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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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| malignant mesothelioma | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:26818092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway 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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References - curated| 1. | Drakesmith H, etal., Cell Metab. 2015 Nov 3;22(5):777-87. doi: 10.1016/j.cmet.2015.09.006. Epub 2015 Oct 1. |
| 2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 3. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 9734811 9988272 10843811 11891802 11932491 12168954 12477932 12949720 12975309 14702039 15146197 15342556 15489334 16137899 16274220 17486601 18022819 19452451 20019163 20587610 20932654 21802403 21873635 22170436 22268729 22503983 22666411 22961397 23640881 24988611 30442766 30647129 |
Comparative Map Data| HEPH (Homo sapiens - human) |
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| Heph (Mus musculus - house mouse) |
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| Heph (Rattus norvegicus - Norway rat) |
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| Heph (Chinchilla lanigera - long-tailed chinchilla) |
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| HEPH (Pan paniscus - bonobo/pygmy chimpanzee) |
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| HEPH (Canis lupus familiaris - dog) |
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| Heph (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| HEPH (Sus scrofa - pig) |
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| HEPH (Chlorocebus sabaeus - green monkey) |
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| Heph (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| DXS1194 |
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| RH99071 |
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| DXS1159 |
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| G64132 |
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| G64106 |
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| HEPH__6713 |
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| AL031099 |
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| HEPH |
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| DXS1194 |
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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| uterine cervix | nose | pituitary gland | peripheral nervous system | zone of skin | lymph node | large intestine | oral cavity | blood | breast | throat | mucosa | prefrontal cortex | testis | stomach | heart | brain | cerebral cortex | eye | pleura | penis | ovary | uterus | vagina | mammalian vulva | seminal vesicle | vas deferens | adipose tissue | musculature | chordate pharynx | esophagus | saliva-secreting gland | rectum | diaphragm | skeletal muscle tissue | smooth muscle tissue | caecum | vermiform appendix | colon | sigmoid colon | renal pelvis | cortex of kidney | urinary bladder | pancreas | endometrium | epididymis | muscle of leg | muscle of arm | artery | nasal septum | tongue | submandibular gland | skeletal muscle of trunk | parotid gland | temporal lobe | parietal lobe | caudate nucleus | putamen | globus pallidus | amygdala | forebrain | diencephalon | medulla oblongata | pineal body | placenta | occipital lobe | hindbrain | cerebellum | substantia nigra | thyroid gland | lung | left cardiac atrium | spleen | liver | small intestine | gall bladder | kidney | duodenum | ileum | tricuspid valve | mitral valve | pulmonary valve | locus ceruleus | spinal cord | umbilical cord | dura mater | prostate gland | adrenal gland | thymus | bone marrow | tonsil | connective tissue | hematopoietic system | cartilage tissue | hippocampal formation | bone tissue | middle frontal gyrus | middle temporal gyrus | trachea | brain meninx | mouth mucosa | fallopian tube | left kidney | dorsal thalamus | umbilical cord blood | frontal lobe | occipital cortex | left renal pelvis | right renal pelvis | distal gut | proximal gut | terminal ileum | |
| High | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 2 | 188 | 1 | 73 | 21 | 61 | 1 | 19 | 35 | 16 | 28 | 1 | 63 | 9 | 9 | 2 | 1 | 1 | 1 | 24 | 2 | 1 | 1 | 5 | 71 | 1 | 1 | 5 | 11 | 2 | 22 | 1 | 8 | 3 | 2 | 51 | 1 | 1 | 1 | 12 | 4 | 1 | 4 | 3 | 2 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Low | 20 | 1 | 1 | 3 | 48 | 2 | 8 | 433 | 52 | 1 | 1 | 8 | 20 | 9 | 47 | 1 | 1 | 1 | 48 | 35 | 1 | 1 | 1 | 3 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 9 | 21 | 10 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 1 | 1 | 14 | 1 | 1 | 1 | 2 | 1 | 2 | 1 | 48 | 88 | 1 | 2 | 179 | 1 | 1 | 167 | 1 | 1 | 1 | 1 | 1 | 2 | 1 | 1 | 12 | 1 | 2 | 1 | 1 | 16 | 1 | 7 | 1 | 1 | 1 | 1 | 36 | 1 | 3 | 1 | 1 | |||||||||||||||||||||||
