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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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lenz-Majewski hyperostotic dwarfism | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:24241535 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway Annotations
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Phenotype Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | OMIM Disease Annotation Pipeline |
| 3. | Pipeline to import KEGG annotations from KEGG into RGD |
| 4. | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 5. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 6. | RGD automated import pipeline for gene-chemical interactions |
| 7. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 1748687 7584026 10938271 11084049 12477932 15489334 18854154 19014349 19322201 19946888 20379614 21516116 23125841 23251661 24241535 24457600 26496610 26638075 26742492 26972000 27025967 27044099 27173435 28515276 28611215 29117863 29180619 29229926 29341480 29509190 29511261 30352685 30463901 |
Comparative Map Data| PTDSS1 (Homo sapiens - human) |
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| Ptdss1 (Mus musculus - house mouse) |
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| Ptdss1 (Rattus norvegicus - Norway rat) |
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| Ptdss1 (Chinchilla lanigera - long-tailed chinchilla) |
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| PTDSS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PTDSS1 (Canis lupus familiaris - dog) |
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| Ptdss1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PTDSS1 (Sus scrofa - pig) |
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| PTDSS1 (Chlorocebus sabaeus - green monkey) |
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| Ptdss1 (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| D8S1772 |
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| STS-D14694 |
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| RH123124 |
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| D8S1369E |
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| SHGC-146371 |
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| WI-20923 |
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| WI-9368 |
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| PTDSS1__6947 |
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| RH25262 |
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| D8S2131 |
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miRNA Target Status
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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RNA-SEQ Expression| leukocyte | 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 | epithelium of bronchus | cerebellum | substantia nigra | thyroid gland | lung | left cardiac atrium | heart left ventricle | 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 | bile duct | 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 | venous blood | frontal lobe | occipital cortex | left renal pelvis | right renal pelvis | distal gut | proximal gut | terminal ileum | |
| High | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 1 | 41 | 1 | 1 | 17 | 302 | 26 | 88 | 4 | 622 | 169 | 1 | 28 | 1 | 28 | 72 | 25 | 111 | 1 | 1 | 3 | 1 | 181 | 49 | 1 | 3 | 1 | 1 | 3 | 4 | 2 | 33 | 1 | 3 | 1 | 5 | 2 | 2 | 2 | 48 | 1 | 1 | 1 | 38 | 111 | 1 | 1 | 1 | 1 | 1 | 1 | 10 | 1 | 1 | 1 | 2 | 2 | 1 | 1 | 1 | 1 | 20 | 1 | 1 | 1 | 5 | 2 | 11 | 2 | 2 | 1 | 59 | 309 | 1 | 1 | 3 | 211 | 4 | 4 | 250 | 2 | 1 | 1 | 1 | 1 | 1 | 3 | 1 | 1 | 28 | 6 | 4 | 6 | 2 | 6 | 82 | 2 | 2 | 1 | 43 | 1 | 1 | 1 | 1 | 43 | 1 | 1 | 1 | 13 | 9 | 1 | 1 | 1 | 1 | 1 | 1 | 1 |
| Low | 1 | 1 | 3 | 4 | 1 | 1 | 2 | 2 | 1 | 22 | 15 | 1 | 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Below cutoff |
