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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | malignant mesothelioma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:26818092 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | malignant mesothelioma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:26818092 | |
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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 |
PMID:9734811 | PMID:9988272 | PMID:10843811 | PMID:11891802 | PMID:11932491 | PMID:12168954 | PMID:12477932 | PMID:12949720 | PMID:12975309 | PMID:14702039 | PMID:15146197 | PMID:15342556 |
PMID:15489334 | PMID:16137899 | PMID:16274220 | PMID:17486601 | PMID:18022819 | PMID:19452451 | PMID:20019163 | PMID:20587610 | PMID:20932654 | PMID:21802403 | PMID:21873635 | PMID:22170436 |
PMID:22268729 | PMID:22503983 | PMID:22666411 | PMID:22961397 | PMID:23640881 | PMID:24988611 | PMID:30442766 | PMID:30647129 | PMID:31495888 | PMID:31973819 |
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 - African green monkey) |
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Heph (Heterocephalus glaber - naked mole-rat) |
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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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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2064 | 1637 | 324 | 8 | 250 | 10 | 1577 | 883 | 978 | 82 | 614 | 554 | 212 | 1204 | ||||
Low | 335 | 614 | 1261 | 490 | 703 | 327 | 2106 | 643 | 2703 | 277 | 735 | 840 | 165 | 1 | 992 | 977 | 3 | 2 |
Below cutoff | 14 | 709 | 119 | 111 | 781 | 110 | 631 | 639 | 23 | 26 | 28 | 45 | 3 | 607 | 2 |
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: |
RefSeq Acc Id: | NM_001282141 ⟹ NP_001269070 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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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: |
RefSeq Acc Id: | NM_138737 ⟹ NP_620074 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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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: |
RefSeq Acc Id: | XM_011531074 ⟹ XP_011529376 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011531075 ⟹ XP_011529377 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017029998 ⟹ XP_016885487 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
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: |
RefSeq Acc Id: | NP_001124332 ⟸ NM_001130860 |
- Peptide Label: | isoform c precursor |
- UniProtKB: | Q9BQS7 (UniProtKB/Swiss-Prot), A0A0C4DG76 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_055614 ⟸ NM_014799 |
- Peptide Label: | isoform b |
- UniProtKB: | Q9BQS7 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001269070 ⟸ NM_001282141 |
- Peptide Label: | isoform d precursor |
- UniProtKB: | Q9BQS7 (UniProtKB/Swiss-Prot), E7ES21 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011529375 ⟸ XM_011531073 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011529377 ⟸ XM_011531075 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_011529376 ⟸ XM_011531074 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_016885487 ⟸ XM_017029998 |
- Peptide Label: | isoform X5 |
- 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 |
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: |
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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: |
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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: |
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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: |
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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: |
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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: |
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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: |
|
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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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, 1, 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] ChrX:Xp22.33-q28 |
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 | Syndromic X-linked intellectual disability Lubs type [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 |
GRCh37/hg19 Xq12(chrX:65255929-65894285)x3 | copy number gain | not provided [RCV001259000] | ChrX:65255929..65894285 [GRCh37] ChrX:Xq12 |
likely benign |
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 | copy number gain | See cases [RCV001263024] | ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 | copy number gain | not provided [RCV001281359] | ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4866 | AgrOrtholog |
COSMIC | HEPH | COSMIC |
Ensembl Genes | ENSG00000089472 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
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, UniProtKB/TrEMBL |
GTEx | ENSG00000089472 | GTEx |
HGNC ID | HGNC:4866 | ENTREZGENE |
Human Proteome Map | HEPH | Human Proteome Map |
InterPro | Cu-oxidase_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cu-oxidase_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cu_oxidase_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cu_oxidase_Cu_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cupredoxin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
HEPH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:9843 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 9843 | ENTREZGENE |
OMIM | 300167 | OMIM |
PANTHER | PTHR11709:SF221 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | Cu-oxidase_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cu-oxidase_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA29241 | PharmGKB |
PROSITE | MULTICOPPER_OXIDASE1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MULTICOPPER_OXIDASE2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF49503 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
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 |