| Below cutoff | 2 | 6 | 23 | 2 | 2 | 1 | 60 | 13 | 7 | 1 | 3 | 12 | 1 | 20 | 2 | 1 | 1 | 1 | 5 | 1 | 6 | 1 | 8 | 4 | 5 | 1 | 1 | 1 | 2 | 1 | 6 | 36 | 31 | 22 | 3 | 2 | 1 | 14 | 1 | 8 | 5 | 4 |
Nucleotide Sequences| RefSeq Transcripts | NG_016265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001130860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001282141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367232 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367233 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367234 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367236 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367238 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367240 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367242 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367243 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_014799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_138737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_159800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_159801 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_159802 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011531073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011531074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011531075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017029998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB014598 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AF075034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF148860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AJ296162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK022472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK294278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK295456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK307761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK311043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK316231 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL030998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL157698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY358990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC011561 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BP282214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CN361718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DQ496100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF459144 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF459146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | ENST00000336279 ⟹ ENSP00000337418 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000343002 ⟹ ENSP00000343939 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000419594 ⟹ ENSP00000413211 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000425114 ⟹ ENSP00000398078 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000429547 ⟹ ENSP00000392319 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000441993 ⟹ ENSP00000411687 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000458621 ⟹ ENSP00000396907 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000471121 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000519389 ⟹ ENSP00000430620 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001130860 ⟹ NP_001124332 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
CCCCAGAGGAACAGGACATTCCAGTAGTTTTGTTTCTGGAAAAGAGGGCACCCAGCCCTTCCCChide sequence |
| RefSeq Acc Id: | NM_001282141 ⟹ NP_001269070 | |||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||
| Type: | CODING | |||||||||||||||||||
| Position: |
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| Sequence: |
CCCCAGAGGAACAGGACATTCCAGTAGTTTTGTTTCTGGAAAAGAGGGCACCCAGCCCTTCCCChide sequence |
| RefSeq Acc Id: | NM_001367232 ⟹ NP_001354161 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001367233 ⟹ NP_001354162 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001367234 ⟹ NP_001354163 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001367236 ⟹ NP_001354165 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001367238 ⟹ NP_001354167 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001367239 ⟹ NP_001354168 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001367240 ⟹ NP_001354169 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001367241 ⟹ NP_001354170 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001367242 ⟹ NP_001354171 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001367243 ⟹ NP_001354172 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_014799 ⟹ NP_055614 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