Nucleotide Sequences| RefSeq Transcripts | NG_034054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001290225 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_014754 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AK293036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK293513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AP003465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC002376 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC004192 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC004390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC004502 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM459031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| D14694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| HY087183 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KC877275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | ENST00000337004 ⟹ ENSP00000337331 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000517309 ⟹ ENSP00000430548 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000517557 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000517982 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000518776 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000522072 ⟹ ENSP00000430928 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001290225 ⟹ NP_001277154 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
TCTCGCGCCTGTCCTTCCCTCTGCTCCCAGCCTTTGCTGGGCGCCAGACCCGGCTTTGCCGTCChide sequence |
| RefSeq Acc Id: | NM_014754 ⟹ NP_055569 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
TCTCGCGCCTGTCCTTCCCTCTGCTCCCAGCCTTTGCTGGGCGCCAGACCCGGCTTTGCCGTCChide sequence |
Protein Sequences| Protein RefSeqs | NP_001277154 | (Get FASTA) | NCBI Sequence Viewer |
| NP_055569 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH02376 | (Get FASTA) | NCBI Sequence Viewer |
| AAH04192 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH04390 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH04502 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA03520 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF85725 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG56996 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW91753 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW91754 | (Get FASTA) | NCBI Sequence Viewer | |
| P48651 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_055569 ⟸ NM_014754 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | P48651 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTRDDSVhide sequence |
| RefSeq Acc Id: | NP_001277154 ⟸ NM_001290225 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | P48651 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFhide sequence |
| RefSeq Acc Id: | ENSP00000430548 ⟸ ENST00000517309 |
| RefSeq Acc Id: | ENSP00000337331 ⟸ ENST00000337004 |
| RefSeq Acc Id: | ENSP00000430928 ⟸ ENST00000522072 |
Promoters| RGD ID: | 7213829 | |||||||||
| Promoter ID: | EPDNEW_H12660 | |||||||||
| Type: | initiation region | |||||||||
| Name: | PTDSS1_1 | |||||||||
| Description: | phosphatidylserine synthase 1 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 6806964 | |||||||||
| Promoter ID: | HG_KWN:61755 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000287025, ENST00000337004, UC003YHU.1, UC010MBD.1 | |||||||||
| Position: |
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| RGD ID: | 6853348 | |||||||||
| Promoter ID: | EP74499 | |||||||||
| Type: | initiation region | |||||||||
| Name: | HS_PTDSS1 | |||||||||
| Description: | Phosphatidylserine synthase 1. | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Mammalian gene collection (MGC) full-length cDNA cloning | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | Seizures [RCV000051206]|See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] | Chr8:95606052..145054775 [GRCh38] Chr8:96618280..146280161 [GRCh37] Chr8:96687456..146250965 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053602]|See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 | copy number loss | Global developmental delay [RCV000054278]|See cases [RCV000054278] | Chr8:92755532..97792132 [GRCh38] Chr8:93767760..98804360 [GRCh37] Chr8:93836936..98873536 [NCBI36] Chr8:8q22.1 |
pathogenic |
| GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054279]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054279]|See cases [RCV000054279] | Chr8:96065893..97276981 [GRCh38] Chr8:97078121..98289209 [GRCh37] Chr8:97147297..98358385 [NCBI36] Chr8:8q22.1 |
pathogenic |
| NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV000083280] | Chr8:96309607 [GRCh38] Chr8:97321835 [GRCh37] Chr8:8q22.1 |
pathogenic |
| NM_014754.3(PTDSS1):c.805C>T (p.Pro269Ser) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV000083281] | Chr8:96304092 [GRCh38] Chr8:97316320 [GRCh37] Chr8:8q22.1 |
pathogenic |
| NM_014754.3(PTDSS1):c.794T>C (p.Leu265Pro) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV000083282] | Chr8:96304081 [GRCh38] Chr8:97316309 [GRCh37] Chr8:8q22.1 |
pathogenic |
| GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 | copy number gain | not provided [RCV000848192] | Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3 |
pathogenic |
| GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 | copy number gain | See cases [RCV000134353] | Chr8:94682154..145068656 [GRCh38] Chr8:95694382..146294042 [GRCh37] Chr8:95763558..146264846 [NCBI36] Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 | copy number gain | See cases [RCV000135621] | Chr8:86300584..137022587 [GRCh38] Chr8:87312813..138034830 [GRCh37] Chr8:87381929..138104012 [NCBI36] Chr8:8q21.3-24.23 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 | copy number gain | See cases [RCV000138551] | Chr8:87931152..145068712 [GRCh38] Chr8:88943380..146294098 [GRCh37] Chr8:89012496..146264902 [NCBI36] Chr8:8q21.3-24.3 |
pathogenic |
| GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 | copy number gain | See cases [RCV000139036] | Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
| GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 | copy number gain | See cases [RCV000139539] | Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 | copy number gain | See cases [RCV000142597] | Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 | copy number gain | See cases [RCV000143659] | Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3 |
pathogenic |
| NM_014754.3(PTDSS1):c.911C>A (p.Thr304Asn) | single nucleotide variant | not specified [RCV000413772] | Chr8:96306460 [GRCh38] Chr8:97318688 [GRCh37] Chr8:8q22.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| NM_014754.3(PTDSS1):c.421A>G (p.Thr141Ala) | single nucleotide variant | not provided [RCV000443001] | Chr8:96287126 [GRCh38] Chr8:97299354 [GRCh37] Chr8:8q22.1 |
likely pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 | copy number gain | See cases [RCV000511761] | Chr8:93047482..141355635 [GRCh37] Chr8:8q21.3-24.3 |
pathogenic |
| NM_014754.3(PTDSS1):c.284G>A (p.Arg95Gln) | single nucleotide variant | not provided [RCV000493041] | Chr8:96284121 [GRCh38] Chr8:97296349 [GRCh37] Chr8:8q22.1 |
likely pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 | copy number gain | See cases [RCV000511002] | Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
| GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 | copy number gain | See cases [RCV000510854] | Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3 |
pathogenic |
| GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
| GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 | copy number gain | not provided [RCV000683045] | Chr8:86841154..116518125 [GRCh37] Chr8:8q21.2-23.3 |
pathogenic |
| GRCh37/hg19 8q22.1(chr8:96468763-98522743)x1 | copy number loss | not provided [RCV000683017] | Chr8:96468763..98522743 [GRCh37] Chr8:8q22.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| NM_014754.3(PTDSS1):c.591G>A (p.Glu197=) | single nucleotide variant | not provided [RCV000917685] | Chr8:96295247 [GRCh38] Chr8:97307475 [GRCh37] Chr8:8q22.1 |
likely benign |
| NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV000984910] | Chr8:96306481 [GRCh38] Chr8:97318709 [GRCh37] Chr8:8q22.1 |
uncertain significance |
| NM_014754.3(PTDSS1):c.417C>T (p.Tyr139=) | single nucleotide variant | not provided [RCV000885261] | Chr8:96287122 [GRCh38] Chr8:97299350 [GRCh37] Chr8:8q22.1 |
benign |
| NM_014754.3(PTDSS1):c.1239A>G (p.Glu413=) | single nucleotide variant | not provided [RCV000928152] | Chr8:96330278 [GRCh38] Chr8:97342506 [GRCh37] Chr8:8q22.1 |
likely benign |
| NM_014754.3(PTDSS1):c.930C>T (p.Ile310=) | single nucleotide variant | not provided [RCV000906301] | Chr8:96306479 [GRCh38] Chr8:97318707 [GRCh37] Chr8:8q22.1 |
likely benign |
