PTDSS1 (phosphatidylserine synthase 1) - Rat Genome Database
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Gene: PTDSS1 (phosphatidylserine synthase 1) Homo sapiens
Analyze
Symbol: PTDSS1
Name: phosphatidylserine synthase 1
RGD ID: 1319019
HGNC Page HGNC
Description: Exhibits L-serine-phosphatidylethanolamine phosphatidyltransferase activity. Involved in phosphatidylserine biosynthetic process. Localizes to membrane. Implicated in Lenz-Majewski hyperostotic dwarfism.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: KIAA0024; LMHD; PSS-1; PSS1; PSSA; ptdSer synthase 1; serine-exchange enzyme I
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl896,261,902 - 96,336,995 (+)EnsemblGRCh38hg38GRCh38
GRCh38896,261,902 - 96,336,995 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37897,274,130 - 97,349,223 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37897,274,167 - 97,346,774 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36897,343,343 - 97,415,950 (+)NCBINCBI36hg18NCBI36
Build 34897,343,342 - 97,415,950NCBI
Celera893,460,160 - 93,532,736 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef892,479,689 - 92,552,263 (+)NCBIHuRef
CHM1_1897,314,354 - 97,387,030 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cortical bone morphology  (IAGP)
Abnormal nasolacrimal system morphology  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the metacarpal bones  (IAGP)
Abnormality of the metaphysis  (IAGP)
Absent septum pellucidum  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anteriorly placed anus  (IAGP)
Aplasia/Hypoplasia of the middle phalanges of the hand  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Aplastic clavicle  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Brachydactyly  (IAGP)
Broad clavicles  (IAGP)
Broad forehead  (IAGP)
Broad ribs  (IAGP)
Choanal atresia  (IAGP)
Choanal stenosis  (IAGP)
Chordee  (IAGP)
Cryptorchidism  (IAGP)
Cutis laxa  (IAGP)
Cutis marmorata  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed skeletal maturation  (IAGP)
Diaphyseal thickening  (IAGP)
Elbow ankylosis  (IAGP)
Elbow flexion contracture  (IAGP)
Epispadias  (IAGP)
External genital hypoplasia  (IAGP)
Facial hyperostosis  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Femoral hernia  (IAGP)
Finger syndactyly  (IAGP)
Flared metaphysis  (IAGP)
Frontal bossing  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
High, narrow palate  (IAGP)
Humeroradial synostosis  (IAGP)
Hydrocephalus  (IAGP)
Hyperconvex fingernails  (IAGP)
Hyperextensibility of the finger joints  (IAGP)
Hypertelorism  (IAGP)
Hypogonadism  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hyperflexibility  (IAGP)
Knee flexion contracture  (IAGP)
Kyphosis  (IAGP)
Lacrimal duct stenosis  (IAGP)
Large fontanelles  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Microglossia  (IAGP)
Micrognathia  (IAGP)
Osteopetrosis  (IAGP)
Prematurely aged appearance  (IAGP)
Progressive sclerosis of skull base  (IAGP)
Prominent forehead  (IAGP)
Prominent scalp veins  (IAGP)
Proximal symphalangism of hands  (IAGP)
Redundant skin  (IAGP)
Relative macrocephaly  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe short stature  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Sparse hair  (IAGP)
Specific learning disability  (IAGP)
Sporadic  (IAGP)
Submucous cleft hard palate  (IAGP)
Symphalangism affecting the phalanges of the hand  (IAGP)
Syndactyly  (IAGP)
Thick vermilion border  (IAGP)
Thickened calvaria  (IAGP)
Thin skin  (IAGP)
Wide mouth  (IAGP)
References

Additional References at PubMed
PMID:1748687   PMID:7584026   PMID:10938271   PMID:11084049   PMID:12477932   PMID:15489334   PMID:18854154   PMID:19014349   PMID:19322201   PMID:19946888   PMID:20379614   PMID:21516116  
PMID:23125841   PMID:23251661   PMID:24241535   PMID:24457600   PMID:26496610   PMID:26638075   PMID:26742492   PMID:26972000   PMID:27025967   PMID:27044099   PMID:27173435   PMID:28298427  
PMID:28380382   PMID:28515276   PMID:28611215   PMID:28692057   PMID:29117863   PMID:29180619   PMID:29229926   PMID:29341480   PMID:29395067   PMID:29509190   PMID:29511261   PMID:29615496  
PMID:30352685   PMID:30463901   PMID:30940648   PMID:31231513   PMID:31365120   PMID:31527615   PMID:31685992   PMID:31980649   PMID:32694731   PMID:32788342   PMID:33005030  


Genomics

Comparative Map Data
PTDSS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl896,261,902 - 96,336,995 (+)EnsemblGRCh38hg38GRCh38
GRCh38896,261,902 - 96,336,995 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37897,274,130 - 97,349,223 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37897,274,167 - 97,346,774 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36897,343,343 - 97,415,950 (+)NCBINCBI36hg18NCBI36
Build 34897,343,342 - 97,415,950NCBI
Celera893,460,160 - 93,532,736 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef892,479,689 - 92,552,263 (+)NCBIHuRef
CHM1_1897,314,354 - 97,387,030 (+)NCBICHM1_1