CCCCAGAGGAACAGGACATTCCAGTAGTTTTGTTTCTGGAAAAGAGGGCACCCAGCCCTTCCCChide sequence |
| RefSeq Acc Id: | NM_138737 ⟹ NP_620074 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AATTCTAGGGGCTGCCATGGCTTGGCTAAGCTTCCCTTGACCACTGAGCATTTCTAAGGGAGTThide sequence |
| RefSeq Acc Id: | NR_159800 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NR_159801 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NR_159802 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | XM_011531073 ⟹ XP_011529375 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTTCACATGTGTGCGAGGCAGATAATTCTAGGGGCTGCCATGGCTTGGCTAAGCTTCCCTTGAChide sequence |
| RefSeq Acc Id: | XM_011531074 ⟹ XP_011529376 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTCACATGTGTGCGAGGCAGATAATTCTAGGGGCTGCCATGGCTTGGCTAAGCTTCCCTTGACChide sequence |
| RefSeq Acc Id: | XM_011531075 ⟹ XP_011529377 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTCACATGTGTGCGAGGCAGATAATTCTAGGGGCTGCCATGGCTTGGCTAAGCTTCCCTTGACChide sequence |
| RefSeq Acc Id: | XM_017029998 ⟹ XP_016885487 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTTCACATGTGTGCGAGGCAGATAATTCTAGGGGCTGCCATGGCTTGGCTAAGCTTCCCTTGAChide sequence |
Protein Sequences| Protein RefSeqs | NP_001124332 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001269070 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354161 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354162 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354163 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354165 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354167 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354168 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354169 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354170 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354171 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354172 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_055614 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_620074 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011529375 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011529376 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011529377 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016885487 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH11561 | (Get FASTA) | NCBI Sequence Viewer |
| AAK08131 | (Get FASTA) | NCBI Sequence Viewer | |
| AAQ89349 | (Get FASTA) | NCBI Sequence Viewer | |
| ABF47089 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA31673 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG57564 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG58390 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH14602 | (Get FASTA) | NCBI Sequence Viewer | |
| CAC35365 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX05384 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX05385 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX05386 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX05387 | (Get FASTA) | NCBI Sequence Viewer | |
| EAX05388 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9BQS7 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_620074 ⟸ NM_138737 |
| - Peptide Label: | isoform a |
| - UniProtKB: | Q9BQS7 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MTQTLPYHLSLLNVLFPGPCSRHFKFRRGKCAQPAWRKVSAPSQDLLITKVMWAMESGHLLWALhide sequence |
| RefSeq Acc Id: | NP_001124332 ⟸ NM_001130860 |
| - Peptide Label: | isoform c precursor |
| - UniProtKB: | Q9BQS7 (UniProtKB/Swiss-Prot), A0A0C4DG76 (UniProtKB/TrEMBL) |
| - Sequence: |
MWAMESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASSFhide sequence |
| RefSeq Acc Id: | NP_055614 ⟸ NM_014799 |
| - Peptide Label: | isoform b |
| - UniProtKB: | Q9BQS7 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MHAINGFVFGNLPELNMCAQKRVAWHLFGMGNEIDVHTAFFHGQMLTTRGHHTDVANIFPATFVhide sequence |
| RefSeq Acc Id: | NP_001269070 ⟸ NM_001282141 |
| - Peptide Label: | isoform d precursor |
| - UniProtKB: | Q9BQS7 (UniProtKB/Swiss-Prot), E7ES21 (UniProtKB/TrEMBL) |
| - Sequence: |
MWAMESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASSFhide sequence |
| RefSeq Acc Id: | XP_011529375 ⟸ XM_011531073 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MTQTLPYHLSLLNVLFPGPCSRHFKFRRGKCAQPAWRKVSAPSQDLLITKVMWAMESGHLLWALhide sequence |
| RefSeq Acc Id: | XP_011529377 ⟸ XM_011531075 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MTQTLPYHLSLLNVLFPGPCSRHFKFRRGKCAQPAWRKVSAPSQDLLITKVMWAMESGHLLWALhide sequence |
| RefSeq Acc Id: | XP_011529376 ⟸ XM_011531074 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MTQTLPYHLSLLNVLFPGPCSRHFKFRRGKCAQPAWRKVSAPSQDLLITKVMWAMESGHLLWALhide sequence |
| RefSeq Acc Id: | XP_016885487 ⟸ XM_017029998 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MTQTLPYHLSLLNVLFPGPCSRHFKFRRGKCAQPAWRKVSAPSQDLLITKVMWAMESGHLLWALhide sequence |
