PORCN (porcupine O-acyltransferase) - Rat Genome Database

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Gene: PORCN (porcupine O-acyltransferase) Homo sapiens
Analyze
Symbol: PORCN
Name: porcupine O-acyltransferase
RGD ID: 1603972
HGNC Page HGNC
Description: Predicted to have Wnt-protein binding activity and palmitoleoyltransferase activity. Predicted to be involved in several processes, including Wnt protein secretion; canonical Wnt signaling pathway; and protein lipidation. Predicted to localize to endoplasmic reticulum and membrane. Implicated in focal dermal hypoplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2410004O13Rik; dermal hypoplasia, focal; DHOF; FODH; MG61; MGC29687; por; PORC; porcupine homolog; porcupine homolog (Drosophila); PPN; probable protein-cysteine N-palmitoyltransferase porcupine; protein-cysteine N-palmitoyltransferase porcupine; protein-serine O-palmitoleoyltransferase porcupine
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 EnsemblX48,508,962 - 48,520,814 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,508,992 - 48,520,814 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,367,380 - 48,379,202 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,252,315 - 48,264,146 (+)NCBINCBI36hg18NCBI36
CeleraX53,286,529 - 53,298,360 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,031,046 - 46,042,328 (+)NCBIHuRef
CHM1_1X48,398,612 - 48,410,463 (+)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

Molecular Function

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

Human Phenotype
Abdominal pain  (IAGP)
Abnormal adipose tissue morphology  (IAGP)
Abnormal palmar dermatoglyphics  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of dental morphology  (IAGP)
Abnormality of epiphysis morphology  (IAGP)
Abnormality of hair texture  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the larynx  (IAGP)
Abnormality of the mediastinum  (IAGP)
Abnormality of the middle ear  (IAGP)
Abnormality of the nail  (IAGP)
Abnormality of the pinna  (IAGP)
Abnormality of the pulmonary vasculature  (IAGP)
Absent fingernail  (IAGP)
Absent toenail  (IAGP)
Acute hepatic failure  (IAGP)
Agenesis of corpus callosum  (IAGP)
Alopecia  (IAGP)
Aniridia  (IAGP)
Anophthalmia  (IAGP)
Anteriorly placed anus  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Arnold-Chiari malformation  (IAGP)
Bifid ureter  (IAGP)
Brachydactyly  (IAGP)
Brittle hair  (IAGP)
Broad nasal tip  (IAGP)
Camptodactyly of finger  (IAGP)
Chorioretinal coloboma  (IAGP)
Cleft ala nasi  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clitoral hypoplasia  (IAGP)
Coarse metaphyseal trabecularization  (IAGP)
Cognitive impairment  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital hip dislocation  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Delayed eruption of teeth  (IAGP)
Dental malocclusion  (IAGP)
Dermal atrophy  (IAGP)
Diastasis recti  (IAGP)
Duodenal atresia  (IAGP)
Ectopia lentis  (IAGP)
Erythema  (IAGP)
Facial asymmetry  (IAGP)
Finger syndactyly  (IAGP)
Foot oligodactyly  (IAGP)
Foot polydactyly  (IAGP)
Gastroesophageal reflux  (IAGP)
Giant cell tumor of bone  (IAGP)
Global developmental delay  (IAGP)
Hand oligodactyly  (IAGP)
Hand polydactyly  (IAGP)
Hearing impairment  (IAGP)
Hiatus hernia  (IAGP)
Horseshoe kidney  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of dental enamel  (IAGP)
Hypoplasia of the iris  (IAGP)
Hypoplastic nipples  (IAGP)
Hypoplastic pelvis  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Iris coloboma  (IAGP)
Joint laxity  (IAGP)
Labial hypoplasia  (IAGP)
Linear hyperpigmentation  (IAGP)
Low-set ears  (IAGP)
Lower limb asymmetry  (IAGP)
Macule  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Midclavicular aplasia  (IAGP)
Midclavicular hypoplasia  (IAGP)
Mixed hearing impairment  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Myelomeningocele  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Narrow nasal bridge  (IAGP)
Nystagmus  (IAGP)
Oligodontia  (IAGP)
Omphalocele  (IAGP)
Open bite  (IAGP)
Optic atrophy  (IAGP)
Osteopathia striata  (IAGP)
Papilloma  (IAGP)