Ptdss1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391367,080,894 - 67,146,465 (+)NCBIGRCm39mm39
GRCm381366,932,830 - 66,998,401 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1366,932,830 - 66,998,401 (+)EnsemblGRCm38mm10GRCm38
MGSCv371367,033,766 - 67,099,337 (+)NCBIGRCm37mm9NCBIm37
MGSCv361364,423,650 - 64,489,143 (+)NCBImm8
MGSCv361367,368,579 - 67,433,261 (+)NCBImm8
Celera1370,308,773 - 70,371,947 (-)NCBICelera
Cytogenetic Map13B3NCBI
cM Map1334.54NCBI
Ptdss1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2763,845,017 - 63,906,791 (+)NCBI
Rnor_6.0 Ensembl771,293,388 - 71,356,153 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0771,294,140 - 71,356,153 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0771,466,006 - 71,526,225 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4767,988,402 - 68,062,192 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1768,009,131 - 68,082,922 (+)NCBI
Celera760,977,457 - 61,038,477 (+)NCBICelera
Cytogenetic Map7q22NCBI
Ptdss1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541712,268,107 - 12,327,127 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541712,268,908 - 12,327,127 (+)NCBIChiLan1.0ChiLan1.0
PTDSS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1895,084,103 - 95,156,104 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl895,084,103 - 95,156,104 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0892,886,918 - 92,959,611 (+)NCBIMhudiblu_PPA_v0panPan3
PTDSS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2940,768,237 - 40,925,800 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12940,747,840 - 40,819,162 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ptdss1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647046,209,700 - 46,275,305 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTDSS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl440,297,885 - 40,376,076 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1440,297,876 - 40,376,099 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2443,478,296 - 43,524,101 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PTDSS1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1891,226,250 - 91,298,387 (+)NCBI
ChlSab1.1 Ensembl891,226,796 - 91,299,717 (+)Ensembl
Ptdss1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247633,587,863 - 3,649,921 (+)NCBI

Position Markers
D8S1772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,289,114 - 97,289,260UniSTSGRCh37
Build 36897,358,290 - 97,358,436RGDNCBI36
Celera893,475,107 - 93,475,253RGD
Cytogenetic Map8q22UniSTS
HuRef892,494,636 - 92,494,786UniSTS
Marshfield Genetic Map8107.97RGD
Marshfield Genetic Map8107.97UniSTS
Genethon Genetic Map8106.4UniSTS
deCODE Assembly Map8101.77UniSTS
Whitehead-YAC Contig Map8 UniSTS
STS-D14694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,346,421 - 97,346,684UniSTSGRCh37
Build 36897,415,597 - 97,415,860RGDNCBI36
Celera893,532,383 - 93,532,646RGD
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map8q22UniSTS
HuRef892,551,910 - 92,552,173UniSTS
GeneMap99-GB4 RH Map8442.14UniSTS
NCBI RH Map8991.9UniSTS
RH123124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,297,854 - 97,298,165UniSTSGRCh37
Build 36897,367,030 - 97,367,341RGDNCBI36
Celera893,483,843 - 93,484,154RGD
Cytogenetic Map8q22UniSTS
HuRef892,503,376 - 92,503,687UniSTS
TNG Radiation Hybrid Map846700.0UniSTS
TNG Radiation Hybrid Map846708.0UniSTS
D8S1369E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,346,601 - 97,346,680UniSTSGRCh37
Build 36897,415,777 - 97,415,856RGDNCBI36
Celera893,532,563 - 93,532,642RGD
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map8q22UniSTS
HuRef892,552,090 - 92,552,169UniSTS
SHGC-146371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,317,039 - 97,317,344UniSTSGRCh37
Build 36897,386,215 - 97,386,520RGDNCBI36
Celera893,503,030 - 93,503,335RGD
Cytogenetic Map8q22UniSTS
HuRef892,522,566 - 92,522,871UniSTS
TNG Radiation Hybrid Map846712.0UniSTS
WI-20923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,346,460 - 97,346,744UniSTSGRCh37
Build 36897,415,636 - 97,415,920RGDNCBI36
Celera893,532,422 - 93,532,706RGD
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map8q22UniSTS
HuRef892,551,949 - 92,552,233UniSTS
GeneMap99-GB4 RH Map8442.14UniSTS
Whitehead-RH Map8581.2UniSTS
NCBI RH Map81125.9UniSTS
WI-9368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,346,379 - 97,346,478UniSTSGRCh37
Build 36897,415,555 - 97,415,654RGDNCBI36
Celera893,532,341 - 93,532,440RGD
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map8q22UniSTS
HuRef892,551,868 - 92,551,967UniSTS
GeneMap99-GB4 RH Map8440.32UniSTS
Whitehead-RH Map8580.2UniSTS
PTDSS1__6947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,346,009 - 97,346,847UniSTSGRCh37
Build 36897,415,185 - 97,416,023RGDNCBI36
Celera893,531,971 - 93,532,809RGD
HuRef892,551,498 - 92,552,336UniSTS
RH25262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,346,451 - 97,346,629UniSTSGRCh37