| RefSeq Acc Id: | NP_001354161 ⟸ NM_001367232 |
| - Peptide Label: | isoform e precursor |
| RefSeq Acc Id: | NP_001354171 ⟸ NM_001367242 |
| - Peptide Label: | isoform b |
| RefSeq Acc Id: | NP_001354162 ⟸ NM_001367233 |
| - Peptide Label: | isoform e precursor |
| RefSeq Acc Id: | NP_001354169 ⟸ NM_001367240 |
| - Peptide Label: | isoform i precursor |
| RefSeq Acc Id: | NP_001354167 ⟸ NM_001367238 |
| - Peptide Label: | isoform g precursor |
| RefSeq Acc Id: | NP_001354172 ⟸ NM_001367243 |
| - Peptide Label: | isoform k precursor |
| RefSeq Acc Id: | NP_001354165 ⟸ NM_001367236 |
| - Peptide Label: | isoform f precursor |
| RefSeq Acc Id: | NP_001354170 ⟸ NM_001367241 |
| - Peptide Label: | isoform j precursor |
| RefSeq Acc Id: | NP_001354168 ⟸ NM_001367239 |
| - Peptide Label: | isoform h precursor |
| RefSeq Acc Id: | NP_001354163 ⟸ NM_001367234 |
| - Peptide Label: | isoform e precursor |
| RefSeq Acc Id: | ENSP00000398078 ⟸ ENST00000425114 |
| RefSeq Acc Id: | ENSP00000430620 ⟸ ENST00000519389 |
| RefSeq Acc Id: | ENSP00000337418 ⟸ ENST00000336279 |
| RefSeq Acc Id: | ENSP00000392319 ⟸ ENST00000429547 |
| RefSeq Acc Id: | ENSP00000411687 ⟸ ENST00000441993 |
| RefSeq Acc Id: | ENSP00000396907 ⟸ ENST00000458621 |
| RefSeq Acc Id: | ENSP00000413211 ⟸ ENST00000419594 |
| RefSeq Acc Id: | ENSP00000343939 ⟸ ENST00000343002 |
Promoters| RGD ID: | 6808912 | |||||||||
| Promoter ID: | HG_KWN:67075 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562 | |||||||||
| Transcripts: | OTTHUMT00000056994 | |||||||||
| Position: |
|
| RGD ID: | 6808910 | |||||||||
| Promoter ID: | HG_KWN:67076 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562 | |||||||||
| Transcripts: | ENST00000336279, NM_001130860, OTTHUMT00000056998, OTTHUMT00000346500, UC010NKR.1 | |||||||||
| Position: |
|
| RGD ID: | 6808915 | |||||||||
| Promoter ID: | HG_KWN:67077 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562 | |||||||||
| Transcripts: | OTTHUMT00000056997, UC004DWP.1 | |||||||||
| Position: |
|
| RGD ID: | 6808914 | |||||||||
| Promoter ID: | HG_KWN:67078 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562 | |||||||||
| Transcripts: | OTTHUMT00000346501 | |||||||||
| Position: |
|
| RGD ID: | 6808916 | |||||||||
| Promoter ID: | HG_KWN:67079 | |||||||||
| Type: | Non-CpG | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | K562 | |||||||||
| Transcripts: | UC010NKS.1 | |||||||||
| Position: |
|
| RGD ID: | 13627323 | |||||||||
| Promoter ID: | EPDNEW_H28937 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HEPH_4 | |||||||||
| Description: | hephaestin | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H28939 EPDNEW_H28938 EPDNEW_H28940 EPDNEW_H28941 | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 13627325 | |||||||||
| Promoter ID: | EPDNEW_H28938 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HEPH_3 | |||||||||
| Description: | hephaestin | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H28939 EPDNEW_H28937 EPDNEW_H28940 EPDNEW_H28941 | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 13627321 | |||||||||
| Promoter ID: | EPDNEW_H28939 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HEPH_1 | |||||||||
| Description: | hephaestin | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H28937 EPDNEW_H28938 EPDNEW_H28940 EPDNEW_H28941 | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 13627327 | |||||||||
| Promoter ID: | EPDNEW_H28940 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HEPH_2 | |||||||||
| Description: | hephaestin | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H28939 EPDNEW_H28937 EPDNEW_H28938 EPDNEW_H28941 | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 13627329 | |||||||||
| Promoter ID: | EPDNEW_H28941 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HEPH_5 | |||||||||
| Description: | hephaestin | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H28939 EPDNEW_H28937 EPDNEW_H28938 EPDNEW_H28940 | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 | copy number gain | See cases [RCV000133911] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
| NM_014799.3(HEPH):c.1763-21635T>C | single nucleotide variant | Lung cancer [RCV000102714] | ChrX:66233400 [GRCh38] ChrX:65453242 [GRCh37] ChrX:Xq12 |
uncertain significance |
| NM_014799.3(HEPH):c.1763-1624C>T | single nucleotide variant | Lung cancer [RCV000102715] | ChrX:66253411 [GRCh38] ChrX:65473253 [GRCh37] ChrX:Xq12 |
uncertain significance |