Patchy alopecia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pointed chin  (IAGP)
Postaxial hand polydactyly  (IAGP)
Reduced number of teeth  (IAGP)
Reduced visual acuity  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Reticular hyperpigmentation  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Short clavicles  (IAGP)
Short finger  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short phalanx of finger  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Sparse hair  (IAGP)
Spina bifida  (IAGP)
Spina bifida occulta  (IAGP)
Split foot  (IAGP)
Split hand  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Strabismus  (IAGP)
Subcutaneous nodule  (IAGP)
Supernumerary nipple  (IAGP)
Telangiectasia  (IAGP)
Telangiectasia of the skin  (IAGP)
Thin skin  (IAGP)
Toe syndactyly  (IAGP)
Umbilical hernia  (IAGP)
Upper limb asymmetry  (IAGP)
Ventricular septal defect  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:10866835   PMID:12034504   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15489334   PMID:17546030   PMID:17546031   PMID:18193088   PMID:18325042   PMID:19277062   PMID:19309688  
PMID:19586929   PMID:19681149   PMID:19863546   PMID:20198348   PMID:20301533   PMID:20301552   PMID:20301712   PMID:20854095   PMID:21472892   PMID:21873635   PMID:22509316   PMID:22735390  
PMID:22888000   PMID:22923569   PMID:23131169   PMID:23188502   PMID:23399492   PMID:23547709   PMID:23696273   PMID:24647048   PMID:24698628   PMID:24798332   PMID:25026905   PMID:25451226  
PMID:25849925   PMID:26257057   PMID:28293688   PMID:28611215   PMID:28655768   PMID:30420431   PMID:31089983   PMID:31391551   PMID:32104684   PMID:32296183   PMID:33557041  


Genomics

Comparative Map Data
PORCN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,508,962 - 48,520,814 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,508,992 - 48,520,814 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,367,380 - 48,379,202 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,252,315 - 48,264,146 (+)NCBINCBI36hg18NCBI36
CeleraX53,286,529 - 53,298,360 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,031,046 - 46,042,328 (+)NCBIHuRef
CHM1_1X48,398,612 - 48,410,463 (+)NCBICHM1_1
Porcn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X8,060,085 - 8,072,794 (-)NCBIGRCm39mm39
GRCm39 EnsemblX8,060,087 - 8,072,764 (-)Ensembl
GRCm38X8,193,846 - 8,206,548 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX8,193,848 - 8,206,525 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X7,770,976 - 7,783,651 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X7,350,809 - 7,363,466 (-)NCBImm8
CeleraX3,263,557 - 3,276,203 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.7NCBI
Porcn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,285,864 - 14,298,481 (+)NCBI
Rnor_6.0 EnsemblX15,035,569 - 15,048,440 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,035,569 - 15,048,440 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X15,819,241 - 15,831,751 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,317,388 - 26,330,177 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX14,371,304 - 14,383,919 (+)NCBICelera
Cytogenetic MapXq12NCBI
Porcn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495554375,875 - 91,975 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495554375,870 - 91,575 (+)NCBIChiLan1.0ChiLan1.0
PORCN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X48,670,973 - 48,683,318 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX48,671,829 - 48,682,980 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X40,807,151 - 40,819,069 (+)NCBIMhudiblu_PPA_v0panPan3
PORCN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X41,763,126 - 41,773,892 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX41,762,692 - 41,779,476 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,139,338 - 16,150,113 (+)NCBI
ROS_Cfam_1.0X41,899,285 - 41,910,059 (+)NCBI
UMICH_Zoey_3.1X41,886,207 - 41,896,981 (+)NCBI
UNSW_CanFamBas_1.0X41,874,498 - 41,885,274 (+)NCBI
UU_Cfam_GSD_1.0X41,968,061 - 41,978,839 (+)NCBI
Porcn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,254,739 - 34,267,952 (+)NCBI
