
| Pfam | UMPH-1 | UniProtKB/Swiss-Prot |
| PharmGKB | PA31802 | PharmGKB |
| Superfamily-SCOP | SSF56784 | UniProtKB/Swiss-Prot |
| TIGRFAMs | HAD-SF-IE | UniProtKB/Swiss-Prot |
| UniGene | Hs.487933 | ENTREZGENE |
| UniProt | 5NT3A_HUMAN | UniProtKB/Swiss-Prot |
| A0A024RA81 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A090N7U2 | ENTREZGENE, UniProtKB/TrEMBL | |
| B9A035_HUMAN | UniProtKB/TrEMBL | |
| C9K084_HUMAN | UniProtKB/TrEMBL | |
| F8WDR0_HUMAN | UniProtKB/TrEMBL | |
| Q9H0P0 | ENTREZGENE | |
| X6RM59_HUMAN | UniProtKB/TrEMBL | |
| UniProt Secondary | A8K253 | UniProtKB/Swiss-Prot |
| B2RAA5 | UniProtKB/Swiss-Prot | |
| B8ZZC4 | UniProtKB/Swiss-Prot | |
| Q6IPZ1 | UniProtKB/Swiss-Prot | |
| Q6NXS6 | UniProtKB/Swiss-Prot | |
| Q7L3G6 | UniProtKB/Swiss-Prot | |
| Q9P0P5 | UniProtKB/Swiss-Prot | |
| Q9UC42 | UniProtKB/Swiss-Prot | |
| Q9UC43 | UniProtKB/Swiss-Prot | |
| Q9UC44 | UniProtKB/Swiss-Prot | |
| Q9UC45 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2013-03-12 | NT5C3A | 5'-nucleotidase, cytosolic IIIA | NT5C3 | 5'-nucleotidase, cytosolic III | Symbol and/or name change | 5135510 | APPROVED |
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| More on NT5C3A | |
|
Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1323774 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-12-25 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