| NM_014799.3(HEPH):c.2398+1237C>T | single nucleotide variant | Lung cancer [RCV000102716] | ChrX:66261499 [GRCh38] ChrX:65481341 [GRCh37] ChrX:Xq12 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 | copy number gain | Ventricular septal defect [RCV000050889]|See cases [RCV000050889] | ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050810]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050810]|See cases [RCV000050810] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050811]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050811]|See cases [RCV000050811] | ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | Coarse facial features [RCV000050699]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050700]|See cases [RCV000050699] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | Global developmental delay [RCV000050386]|See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050697]|Postaxial polydactyly A5 [RCV000050698]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050697]|See cases [RCV000050697] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 | copy number loss | Global developmental delay [RCV000051665]|See cases [RCV000051665] | ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 | copy number loss | Global developmental delay [RCV000051666]|See cases [RCV000051666] | ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 | copy number gain | Obesity [RCV000052322]|See cases [RCV000052322] | ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052359]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052359]|See cases [RCV000052359] | ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] | ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 | copy number gain | Hypertelorism [RCV000052324]|See cases [RCV000052324] | ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052415]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052415]|See cases [RCV000052415] | ChrX:62712219..71136309 [GRCh38] ChrX:61931689..70356159 [GRCh37] ChrX:61848414..70272884 [NCBI36] ChrX:Xq11.1-13.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052325]|See cases [RCV000052325] | ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 | copy number loss | Global developmental delay [RCV000053005]|See cases [RCV000053005] | ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| NM_014799.3(HEPH):c.483C>T (p.Tyr161=) | single nucleotide variant | Malignant melanoma [RCV000073238] | ChrX:66193553 [GRCh38] ChrX:65413395 [GRCh37] ChrX:65330120 [NCBI36] ChrX:Xq12 |
not provided |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 | copy number gain | See cases [RCV000133654] | ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 | copy number loss | See cases [RCV000133792] | ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 | copy number loss | See cases [RCV000050386] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 | copy number gain | See cases [RCV000050385] | ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 | copy number loss | See cases [RCV000052986] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 | copy number gain | See cases [RCV000052984] | ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 | copy number loss | See cases [RCV000052982] | ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 | copy number gain | See cases [RCV000134564] | ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 | copy number gain | See cases [RCV000134569] | ChrX:62712219..78605009 [GRCh38] ChrX:61931689..77860506 [GRCh37] ChrX:61848414..77747162 [NCBI36] ChrX:Xq11.1-21.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 | copy number loss | See cases [RCV000133947] | ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 | copy number gain | See cases [RCV000134025] | ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 | copy number loss | See cases [RCV000135300] | ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 | copy number loss | See cases [RCV000135321] | ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 | copy number loss | See cases [RCV000135306] | ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 | copy number loss | See cases [RCV000135552] | ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 | copy number loss | See cases [RCV000136097] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 | copy number loss | See cases [RCV000136478] | ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) | copy number loss | See cases [RCV000136094] | ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 | copy number loss | See cases [RCV000136005] | ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 | copy number gain | See cases [RCV000137137] | ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 | copy number gain | See cases [RCV000136791] | ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 | copy number gain | See cases [RCV000136841] | ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 | copy number gain | See cases [RCV000137553] | ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 | copy number loss | See cases [RCV000137414] | ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1 |