SpeTri2.0NW_004936721495,132 - 508,341 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PORCN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,653,788 - 42,669,526 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,653,696 - 42,669,526 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,628,531 - 47,644,354 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PORCN
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X45,639,836 - 45,652,301 (+)NCBI
ChlSab1.1 EnsemblX45,640,125 - 45,651,974 (+)Ensembl
Porcn
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893327,801 - 339,879 (+)NCBI

Position Markers
DXS7465E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,378,935 - 48,379,045UniSTSGRCh37
Build 36X48,263,879 - 48,263,989RGDNCBI36
CeleraX53,286,686 - 53,286,796RGD
Cytogenetic MapXp11.23-p11.22UniSTS
Cytogenetic MapXp11.23UniSTS
HuRefX46,042,061 - 46,042,171UniSTS
DXS9869E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,378,870 - 48,379,122UniSTSGRCh37
Build 36X48,263,814 - 48,264,066RGDNCBI36
Cytogenetic MapXp11.23UniSTS
HuRefX46,041,996 - 46,042,248UniSTS
RH17606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,378,765 - 48,378,920UniSTSGRCh37
Build 36X48,263,709 - 48,263,864RGDNCBI36
CeleraX53,286,811 - 53,286,966RGD
Cytogenetic MapXp11.23-p11.22UniSTS
Cytogenetic MapXp11.23UniSTS
HuRefX46,041,891 - 46,042,046UniSTS
GeneMap99-GB4 RH MapX142.73UniSTS
NCBI RH MapX198.6UniSTS
PORCN_3674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,378,838 - 48,379,324UniSTSGRCh37
Build 36X48,263,782 - 48,264,268RGDNCBI36
CeleraX53,286,407 - 53,286,893RGD
HuRefX46,041,964 - 46,042,450UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5510
Count of miRNA genes:1065
Interacting mature miRNAs:1310
Transcripts:ENST00000326194, ENST00000355092, ENST00000355961, ENST00000359882, ENST00000361988, ENST00000367574, ENST00000459953, ENST00000470275, ENST00000472520, ENST00000485288, ENST00000486272, ENST00000489940, ENST00000491243, ENST00000528612, ENST00000537758
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid
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 1
Medium 1601 1525 1219 134 903 23 2989 949 2777 122 1206 1366 126 677 1738
Low 838 1461 499 482 1038 434 1368 1246 957 297 252 246 49 1 527 1050 5 2
Below cutoff 5 8 8 8 8 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF196972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF317058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF317059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF317060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF317061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL538245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL579208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM543485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM545893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN310467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY002842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L08239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000326194   ⟹   ENSP00000322304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,509,778 - 48,520,802 (+)Ensembl
RefSeq Acc Id: ENST00000355961   ⟹   ENSP00000348233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,509,002 - 48,520,814 (+)Ensembl
RefSeq Acc Id: ENST00000359882   ⟹   ENSP00000352946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,508,962 - 48,520,806 (+)Ensembl
RefSeq Acc Id: ENST00000361988   ⟹   ENSP00000354978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,509,040 - 48,520,694 (+)Ensembl
RefSeq Acc Id: ENST00000367574   ⟹   ENSP00000356546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,509,821 - 48,520,476 (+)Ensembl
RefSeq Acc Id: ENST00000459953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,515,442 - 48,516,229 (+)Ensembl
RefSeq Acc Id: ENST00000470275   ⟹   ENSP00000418644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,509,676 - 48,512,497 (+)Ensembl
RefSeq Acc Id: ENST00000472520   ⟹   ENSP00000419858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,508,992 - 48,520,808 (+)Ensembl