Build 36897,415,627 - 97,415,805RGDNCBI36
Celera893,532,413 - 93,532,591RGD
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map8q22UniSTS
HuRef892,551,940 - 92,552,118UniSTS
GeneMap99-GB4 RH Map8440.32UniSTS
D8S2131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37897,346,578 - 97,346,727UniSTSGRCh37
Build 36897,415,754 - 97,415,903RGDNCBI36
Celera893,532,540 - 93,532,689RGD
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map8q22UniSTS
HuRef892,552,067 - 92,552,216UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3312
Count of miRNA genes:1065
Interacting mature miRNAs:1309
Transcripts:ENST00000337004, ENST00000455950, ENST00000517309, ENST00000517557, ENST00000517982, ENST00000518776, ENST00000522072
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 2303 2710 1561 518 1798 362 4081 1753 3011 356 1409 1610 172 1 1193 2513 6 2
Low 136 281 165 106 153 103 276 444 723 63 51 3 3 11 275
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000337004   ⟹   ENSP00000337331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,261,913 - 96,334,552 (+)Ensembl
RefSeq Acc Id: ENST00000517309   ⟹   ENSP00000430548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,261,902 - 96,336,995 (+)Ensembl
RefSeq Acc Id: ENST00000517557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,261,967 - 96,287,388 (+)Ensembl
RefSeq Acc Id: ENST00000517982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,330,317 - 96,333,892 (+)Ensembl
RefSeq Acc Id: ENST00000518776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,283,597 - 96,304,157 (+)Ensembl
RefSeq Acc Id: ENST00000522072   ⟹   ENSP00000430928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl896,295,192 - 96,333,982 (+)Ensembl
RefSeq Acc Id: NM_001290225   ⟹   NP_001277154
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,261,902 - 96,336,995 (+)NCBI
CHM1_1897,314,354 - 97,387,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014754   ⟹   NP_055569
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38896,261,902 - 96,336,995 (+)NCBI
GRCh37897,274,167 - 97,346,774 (+)RGD
Build 36897,343,343 - 97,415,950 (+)NCBI Archive
Celera893,460,160 - 93,532,736 (+)RGD
HuRef892,479,689 - 92,552,263 (+)RGD
CHM1_1897,314,354 - 97,387,030 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055569   ⟸   NM_014754
- Peptide Label: isoform 1
- UniProtKB: P48651 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001277154   ⟸   NM_001290225
- Peptide Label: isoform 2
- UniProtKB: P48651 (UniProtKB/Swiss-Prot)
- 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:
Human AssemblyChrPosition (strand)Source
GRCh38896,261,931 - 96,261,991EPDNEW
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:
Human AssemblyChrPosition (strand)Source
Build 36897,342,301 - 97,344,067 (+)MPROMDB
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:
Human AssemblyChrPosition (strand)Source
Build 36897,343,340 - 97,343,400EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain 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 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 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 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 Lenz-Majewski hyperostosis syndrome [RCV001253177]|not provided [RCV000493041] Chr8:96284121 [GRCh38]
Chr8:97296349 [GRCh37]
Chr8:8q22.1
likely pathogenic|uncertain significance
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
GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3 copy number gain not provided [RCV001006122] Chr8:96646399..98973327 [GRCh37]
Chr8:8q22.1
likely 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.409C>T (p.Leu137Phe) single nucleotide variant not provided [RCV001089765] Chr8:96287114 [GRCh38]
Chr8:97299342 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_014754.3(PTDSS1):c.786_788dup (p.Ala263dup) duplication not provided [RCV001217556] Chr8:96304072..96304073 [GRCh38]
Chr8:97316300..97316301 [GRCh37]
Chr8:8q22.1
uncertain significance
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
NM_014754.3(PTDSS1):c.247A>C (p.Ile83Leu) single nucleotide variant Lenz-Majewski hyperostosis syndrome [RCV001196358] Chr8:96273366 [GRCh38]
Chr8:97285594 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_014754.3(PTDSS1):c.334T>G (p.Phe112Val) single nucleotide variant Microcephaly [RCV001252718] Chr8:96287039 [GRCh38]
Chr8:97299267 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3 copy number gain not provided [RCV001259019] Chr8:95803280..97802022 [GRCh37]
Chr8:8q22.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9587 AgrOrtholog
COSMIC PTDSS1 COSMIC
Ensembl Genes ENSG00000156471 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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, UniProtKB/TrEMBL
KEGG Report hsa:9791 UniProtKB/Swiss-Prot
NCBI Gene 9791 ENTREZGENE
OMIM 151050 OMIM
  612792 OMIM
Pfam PSS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33939 PharmGKB
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