pathogenic|likely benign |
| GRCh38/hg38 Xq12(chrX:66077618-67113715)x3 | copy number gain | See cases [RCV000138066] | ChrX:66077618..67113715 [GRCh38] ChrX:65297460..66333557 [GRCh37] ChrX:65214185..66250282 [NCBI36] ChrX:Xq12 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 | copy number loss | See cases [RCV000137886] | ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3 |
pathogenic |
| GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 | copy number loss | See cases [RCV000138678] | ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 | copy number loss | See cases [RCV000139278] | ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 | copy number gain | See cases [RCV000139416] | ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 | copy number loss | See cases [RCV000139352] | ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31 |
pathogenic |
| GRCh38/hg38 Xq12(chrX:66049830-66301774)x1 | copy number loss | See cases [RCV000139040] | ChrX:66049830..66301774 [GRCh38] ChrX:65269672..65521616 [GRCh37] ChrX:65186397..65438341 [NCBI36] ChrX:Xq12 |
likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 | copy number gain | See cases [RCV000139888] | ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 | copy number gain | See cases [RCV000141400] | ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 | copy number gain | See cases [RCV000141401] | ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 | copy number gain | See cases [RCV000140786] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 | copy number loss | See cases [RCV000140787] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xq12(chrX:65901792-66733457)x2 | copy number gain | See cases [RCV000141544] | ChrX:65901792..66733457 [GRCh38] ChrX:65121634..65953299 [GRCh37] ChrX:65038359..65870024 [NCBI36] ChrX:Xq12 |
uncertain significance |
| GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) | copy number loss | See cases [RCV000141742] | ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24 |
pathogenic |
| GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 | copy number loss | See cases [RCV000142334] | ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12 |
pathogenic |
| GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 | copy number gain | See cases [RCV000142134] | ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 | copy number gain | See cases [RCV000142625] | ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 | copy number loss | See cases [RCV000143349] | ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 | copy number loss | See cases [RCV000143441] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 | copy number gain | See cases [RCV000143433] | ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 | copy number gain | See cases [RCV000143219] | ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 | copy number loss | See cases [RCV000143131] | ChrX:56431359..76557419 [GRCh38] ChrX:56457792..75777827 [GRCh37] ChrX:56474517..75694231 [NCBI36] ChrX:Xp11.21-q13.3 |
pathogenic |
| GRCh38/hg38 Xq12(chrX:66069949-67124285)x2 | copy number gain | See cases [RCV000143736] | ChrX:66069949..67124285 [GRCh38] ChrX:65289791..66344127 [GRCh37] ChrX:65206516..66260852 [NCBI36] ChrX:Xq12 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 | copy number gain | See cases [RCV000148141] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 | copy number loss | See cases [RCV000148135] | ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 | copy number gain | See cases [RCV000240122] | ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 | copy number gain | See cases [RCV000240143] | ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 | copy number gain | See cases [RCV000239843] | ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 | copy number loss | See cases [RCV000239832] | ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 | copy number gain | See cases [RCV000239798] | ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 | copy number gain | See cases [RCV000240106] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 | copy number loss | See cases [RCV000239902] | ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq12-13.1(chrX:64927267-69276852)x3 | copy number gain | See cases [RCV000239973] | ChrX:64927267..69276852 [GRCh37] ChrX:Xq12-13.1 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 | copy number gain | See cases [RCV000239989] | ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 | copy number gain | See cases [RCV000239889] | ChrX:53085607..67176333 [GRCh37] ChrX:Xp11.22-q12 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 | copy number gain | See cases [RCV000239874] | ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 | copy number loss | See cases [RCV000511311] | ChrX:55240087..78225374 [GRCh37] ChrX:Xp11.21-q21.1 |