| NM_014754.3(PTDSS1):c.214G>A (p.Gly72Ser) | single nucleotide variant | not provided [RCV000905296] | Chr8:96273333 [GRCh38] Chr8:97285561 [GRCh37] Chr8:8q22.1 |
likely benign |
| GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3 | copy number gain | Leri pleonosteosis [RCV000856633] | Chr8:97154645..98155535 [GRCh37] Chr8:8q22.1 |
pathogenic |
| NM_014754.3(PTDSS1):c.1137C>G (p.Thr379=) | single nucleotide variant | not provided [RCV000968628] | Chr8:96320309 [GRCh38] Chr8:97332537 [GRCh37] Chr8:8q22.1 |
benign |
| NM_014754.3(PTDSS1):c.1280A>G (p.Glu427Gly) | single nucleotide variant | not provided [RCV000971765] | Chr8:96331063 [GRCh38] Chr8:97343291 [GRCh37] Chr8:8q22.1 |
benign |
| GRCh37/hg19 8q22.1(chr8:97320634-97354540)x1 | copy number loss | not provided [RCV000849960] | Chr8:97320634..97354540 [GRCh37] Chr8:8q22.1 |
uncertain significance |
| NM_014754.3(PTDSS1):c.1346A>G (p.Asn449Ser) | single nucleotide variant | not provided [RCV000999059] | Chr8:96333490 [GRCh38] Chr8:97345718 [GRCh37] Chr8:8q22.1 |
uncertain significance |
| NM_014754.3(PTDSS1):c.953C>T (p.Pro318Leu) | single nucleotide variant | Lenz-Majewski hyperostosis syndrome [RCV000988099] | Chr8:96306502 [GRCh38] Chr8:97318730 [GRCh37] Chr8:8q22.1 |
uncertain significance |
| NM_014754.3(PTDSS1):c.826C>A (p.Arg276=) | single nucleotide variant | not provided [RCV000898018] | Chr8:96304113 [GRCh38] Chr8:97316341 [GRCh37] Chr8:8q22.1 |
benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
| NM_014754.3(PTDSS1):c.1198T>C (p.Tyr400His) | single nucleotide variant | not provided [RCV000938578] | Chr8:96330237 [GRCh38] Chr8:97342465 [GRCh37] Chr8:8q22.1 |
likely benign |
| NM_014754.3(PTDSS1):c.1268C>A (p.Thr423Asn) | single nucleotide variant | not provided [RCV000953761] | Chr8:96331051 [GRCh38] Chr8:97343279 [GRCh37] Chr8:8q22.1 |
benign |
| NM_014754.3(PTDSS1):c.1174-8T>C | single nucleotide variant | not provided [RCV000908056] | Chr8:96330205 [GRCh38] Chr8:97342433 [GRCh37] Chr8:8q22.1 |
benign |
| NM_014754.3(PTDSS1):c.369C>G (p.Phe123Leu) | single nucleotide variant | not provided [RCV000906739] | Chr8:96287074 [GRCh38] Chr8:97299302 [GRCh37] Chr8:8q22.1 |
benign |
| NM_014754.3(PTDSS1):c.1047C>T (p.Arg349=) | single nucleotide variant | not provided [RCV000880731] | Chr8:96309596 [GRCh38] Chr8:97321824 [GRCh37] Chr8:8q22.1 |
likely benign |
| NM_014754.3(PTDSS1):c.270T>C (p.Asn90=) | single nucleotide variant | not provided [RCV000956650] | Chr8:96273389 [GRCh38] Chr8:97285617 [GRCh37] Chr8:8q22.1 |
benign |
| NM_014754.3(PTDSS1):c.1029C>T (p.Thr343=) | single nucleotide variant | not provided [RCV000911205] | Chr8:96309578 [GRCh38] Chr8:97321806 [GRCh37] Chr8:8q22.1 |
likely benign |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:9587 | AgrOrtholog |
| COSMIC | PTDSS1 | COSMIC |
| Ensembl Genes | ENSG00000156471 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000337331 | UniProtKB/TrEMBL |
| ENSP00000430548 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000430928 | UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000337004 | UniProtKB/TrEMBL |
| ENST00000517309 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000522072 | UniProtKB/Swiss-Prot | |
| GTEx | ENSG00000156471 | GTEx |
| HGNC ID | HGNC:9587 | ENTREZGENE |
| Human Proteome Map | PTDSS1 | Human Proteome Map |
| InterPro | PSS | UniProtKB/Swiss-Prot |
| KEGG Report | hsa:9791 | UniProtKB/Swiss-Prot |
| NCBI Gene | 9791 | ENTREZGENE |
| OMIM | 151050 | OMIM |
| 612792 | OMIM | |
| Pfam | PSS | UniProtKB/Swiss-Prot |
| PharmGKB | PA33939 | PharmGKB |
| UniGene | Hs.292579 | ENTREZGENE |
| UniProt | J3KNR6_HUMAN | UniProtKB/TrEMBL |
| P48651 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Q9BSY0_HUMAN | UniProtKB/TrEMBL | |
| UniProt Secondary | B4DE85 | UniProtKB/Swiss-Prot |
| E5RFC5 | UniProtKB/Swiss-Prot | |
| Q9BUQ5 | UniProtKB/Swiss-Prot |
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| More on PTDSS1 | |
|
Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
|
HGNC Report |
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NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1319019 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-12-25 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