RefSeq Acc Id: ENST00000485288   ⟹   ENSP00000420445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,508,994 - 48,520,806 (+)Ensembl
RefSeq Acc Id: ENST00000486272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,508,966 - 48,511,375 (+)Ensembl
RefSeq Acc Id: ENST00000489940   ⟹   ENSP00000419212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,509,030 - 48,511,451 (+)Ensembl
RefSeq Acc Id: ENST00000491243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,509,031 - 48,520,806 (+)Ensembl
RefSeq Acc Id: ENST00000528612   ⟹   ENSP00000431224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,509,011 - 48,512,719 (+)Ensembl
RefSeq Acc Id: ENST00000537758   ⟹   ENSP00000446401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,509,821 - 48,520,476 (+)Ensembl
RefSeq Acc Id: NM_001282167   ⟹   NP_001269096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,508,992 - 48,520,808 (+)NCBI
HuRefX46,031,022 - 46,042,328 (+)NCBI
CHM1_1X48,398,612 - 48,410,463 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022825   ⟹   NP_073736
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,508,992 - 48,520,808 (+)NCBI
GRCh37X48,367,347 - 48,379,202 (+)NCBI
Build 36X48,252,315 - 48,264,146 (+)NCBI Archive
HuRefX46,031,022 - 46,042,328 (+)NCBI
CHM1_1X48,398,612 - 48,410,463 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203473   ⟹   NP_982299
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,508,992 - 48,520,808 (+)NCBI
GRCh37X48,367,347 - 48,379,202 (+)NCBI
Build 36X48,252,315 - 48,264,146 (+)NCBI Archive
HuRefX46,031,022 - 46,042,328 (+)NCBI
CHM1_1X48,398,612 - 48,410,463 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203474   ⟹   NP_982300
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,509,784 - 48,520,814 (+)NCBI
GRCh37X48,367,347 - 48,379,202 (+)NCBI
Build 36X48,253,116 - 48,264,146 (+)NCBI Archive
HuRefX46,031,022 - 46,042,328 (+)NCBI
CHM1_1X48,399,437 - 48,410,463 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203475   ⟹   NP_982301
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,508,992 - 48,520,808 (+)NCBI
GRCh37X48,367,347 - 48,379,202 (+)NCBI
Build 36X48,253,116 - 48,264,146 (+)NCBI Archive
HuRefX46,031,022 - 46,042,328 (+)NCBI
CHM1_1X48,398,612 - 48,410,463 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452425   ⟹   XP_024308193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,509,005 - 48,516,345 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_982299   ⟸   NM_203473
- Peptide Label: isoform B
- UniProtKB: Q9H237 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_073736   ⟸   NM_022825
- Peptide Label: isoform A
- UniProtKB: Q9H237 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_982301   ⟸   NM_203475
- Peptide Label: isoform D
- UniProtKB: Q9H237 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_982300   ⟸   NM_203474
- Peptide Label: isoform C
- UniProtKB: Q9H237 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269096   ⟸   NM_001282167
- Peptide Label: isoform F
- UniProtKB: Q9H237 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308193   ⟸   XM_024452425
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000352946   ⟸   ENST00000359882
RefSeq Acc Id: ENSP00000354978   ⟸   ENST00000361988
RefSeq Acc Id: ENSP00000322304   ⟸   ENST00000326194
RefSeq Acc Id: ENSP00000446401   ⟸   ENST00000537758
RefSeq Acc Id: ENSP00000418644   ⟸   ENST00000470275
RefSeq Acc Id: ENSP00000356546   ⟸   ENST00000367574
RefSeq Acc Id: ENSP00000420445   ⟸   ENST00000485288
RefSeq Acc Id: ENSP00000419858   ⟸   ENST00000472520
RefSeq Acc Id: ENSP00000348233   ⟸   ENST00000355961
RefSeq Acc Id: ENSP00000431224   ⟸   ENST00000528612
RefSeq Acc Id: ENSP00000419212   ⟸   ENST00000489940

Promoters
RGD ID:6808482
Promoter ID:HG_KWN:66674
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000361988,   NM_022825,   NM_203473,   NM_203476,   OTTHUMT00000056511,   OTTHUMT00000060710,   OTTHUMT00000060711,   OTTHUMT00000060712,   UC004DJQ.1,   UC004DJU.1,   UC010NIE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,251,786 - 48,252,392 (-)MPROMDB
RGD ID:13605216
Promoter ID:EPDNEW_H28792
Type:initiation region