pathogenic |
| GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 | copy number gain | See cases [RCV000240019] | ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 | copy number gain | See cases [RCV000239934] | ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 | copy number gain | See cases [RCV000240552] | ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 | copy number gain | See cases [RCV000240314] | ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 | copy number gain | See cases [RCV000240464] | ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 | copy number gain | See cases [RCV000240148] | ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 | copy number gain | See cases [RCV000240541] | ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 | copy number gain | not provided [RCV000488046] | ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 | copy number gain | See cases [RCV000449330] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) | copy number loss | See cases [RCV000449461] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 | copy number gain | See cases [RCV000449437] | ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 | copy number gain | See cases [RCV000446270] | ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 | copy number loss | See cases [RCV000446712] | ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 | copy number loss | See cases [RCV000446197] | ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 | copy number loss | See cases [RCV000446667] | ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 | copy number gain | See cases [RCV000446151] | ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | See cases [RCV000446932] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq12(chrX:65057519-66020568)x3 | copy number gain | See cases [RCV000447036] | ChrX:65057519..66020568 [GRCh37] ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 | copy number gain | See cases [RCV000446310] | ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 | copy number gain | See cases [RCV000447253] | ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 | copy number loss | See cases [RCV000446026] | ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 | copy number loss | See cases [RCV000445720] | ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | See cases [RCV000448393] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 | copy number gain | See cases [RCV000448034] | ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 | copy number loss | See cases [RCV000448652] | ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 | copy number loss | See cases [RCV000448870] | ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 | copy number loss | See cases [RCV000510382] | ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 | copy number loss | See cases [RCV000510419] | ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 | copy number gain | See cases [RCV000511787] | ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 | copy number loss | See cases [RCV000512026] | ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1 |
pathogenic |
| GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 | copy number loss | See cases [RCV000511413] | ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) | copy number gain | See cases [RCV000512020] | ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 | copy number gain | See cases [RCV000510826] | ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 | copy number gain | See cases [RCV000511307] | ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) | copy number loss | See cases [RCV000512142] | ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 | copy number gain | See cases [RCV000512173] | ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq12(chrX:65461088-66523361)x2 | copy number gain | not provided [RCV000684340] | ChrX:65461088..66523361 [GRCh37] ChrX:Xq12 |
likely benign |
| GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 | copy number gain | not provided [RCV000684261] | ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31 |
pathogenic |
| NC_000023.10:g.36649710_136649711del100000002insG | indel | Heterotaxy, visceral, X-linked [RCV000754886] | ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3 |
pathogenic |
| GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 | copy number loss | not provided [RCV000753535] | ChrX:48115450..73424191 [GRCh37] ChrX:Xp11.23-q13.2 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 | copy number gain | not provided [RCV000753277] | ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 | copy number loss | not provided [RCV000753271] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 | copy number gain | not provided [RCV000753272] | ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 | copy number loss | not provided [RCV000753278] | ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| Single allele | duplication | Autistic disorder of childhood onset [RCV000754365] | ChrX:1..156040895 [GRCh38] | pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 | copy number gain | not provided [RCV000753276] | ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 | copy number loss | not provided [RCV000753556] | ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28 |
pathogenic |
| NM_014799.4(HEPH):c.1307G>A (p.Ser436Asn) | single nucleotide variant | not provided [RCV000880359] | ChrX:66203394 [GRCh38] ChrX:65423236 [GRCh37] ChrX:Xq12 |
likely benign |
| 46,Y,inv(X)(p21.1q13.3) | inversion | Elevated serum creatine phosphokinase [RCV000856573] | ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3 |
likely pathogenic |
| Single allele | duplication | MECP2 duplication syndrome [RCV000768455] | ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 | copy number loss | not provided [RCV000849932] | ChrX:61882086..69173640 [GRCh37] ChrX:Xq11.1-13.1 |
pathogenic |
| GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 | copy number loss | not provided [RCV000845670] | ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 | copy number loss | not provided [RCV000846274] | ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 | copy number loss | not provided [RCV000848828] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 | copy number gain | not provided [RCV000846039] | ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 | copy number loss | not provided [RCV000848218] | ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28 |
uncertain significance |
| NM_014799.4(HEPH):c.895G>A (p.Gly299Ser) | single nucleotide variant | not provided [RCV000953117] | ChrX:66197877 [GRCh38] ChrX:65417719 [GRCh37] ChrX:Xq12 |
benign |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:4866 | AgrOrtholog |
| COSMIC | HEPH | COSMIC |
| Ensembl Genes | ENSG00000089472 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000337418 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000343939 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000392319 | UniProtKB/TrEMBL | |
| ENSP00000396907 | UniProtKB/TrEMBL | |
| ENSP00000398078 | UniProtKB/TrEMBL | |
| ENSP00000411687 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000413211 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000430620 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000336279 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000343002 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000419594 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000425114 | UniProtKB/TrEMBL | |
| ENST00000429547 | UniProtKB/TrEMBL | |
| ENST00000441993 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000458621 | UniProtKB/TrEMBL | |
| ENST00000519389 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 2.60.40.420 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000089472 | GTEx |
| HGNC ID | HGNC:4866 | ENTREZGENE |
| Human Proteome Map | HEPH | Human Proteome Map |
| InterPro | Cu-oxidase_2 | UniProtKB/Swiss-Prot |
| Cu-oxidase_3 | UniProtKB/Swiss-Prot | |
| Cu_oxidase_CS | UniProtKB/Swiss-Prot | |
| Cu_oxidase_Cu_BS | UniProtKB/Swiss-Prot | |
| Cupredoxin | UniProtKB/Swiss-Prot | |
| HEPH | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:9843 | UniProtKB/Swiss-Prot |
| NCBI Gene | 9843 | ENTREZGENE |
| OMIM | 300167 | OMIM |
| PANTHER | PTHR11709:SF221 | UniProtKB/Swiss-Prot |
| Pfam | Cu-oxidase_2 | UniProtKB/Swiss-Prot |
| Cu-oxidase_3 | UniProtKB/Swiss-Prot | |
| PharmGKB | PA29241 | PharmGKB |
| PROSITE | MULTICOPPER_OXIDASE1 | UniProtKB/Swiss-Prot |
| MULTICOPPER_OXIDASE2 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF49503 | UniProtKB/Swiss-Prot |
| UniGene | Hs.31720 | ENTREZGENE |
| UniProt | A0A0C4DG76 | ENTREZGENE, UniProtKB/TrEMBL |
| E7ES21 | ENTREZGENE, UniProtKB/TrEMBL | |
| F8WBZ8_HUMAN | UniProtKB/TrEMBL | |
| HEPH_HUMAN | UniProtKB/Swiss-Prot | |
| Q1HE23_HUMAN | UniProtKB/TrEMBL | |
| Q5JZ07_HUMAN | UniProtKB/TrEMBL | |
| Q5JZ08_HUMAN | UniProtKB/TrEMBL | |
| Q9BQS7 | ENTREZGENE | |
| UniProt Secondary | B1AJX8 | UniProtKB/Swiss-Prot |
| D3DVT7 | UniProtKB/Swiss-Prot | |
| E9PHN8 | UniProtKB/Swiss-Prot | |
| O75180 | UniProtKB/Swiss-Prot | |
| Q6UW45 | UniProtKB/Swiss-Prot | |
| Q9C058 | UniProtKB/Swiss-Prot |
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| More on HEPH | |
|
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: | 734284 |
| Created: | 2004-01-12 |
| 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.