Name:PORCN_1
Description:porcupine homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28793  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,508,992 - 48,509,052EPDNEW
RGD ID:13605218
Promoter ID:EPDNEW_H28793
Type:initiation region
Name:PORCN_2
Description:porcupine homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28792  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,509,814 - 48,509,874EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_203475.3(PORCN):c.1109G>A (p.Arg370Gln) single nucleotide variant Focal dermal hypoplasia [RCV000022872] ChrX:48516082 [GRCh38]
ChrX:48374470 [GRCh37]
ChrX:Xp11.23
pathogenic
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_203475.3(PORCN):c.1059_1071dup (p.Thr358fs) duplication Focal dermal hypoplasia [RCV000011446] ChrX:48515922..48515923 [GRCh38]
ChrX:48374310..48374311 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg) single nucleotide variant Focal dermal hypoplasia [RCV000011447] ChrX:48511336 [GRCh38]
ChrX:48369724 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) single nucleotide variant Focal dermal hypoplasia [RCV000011448]|not provided [RCV000599522] ChrX:48511932 [GRCh38]
ChrX:48370320 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_203475.3(PORCN):c.222G>A (p.Trp74Ter) single nucleotide variant Focal dermal hypoplasia [RCV000011449] ChrX:48511380 [GRCh38]
ChrX:48369768 [GRCh37]
ChrX:Xp11.23
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: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)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:10679-156013167)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 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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
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 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 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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-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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
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
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_203473.2(PORCN):c.73G>A (p.Gly25Ser) single nucleotide variant Malignant melanoma [RCV000073203] ChrX:48509893 [GRCh38]
ChrX:48368281 [GRCh37]
ChrX:48253225 [NCBI36]
ChrX:Xp11.23
not provided
NM_203475.3(PORCN):c.1093C>T (p.Arg365Trp) single nucleotide variant not provided [RCV000082826] ChrX:48516066 [GRCh38]
ChrX:48374454 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_203475.3(PORCN):c.250del (p.Leu84fs) deletion not provided [RCV000082827] ChrX:48511407 [GRCh38]
ChrX:48369795 [GRCh37]
ChrX:Xp11.23
pathogenic
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
NM_203475.3(PORCN):c.1158G>A (p.Ser386=) single nucleotide variant History of neurodevelopmental disorder [RCV000717393]|not provided [RCV000871022]|not specified [RCV000174428] ChrX:48516131 [GRCh38]
ChrX:48374519 [GRCh37]
ChrX:Xp11.23
benign
NM_203475.3(PORCN):c.633C>T (p.Gly211=) single nucleotide variant History of neurodevelopmental disorder [RCV000717394]|not provided [RCV000871021]|not specified [RCV000179059] ChrX:48512666 [GRCh38]
ChrX:48371054 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_203475.3(PORCN):c.49_80del (p.Cys17fs) deletion Focal dermal hypoplasia [RCV001293723] ChrX:48509869..48509900 [GRCh38]
ChrX:48368257..48368288 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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)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: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: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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
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 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp11.23(chrX:48511468-48512678)x3 copy number gain See cases [RCV000137227] ChrX:48511468..48512678 [GRCh38]
ChrX:48254800..48256010 [NCBI36]
ChrX:Xp11.23
benign
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23(chrX:48511468-48512362)x2 copy number gain See cases [RCV000137240] ChrX:48511468..48512362 [GRCh38]
ChrX:48254800..48255694 [NCBI36]
ChrX:Xp11.23
benign
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 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 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
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 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
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 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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
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 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
NM_203475.3(PORCN):c.288C>T (p.Gly96=) single nucleotide variant not provided [RCV000176014] ChrX:48511446 [GRCh38]
ChrX:48369834 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
NM_203475.3(PORCN):c.1274C>T (p.Thr425Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000716508] ChrX:48517283 [GRCh38]
ChrX:48375671 [GRCh37]
ChrX:Xp11.23
likely benign
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-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: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 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:48336513-48554390)x2 copy number gain See cases [RCV000240388] ChrX:48336513..48554390 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_203475.3(PORCN):c.1291G>C (p.Gly431Arg) single nucleotide variant not provided [RCV000490242] ChrX:48520381 [GRCh38]
ChrX:48378769 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_203475.3(PORCN):c.854_871del (p.Thr285_Leu290del) deletion not provided [RCV000523693] ChrX:48514529..48514546 [GRCh38]
ChrX:48372917..48372934 [GRCh37]
ChrX:Xp11.23
likely 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
NM_203475.3(PORCN):c.1079_1081dup (p.Val360dup) duplication not provided [RCV000489833] ChrX:48515943..48515944 [GRCh38]
ChrX:48374331..48374332 [GRCh37]
ChrX:Xp11.23
likely pathogenic|uncertain significance
NM_203475.3(PORCN):c.787G>A (p.Glu263Lys) single nucleotide variant not provided [RCV000523172] ChrX:48514307 [GRCh38]
ChrX:48372695 [GRCh37]
ChrX:Xp11.23
likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_203475.3(PORCN):c.565T>C (p.Trp189Arg) single nucleotide variant Focal dermal hypoplasia [RCV000414798] ChrX:48512598 [GRCh38]
ChrX:48370986 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_203475.3(PORCN):c.1012G>A (p.Ala338Thr) single nucleotide variant not provided [RCV000731874] ChrX:48515782 [GRCh38]
ChrX:48374170 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_203475.3(PORCN):c.1250T>C (p.Phe417Ser) single nucleotide variant not provided [RCV000414381] ChrX:48517259 [GRCh38]
ChrX:48375647 [GRCh37]
ChrX:Xp11.23
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: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 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
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 Xp11.23(chrX:48300928-48578333)x3 copy number gain See cases [RCV000447325] ChrX:48300928..48578333 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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 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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_203475.3(PORCN):c.720-2A>C single nucleotide variant not provided [RCV000438464] ChrX:48514238 [GRCh38]
ChrX:48372626 [GRCh37]
ChrX:Xp11.23
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 Xp11.23(chrX:48369787-48370706)x3 copy number gain See cases [RCV000448931] ChrX:48369787..48370706 [GRCh37]
ChrX:Xp11.23
benign
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
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 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_203475.3(PORCN):c.1133C>T (p.Ser378Leu) single nucleotide variant not provided [RCV000486452] ChrX:48516106 [GRCh38]
ChrX:48374494 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
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 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
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
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) single nucleotide variant Focal dermal hypoplasia [RCV000491111] ChrX:48511426 [GRCh38]
ChrX:48369814 [GRCh37]
ChrX:Xp11.23
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 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_203475.3(PORCN):c.452C>T (p.Ser151Leu) single nucleotide variant not specified [RCV000601293] ChrX:48512404 [GRCh38]
ChrX:48370792 [GRCh37]
ChrX:Xp11.23
likely benign
NM_203475.3(PORCN):c.49T>C (p.Cys17Arg) single nucleotide variant Inborn genetic diseases [RCV000624598] ChrX:48509869 [GRCh38]
ChrX:48368257 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
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 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_203475.3(PORCN):c.853_854delinsCCCCCAG (p.Thr285fs) indel Focal dermal hypoplasia [RCV000664205] ChrX:48514532..48514533 [GRCh38]
ChrX:48372920..48372921 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_203475.3(PORCN):c.1023+2T>A single nucleotide variant Focal dermal hypoplasia [RCV000664204] ChrX:48515795 [GRCh38]
ChrX:48374183 [GRCh37]
ChrX:Xp11.23
pathogenic
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
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_203475.3(PORCN):c.930T>G (p.Ser310=) single nucleotide variant History of neurodevelopmental disorder [RCV000718595]|not provided [RCV000870506] ChrX:48514609 [GRCh38]
ChrX:48372997 [GRCh37]
ChrX:Xp11.23
benign
NM_203475.3(PORCN):c.24A>G (p.Glu8=) single nucleotide variant History of neurodevelopmental disorder [RCV000718397] ChrX:48509844 [GRCh38]
ChrX:48368232 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_203475.3(PORCN):c.453G>A (p.Ser151=) single nucleotide variant History of neurodevelopmental disorder [RCV000721075] ChrX:48512405 [GRCh38]
ChrX:48370793 [GRCh37]
ChrX:Xp11.23
likely benign
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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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
NM_203475.3(PORCN):c.1356del (p.Cys453fs) deletion Focal dermal hypoplasia [RCV000853254] ChrX:48520446 [GRCh38]
ChrX:48378834 [GRCh37]
ChrX:Xp11.23
likely 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 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_203475.3(PORCN):c.136+7G>A single nucleotide variant not provided [RCV000999412] ChrX:48509963 [GRCh38]
ChrX:48368351 [GRCh37]
ChrX:Xp11.23
likely benign
NM_203475.3(PORCN):c.872A>C (p.Asn291Thr) single nucleotide variant not provided [RCV000904136] ChrX:48514551 [GRCh38]
ChrX:48372939 [GRCh37]
ChrX:Xp11.23
benign
NM_203475.3(PORCN):c.301G>A (p.Val101Ile) single nucleotide variant not provided [RCV000904212] ChrX:48511459 [GRCh38]
ChrX:48369847 [GRCh37]
ChrX:Xp11.23
benign
NM_203475.3(PORCN):c.854C>T (p.Thr285Met) single nucleotide variant not provided [RCV000926486] ChrX:48514533 [GRCh38]
ChrX:48372921 [GRCh37]
ChrX:Xp11.23
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
NM_203473.3(PORCN):c.395T>G (p.Met132Arg) single nucleotide variant not provided [RCV000782087] ChrX:48512347 [GRCh38]
ChrX:48370735 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_203475.3(PORCN):c.960T>C (p.Asn320=) single nucleotide variant not provided [RCV000975385] ChrX:48515730 [GRCh38]
ChrX:48374118 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_203475.3(PORCN):c.82C>T (p.Gln28Ter) single nucleotide variant Focal dermal hypoplasia [RCV001095366] ChrX:48509902 [GRCh38]
ChrX:48368290 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_203475.3(PORCN):c.329+1G>A single nucleotide variant Focal dermal hypoplasia [RCV001028047] ChrX:48511488 [GRCh38]
ChrX:48369876 [GRCh37]
ChrX:Xp11.23
likely 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
NM_203475.3(PORCN):c.1049del (p.Val350fs) deletion not provided [RCV001009019] ChrX:48515915 [GRCh38]
ChrX:48374303 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp11.23(chrX:48182541-48630992)x3 copy number gain not provided [RCV000848540] ChrX:48182541..48630992 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_203475.3(PORCN):c.912C>T (p.Ser304=) single nucleotide variant not provided [RCV000897802] ChrX:48514591 [GRCh38]
ChrX:48372979 [GRCh37]
ChrX:Xp11.23
likely benign
NM_203475.3(PORCN):c.794C>T (p.Thr265Met) single nucleotide variant not provided [RCV000953407] ChrX:48514314 [GRCh38]
ChrX:48372702 [GRCh37]
ChrX:Xp11.23
benign
NM_203475.3(PORCN):c.1011C>T (p.Ser337=) single nucleotide variant not provided [RCV000912330] ChrX:48515781 [GRCh38]
ChrX:48374169 [GRCh37]
ChrX:Xp11.23
likely benign
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) single nucleotide variant Focal dermal hypoplasia [RCV001264757] ChrX:48514563 [GRCh38]
ChrX:48372951 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter) single nucleotide variant Focal dermal hypoplasia [RCV001004914] ChrX:48511441 [GRCh38]
ChrX:48369829 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23(chrX:48237630-48590047)x2 copy number gain not provided [RCV001007302] ChrX:48237630..48590047 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_203475.3(PORCN):c.626G>C (p.Cys209Ser) single nucleotide variant Global developmental delay [RCV001255387] ChrX:48512659 [GRCh38]
ChrX:48371047 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys) single nucleotide variant Focal dermal hypoplasia [RCV001290441] ChrX:48515771 [GRCh38]
ChrX:48374159 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp11.23(chrX:48225025-48601326)x1 copy number loss not provided [RCV001258949] ChrX:48225025..48601326 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_203475.3(PORCN):c.725T>A (p.Leu242Gln) single nucleotide variant not provided [RCV001311066] ChrX:48514245 [GRCh38]
ChrX:48372633 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln) single nucleotide variant Focal dermal hypoplasia [RCV000022872] ChrX:48516067 [GRCh38]
ChrX:48374455 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_203475.3(PORCN):c.964C>G (p.Leu322Val) single nucleotide variant Focal dermal hypoplasia [RCV001328870] ChrX:48515734 [GRCh38]
ChrX:48374122 [GRCh37]
ChrX:Xp11.23
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17652 AgrOrtholog
COSMIC PORCN COSMIC
Ensembl Genes ENSG00000102312 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000322304 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000348233 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000352946 UniProtKB/Swiss-Prot
  ENSP00000354978 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000356546 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418644 UniProtKB/TrEMBL
  ENSP00000419212 UniProtKB/TrEMBL
  ENSP00000419858 UniProtKB/TrEMBL
  ENSP00000420445 UniProtKB/TrEMBL
  ENSP00000431224 UniProtKB/TrEMBL
  ENSP00000446401 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000326194 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000355961 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000359882 UniProtKB/Swiss-Prot
  ENST00000361988 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000367574 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000470275 UniProtKB/TrEMBL
  ENST00000472520 UniProtKB/TrEMBL
  ENST00000485288 UniProtKB/TrEMBL
  ENST00000489940 UniProtKB/TrEMBL
  ENST00000528612 UniProtKB/TrEMBL
  ENST00000537758 UniProtKB/Swiss-Prot
GTEx ENSG00000102312 GTEx
HGNC ID HGNC:17652 ENTREZGENE
Human Proteome Map PORCN Human Proteome Map
InterPro MBOAT_fam UniProtKB/Swiss-Prot
KEGG Report hsa:64840 UniProtKB/Swiss-Prot
NCBI Gene 64840 ENTREZGENE
OMIM 300651 OMIM
  305600 OMIM
Pfam MBOAT UniProtKB/Swiss-Prot
PharmGKB PA134906089 PharmGKB
UniProt C9JWI5_HUMAN UniProtKB/TrEMBL
  F2Z360_HUMAN UniProtKB/TrEMBL
  F8WEW7_HUMAN UniProtKB/TrEMBL
  PORCN_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RBN8 UniProtKB/Swiss-Prot
  B7ZAR3 UniProtKB/Swiss-Prot
  F8VTB3 UniProtKB/TrEMBL
  Q14829 UniProtKB/Swiss-Prot
  Q9H234 UniProtKB/Swiss-Prot
  Q9H235 UniProtKB/Swiss-Prot
  Q9H236 UniProtKB/Swiss-Prot
  Q9UJU7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-05-23 PORCN  porcupine O-acyltransferase    porcupine homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED
2016-04-05 PORCN  porcupine homolog (Drosophila)  DHOF  dermal hypoplasia, focal  Data Merged 737654 PROVISIONAL
2011-08-17 PORCN  porcupine homolog (Drosophila)  PORCN  porcupine homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED