PIGS (phosphatidylinositol glycan anchor biosynthesis class S) - Rat Genome Database

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Gene: PIGS (phosphatidylinositol glycan anchor biosynthesis class S) Homo sapiens
Analyze
Symbol: PIGS
Name: phosphatidylinositol glycan anchor biosynthesis class S
RGD ID: 1354267
HGNC Page HGNC:14937
Description: Predicted to be involved in attachment of GPI anchor to protein. Located in membrane. Part of GPI-anchor transamidase complex. Implicated in developmental and epileptic encephalopathy 95.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEE95; DKFZp686K20216; FLJ45226; GPI transamidase component PIG-S; GPI transamidase subunit; GPIBD18; phosphatidylinositol glycan anchor biosynthesis, class S; phosphatidylinositol glycan, class S; phosphatidylinositol-glycan biosynthesis class S protein; PIG-S
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
GRCh381728,553,387 - 28,571,524 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,553,383 - 28,571,794 (-)EnsemblGRCh38hg38GRCh38
GRCh371726,880,405 - 26,898,542 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361723,904,532 - 23,922,655 (-)NCBINCBI36Build 36hg18NCBI36
Build 341723,904,532 - 23,922,655NCBI
Celera1723,739,431 - 23,757,914 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,089,229 - 23,107,753 (-)NCBIHuRef
CHM1_11726,942,107 - 26,960,588 (-)NCBICHM1_1
T2T-CHM13v2.01729,496,010 - 29,514,149 (-)NCBIT2T-CHM13v2.0
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
Absent speech  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachydactyly  (IAGP)
Cardiomegaly  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Cystic hygroma  (IAGP)
Deep philtrum  (IAGP)
Delayed CNS myelination  (IAGP)
EEG with burst suppression  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Feeding difficulties  (IAGP)
Fetal akinesia sequence  (IAGP)
Focal-onset seizure  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Highly arched eyebrow  (IAGP)
Hypoplasia of the pons  (IAGP)
Inability to walk  (IAGP)
Inappropriate crying  (IAGP)
Inappropriate laughter  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Joint hypermobility  (IAGP)
Long nose  (IAGP)
Low alkaline phosphatase  (IAGP)
Macroglossia  (IAGP)
Microcephaly  (IAGP)
Multifocal seizures  (IAGP)
Multiple joint contractures  (IAGP)
Nystagmus  (IAGP)
Pectus carinatum  (IAGP)
Posteriorly rotated ears  (IAGP)
Preauricular skin tag  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short 4th metacarpal  (IAGP)
Short chin  (IAGP)
Short digit  (IAGP)
Short distal phalanx of finger  (IAGP)
Short fourth metatarsal  (IAGP)
Single transverse palmar crease  (IAGP)
Status epilepticus  (IAGP)
Thickened helices  (IAGP)
Umbilical hernia  (IAGP)
Vertical forehead creases  (IAGP)
Visual impairment  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1846368   PMID:11483512   PMID:12052837   PMID:12477932   PMID:12582175   PMID:12802054   PMID:12975309   PMID:14702039   PMID:15489334   PMID:15713669   PMID:16303743   PMID:16344560  
PMID:19946888   PMID:21873635   PMID:22157746   PMID:22268729   PMID:22678362   PMID:22810586   PMID:22939629   PMID:25416956   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075  
PMID:27173435   PMID:28380382   PMID:28514442   PMID:28692057   PMID:29180619   PMID:29507755   PMID:29509190   PMID:30269814   PMID:30833792   PMID:31056421   PMID:31073040   PMID:31091453  
PMID:31732153   PMID:31871319   PMID:32149426   PMID:32296183   PMID:32409323   PMID:32628020   PMID:32707033   PMID:33060197   PMID:33410539   PMID:33545068   PMID:33845483   PMID:33961781  
PMID:34079125   PMID:34226595   PMID:34432599   PMID:34709727   PMID:35007762   PMID:35271311   PMID:35509820   PMID:35696571   PMID:35944360   PMID:36180527   PMID:36215168   PMID:36610398  
PMID:36779763   PMID:37827155   PMID:37931956   PMID:38070861  


Genomics

Comparative Map Data
PIGS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381728,553,387 - 28,571,524 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1728,553,383 - 28,571,794 (-)EnsemblGRCh38hg38GRCh38
GRCh371726,880,405 - 26,898,542 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361723,904,532 - 23,922,655 (-)NCBINCBI36Build 36hg18NCBI36
Build 341723,904,532 - 23,922,655NCBI
Celera1723,739,431 - 23,757,914 (-)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1723,089,229 - 23,107,753 (-)NCBIHuRef
CHM1_11726,942,107 - 26,960,588 (-)NCBICHM1_1
T2T-CHM13v2.01729,496,010 - 29,514,149 (-)NCBIT2T-CHM13v2.0
Pigs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391178,219,272 - 78,233,602 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1178,219,241 - 78,233,608 (+)EnsemblGRCm39 Ensembl
GRCm381178,328,422 - 78,342,776 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1178,328,415 - 78,342,782 (+)EnsemblGRCm38mm10GRCm38
MGSCv371178,141,924 - 78,156,278 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361178,144,617 - 78,158,971 (+)NCBIMGSCv36mm8
Celera1187,960,503 - 87,974,858 (+)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
Pigs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81063,720,568 - 63,735,255 (+)NCBIGRCr8
mRatBN7.21063,222,611 - 63,237,190 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1063,222,572 - 63,237,187 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1067,854,915 - 67,869,498 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01067,360,264 - 67,374,847 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01062,831,383 - 62,845,952 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01065,591,638 - 65,606,175 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1065,591,622 - 65,606,202 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01066,032,983 - 66,047,520 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41064,292,136 - 64,307,281 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11064,305,759 - 64,320,904 (-)NCBI
Celera1062,200,284 - 62,214,862 (+)NCBICelera
Cytogenetic Map10q25NCBI
Pigs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554814,583,119 - 4,597,091 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554814,583,119 - 4,597,091 (+)NCBIChiLan1.0ChiLan1.0
PIGS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21935,888,612 - 35,906,942 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11737,768,734 - 37,787,052 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01728,204,455 - 28,222,685 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11728,707,753 - 28,725,812 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1728,707,753 - 28,725,812 (+)Ensemblpanpan1.1panPan2
PIGS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1942,761,772 - 42,776,768 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl942,761,665 - 42,776,676 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha941,917,831 - 41,933,386 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0943,580,133 - 43,595,465 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl943,580,135 - 43,595,428 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1942,363,177 - 42,378,540 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0942,655,623 - 42,671,234 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0942,733,098 - 42,748,656 (-)NCBIUU_Cfam_GSD_1.0
Pigs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560241,902,036 - 41,918,868 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365384,779,313 - 4,796,767 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365384,779,325 - 4,796,960 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIGS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1244,808,339 - 44,822,245 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11244,808,326 - 44,821,428 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21246,792,703 - 46,805,820 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PIGS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11622,322,831 - 22,341,651 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1622,322,744 - 22,341,157 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660757,785,086 - 7,803,987 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pigs
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247861,141,591 - 1,156,194 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247861,141,700 - 1,156,314 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIGS
52 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3 copy number gain See cases [RCV000136494] Chr17:28283125..28904397 [GRCh38]
Chr17:26610151..27231415 [GRCh37]
Chr17:23634278..24255541 [NCBI36]
Chr17:17q11.2		 benign
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2		 likely pathogenic
NM_033198.4(PIGS):c.1201C>T (p.Gln401Ter) single nucleotide variant not specified [RCV000579349] Chr17:28555042 [GRCh38]
Chr17:26882060 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_033198.4(PIGS):c.923A>G (p.Glu308Gly) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 18 [RCV000710007] Chr17:28558487 [GRCh38]
Chr17:26885505 [GRCh37]
Chr17:17q11.2		 pathogenic|likely pathogenic
NM_033198.4(PIGS):c.1515G>A (p.Pro505=) single nucleotide variant PIGS-related condition [RCV003966309]|not provided [RCV003312380] Chr17:28554373 [GRCh38]
Chr17:26881391 [GRCh37]
Chr17:17q11.2		 likely benign
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2		 drug response
NM_033198.4(PIGS):c.202G>C (p.Val68Leu) single nucleotide variant Inborn genetic diseases [RCV003263849] Chr17:28570936 [GRCh38]
Chr17:26897954 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_033198.4(PIGS):c.108G>A (p.Trp36Ter) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 18 [RCV000710004] Chr17:28571115 [GRCh38]
Chr17:26898133 [GRCh37]
Chr17:17q11.2		 pathogenic|likely pathogenic
NM_033198.4(PIGS):c.468+1G>C single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 18 [RCV000710008] Chr17:28563430 [GRCh38]
Chr17:26890448 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_033198.4(PIGS):c.101T>C (p.Leu34Pro) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 18 [RCV000710005] Chr17:28571122 [GRCh38]
Chr17:26898140 [GRCh37]
Chr17:17q11.2		 pathogenic|likely pathogenic
NM_033198.4(PIGS):c.1316_1352delinsGGTTGCT (p.Thr439_Lys451delinsArgLeuLeu) indel Glycosylphosphatidylinositol biosynthesis defect 18 [RCV000710006] Chr17:28554891..28554927 [GRCh38]
Chr17:26881909..26881945 [GRCh37]
Chr17:17q11.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p11.2-q11.2(chr17:21279289-27474974)x2 copy number gain not provided [RCV000739439] Chr17:21279289..27474974 [GRCh37]
Chr17:17p11.2-q11.2		 likely pathogenic
NM_033198.4(PIGS):c.758G>A (p.Arg253His) single nucleotide variant PIGS-related condition [RCV003916084]|not provided [RCV000962585] Chr17:28560110 [GRCh38]
Chr17:26887128 [GRCh37]
Chr17:17q11.2		 benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2		 pathogenic
NM_033198.4(PIGS):c.1414G>A (p.Val472Ile) single nucleotide variant PIGS-related condition [RCV003928975]|not provided [RCV003312381] Chr17:28554474 [GRCh38]
Chr17:26881492 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.689C>T (p.Thr230Ile) single nucleotide variant not provided [RCV000996510] Chr17:28560179 [GRCh38]
Chr17:26887197 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.1030G>T (p.Ala344Ser) single nucleotide variant PIGS-related condition [RCV003978311]|not provided [RCV000957577] Chr17:28556877 [GRCh38]
Chr17:26883895 [GRCh37]
Chr17:17q11.2		 benign
GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3 copy number gain not provided [RCV001006886] Chr17:25274363..28450707 [GRCh37]
Chr17:17q11.1-11.2		 pathogenic
NM_033198.4(PIGS):c.1204C>T (p.Pro402Ser) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 18 [RCV001332758] Chr17:28555039 [GRCh38]
Chr17:26882057 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.1274G>A (p.Arg425Gln) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 18 [RCV001329570] Chr17:28554969 [GRCh38]
Chr17:26881987 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.526C>T (p.Arg176Trp) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 18 [RCV001329571]|Inborn genetic diseases [RCV002546335] Chr17:28561572 [GRCh38]
Chr17:26888590 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.174G>C (p.Gln58His) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 18 [RCV001449569] Chr17:28571049 [GRCh38]
Chr17:26898067 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_033198.4(PIGS):c.1070G>A (p.Gly357Asp) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 18 [RCV001449570] Chr17:28556837 [GRCh38]
Chr17:26883855 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_033198.4(PIGS):c.986C>G (p.Pro329Arg) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 18 [RCV001449571] Chr17:28556921 [GRCh38]
Chr17:26883939 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_033198.4(PIGS):c.1141_1164dup (p.Asp381_Val388dup) duplication Glycosylphosphatidylinositol biosynthesis defect 18 [RCV001449572] Chr17:28556182..28556183 [GRCh38]
Chr17:26883200..26883201 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_033198.4(PIGS):c.734G>A (p.Trp245Ter) single nucleotide variant Glycosylphosphatidylinositol biosynthesis defect 18 [RCV001449573] Chr17:28560134 [GRCh38]
Chr17:26887152 [GRCh37]
Chr17:17q11.2		 pathogenic
NM_033198.4(PIGS):c.492C>T (p.Pro164=) single nucleotide variant PIGS-related condition [RCV003956384]|not provided [RCV001815820] Chr17:28561606 [GRCh38]
Chr17:26888624 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.553C>T (p.Arg185Cys) single nucleotide variant PIGS-related condition [RCV003931346]|not provided [RCV001816198] Chr17:28561545 [GRCh38]
Chr17:26888563 [GRCh37]
Chr17:17q11.2		 likely benign
GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232) copy number gain not specified [RCV002052591] Chr17:21690653..28281232 [GRCh37]
Chr17:17p11.2-q11.2		 pathogenic
NM_033198.4(PIGS):c.363G>A (p.Ser121=) single nucleotide variant not provided [RCV002211392] Chr17:28563831 [GRCh38]
Chr17:26890849 [GRCh37]
Chr17:17q11.2		 likely benign
NC_000017.10:g.(?_26684694)_(27581367_?)dup duplication not provided [RCV003116316] Chr17:26684694..27581367 [GRCh37]
Chr17:17q11.2		 uncertain significance
NC_000017.10:g.(?_26684694)_(29701173_?)dup duplication not provided [RCV003123018] Chr17:26684694..29701173 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.1565A>G (p.Tyr522Cys) single nucleotide variant not provided [RCV002274623] Chr17:28554323 [GRCh38]
Chr17:26881341 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.864A>G (p.Ser288=) single nucleotide variant not provided [RCV002263088] Chr17:28558546 [GRCh38]
Chr17:26885564 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.1338G>A (p.Ala446=) single nucleotide variant not provided [RCV002263087] Chr17:28554905 [GRCh38]
Chr17:26881923 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.1407A>G (p.Val469=) single nucleotide variant not provided [RCV002263086] Chr17:28554481 [GRCh38]
Chr17:26881499 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.55G>T (p.Ala19Ser) single nucleotide variant Inborn genetic diseases [RCV002778422] Chr17:28571168 [GRCh38]
Chr17:26898186 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.610C>G (p.Leu204Val) single nucleotide variant Inborn genetic diseases [RCV002990838]|not provided [RCV003427657] Chr17:28561488 [GRCh38]
Chr17:26888506 [GRCh37]
Chr17:17q11.2		 likely benign|uncertain significance
NM_033198.4(PIGS):c.43C>T (p.Arg15Trp) single nucleotide variant Inborn genetic diseases [RCV002950387] Chr17:28571180 [GRCh38]
Chr17:26898198 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.1631C>T (p.Thr544Ile) single nucleotide variant Inborn genetic diseases [RCV002821118] Chr17:28554257 [GRCh38]
Chr17:26881275 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.1480G>T (p.Ala494Ser) single nucleotide variant Inborn genetic diseases [RCV002979982] Chr17:28554408 [GRCh38]
Chr17:26881426 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.1063C>T (p.Arg355Cys) single nucleotide variant Inborn genetic diseases [RCV002661447]|not provided [RCV003481407] Chr17:28556844 [GRCh38]
Chr17:26883862 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.1180C>T (p.Arg394Trp) single nucleotide variant Inborn genetic diseases [RCV002739200] Chr17:28556167 [GRCh38]
Chr17:26883185 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.319G>A (p.Ala107Thr) single nucleotide variant Inborn genetic diseases [RCV002854566] Chr17:28563875 [GRCh38]
Chr17:26890893 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.294G>A (p.Met98Ile) single nucleotide variant Inborn genetic diseases [RCV002931593] Chr17:28563900 [GRCh38]
Chr17:26890918 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.469-3C>T single nucleotide variant Inborn genetic diseases [RCV002697612] Chr17:28561632 [GRCh38]
Chr17:26888650 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.982G>A (p.Val328Met) single nucleotide variant Inborn genetic diseases [RCV002989362] Chr17:28556925 [GRCh38]
Chr17:26883943 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.671G>C (p.Ser224Thr) single nucleotide variant Inborn genetic diseases [RCV002657231] Chr17:28561427 [GRCh38]
Chr17:26888445 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.445G>A (p.Glu149Lys) single nucleotide variant Inborn genetic diseases [RCV002656789] Chr17:28563454 [GRCh38]
Chr17:26890472 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.853C>T (p.Arg285Cys) single nucleotide variant Inborn genetic diseases [RCV003212015] Chr17:28558557 [GRCh38]
Chr17:26885575 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.65T>A (p.Phe22Tyr) single nucleotide variant Inborn genetic diseases [RCV003212548] Chr17:28571158 [GRCh38]
Chr17:26898176 [GRCh37]
Chr17:17q11.2		 uncertain significance
GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3 copy number gain Developmental delay with or without intellectual impairment or behavioral abnormalities [RCV003329553] Chr17:25263507..27829791 [GRCh37]
Chr17:17q11.1-11.2		 uncertain significance
NM_033198.4(PIGS):c.793G>T (p.Ala265Ser) single nucleotide variant Inborn genetic diseases [RCV003364266] Chr17:28560075 [GRCh38]
Chr17:26887093 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.1156A>G (p.Met386Val) single nucleotide variant Inborn genetic diseases [RCV003376019] Chr17:28556191 [GRCh38]
Chr17:26883209 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.661C>G (p.Leu221Val) single nucleotide variant Inborn genetic diseases [RCV003367502] Chr17:28561437 [GRCh38]
Chr17:26888455 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.497G>C (p.Arg166Thr) single nucleotide variant Inborn genetic diseases [RCV003367548] Chr17:28561601 [GRCh38]
Chr17:26888619 [GRCh37]
Chr17:17q11.2		 uncertain significance
NM_033198.4(PIGS):c.398del (p.Glu133fs) deletion not provided [RCV003481886] Chr17:28563501 [GRCh38]
Chr17:26890519 [GRCh37]
Chr17:17q11.2		 likely pathogenic
NM_033198.4(PIGS):c.1029C>T (p.Gly343=) single nucleotide variant not provided [RCV003419685] Chr17:28556878 [GRCh38]
Chr17:26883896 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.1596C>G (p.Pro532=) single nucleotide variant not provided [RCV003428192] Chr17:28554292 [GRCh38]
Chr17:26881310 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.231C>T (p.Asp77=) single nucleotide variant not provided [RCV003428195] Chr17:28570907 [GRCh38]
Chr17:26897925 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.1468G>A (p.Ala490Thr) single nucleotide variant PIGS-related condition [RCV003938951]|not provided [RCV003428193] Chr17:28554420 [GRCh38]
Chr17:26881438 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.1467C>T (p.Val489=) single nucleotide variant not provided [RCV003428194] Chr17:28554421 [GRCh38]
Chr17:26881439 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.1005G>A (p.Pro335=) single nucleotide variant not provided [RCV003419686] Chr17:28556902 [GRCh38]
Chr17:26883920 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.1634G>A (p.Arg545His) single nucleotide variant PIGS-related condition [RCV003929084]|not provided [RCV003419684] Chr17:28554254 [GRCh38]
Chr17:26881272 [GRCh37]
Chr17:17q11.2		 benign|likely benign
NM_033198.4(PIGS):c.792C>T (p.Ala264=) single nucleotide variant PIGS-related condition [RCV003929085]|not provided [RCV003413177] Chr17:28560076 [GRCh38]
Chr17:26887094 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.1481C>G (p.Ala494Gly) single nucleotide variant PIGS-related condition [RCV003937019] Chr17:28554407 [GRCh38]
Chr17:26881425 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.215A>C (p.Glu72Ala) single nucleotide variant PIGS-related condition [RCV003914270] Chr17:28570923 [GRCh38]
Chr17:26897941 [GRCh37]
Chr17:17q11.2		 benign
NM_033198.4(PIGS):c.1667G>A (p.Ter556=) single nucleotide variant PIGS-related condition [RCV003951454] Chr17:28554221 [GRCh38]
Chr17:26881239 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.554G>A (p.Arg185His) single nucleotide variant PIGS-related condition [RCV003959259] Chr17:28561544 [GRCh38]
Chr17:26888562 [GRCh37]
Chr17:17q11.2		 likely benign
NM_033198.4(PIGS):c.286+7T>C single nucleotide variant PIGS-related condition [RCV003971464] Chr17:28570845 [GRCh38]
Chr17:26897863 [GRCh37]
Chr17:17q11.2		 benign
NM_033198.4(PIGS):c.435C>T (p.Tyr145=) single nucleotide variant PIGS-related condition [RCV003958980] Chr17:28563464 [GRCh38]
Chr17:26890482 [GRCh37]
Chr17:17q11.2		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4784
Count of miRNA genes:1074
Interacting mature miRNAs:1339
Transcripts:ENST00000268758, ENST00000308360, ENST00000395346, ENST00000465444, ENST00000484580, ENST00000487231, ENST00000492429, ENST00000543734, ENST00000577594, ENST00000577620, ENST00000580968, ENST00000582615, ENST00000582721, ENST00000583631, ENST00000584080, ENST00000584413
Prediction methods: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.

Markers in Region
G20535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,880,431 - 26,880,570UniSTSGRCh37
Build 361723,904,558 - 23,904,697RGDNCBI36
Celera1723,739,456 - 23,739,595RGD
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map17p13.2UniSTS
HuRef1723,089,254 - 23,089,393UniSTS
RH17002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,880,431 - 26,880,570UniSTSGRCh37
Build 361723,904,558 - 23,904,697RGDNCBI36
Celera1723,739,456 - 23,739,595RGD
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map17p13.2UniSTS
HuRef1723,089,254 - 23,089,393UniSTS
D17S1465E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,883,201 - 26,883,884UniSTSGRCh37
Build 361723,907,328 - 23,908,011RGDNCBI36
Celera1723,742,228 - 23,742,911RGD
Cytogenetic Map17p13.2UniSTS
HuRef1723,092,026 - 23,092,709UniSTS
D17S2156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,880,504 - 26,880,651UniSTSGRCh37
Build 361723,904,631 - 23,904,778RGDNCBI36
Celera1723,739,529 - 23,739,676RGD
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map17p13.2UniSTS
HuRef1723,089,327 - 23,089,474UniSTS
ALDOC_8198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371726,900,072 - 26,900,581UniSTSGRCh37
Build 361723,924,199 - 23,924,708RGDNCBI36
Celera1723,759,099 - 23,759,608RGD
HuRef1723,108,938 - 23,109,447UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 2417 2715 1343 250 1858 93 4343 2055 3209 396 1432 1601 171 1204 2782 3
Low 15 269 380 372 90 371 12 138 499 22 16 7 6 1
Below cutoff 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_033198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB057723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW084841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA591284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000268758   ⟹   ENSP00000268758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,383 - 28,571,528 (-)Ensembl
RefSeq Acc Id: ENST00000308360   ⟹   ENSP00000309430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,387 - 28,571,524 (-)Ensembl
RefSeq Acc Id: ENST00000395346   ⟹   ENSP00000378755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,387 - 28,571,536 (-)Ensembl
RefSeq Acc Id: ENST00000465444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,558,502 - 28,563,659 (-)Ensembl
RefSeq Acc Id: ENST00000484580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,556,469 - 28,560,348 (-)Ensembl
RefSeq Acc Id: ENST00000487231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,506 (-)Ensembl
RefSeq Acc Id: ENST00000492429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000577594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,563,727 - 28,571,510 (-)Ensembl
RefSeq Acc Id: ENST00000577620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,401 - 28,562,704 (-)Ensembl
RefSeq Acc Id: ENST00000580968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,558,502 - 28,563,661 (-)Ensembl
RefSeq Acc Id: ENST00000582615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,556,962 - 28,563,652 (-)Ensembl
RefSeq Acc Id: ENST00000582721   ⟹   ENSP00000466846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,563,432 - 28,571,538 (-)Ensembl
RefSeq Acc Id: ENST00000583631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,563,818 - 28,571,504 (-)Ensembl
RefSeq Acc Id: ENST00000584080   ⟹   ENSP00000463406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,401 - 28,571,540 (-)Ensembl
RefSeq Acc Id: ENST00000584413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,563,828 - 28,571,794 (-)Ensembl
RefSeq Acc Id: ENST00000706175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,401 - 28,563,992 (-)Ensembl
RefSeq Acc Id: ENST00000706176   ⟹   ENSP00000516253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,401 - 28,571,407 (-)Ensembl
RefSeq Acc Id: ENST00000706177   ⟹   ENSP00000516254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,401 - 28,571,519 (-)Ensembl
RefSeq Acc Id: ENST00000706178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,563,691 (-)Ensembl
RefSeq Acc Id: ENST00000706179   ⟹   ENSP00000516255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,095 (-)Ensembl
RefSeq Acc Id: ENST00000706180   ⟹   ENSP00000516256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,097 (-)Ensembl
RefSeq Acc Id: ENST00000706181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,319 (-)Ensembl
RefSeq Acc Id: ENST00000706182   ⟹   ENSP00000516257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,528 (-)Ensembl
RefSeq Acc Id: ENST00000706183   ⟹   ENSP00000516258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000706184   ⟹   ENSP00000516259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000706185   ⟹   ENSP00000516260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000706186   ⟹   ENSP00000516261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000706187   ⟹   ENSP00000516262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000706188   ⟹   ENSP00000516263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000706189   ⟹   ENSP00000516264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000706190   ⟹   ENSP00000516265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000706191   ⟹   ENSP00000516266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000706192   ⟹   ENSP00000516267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000706193   ⟹   ENSP00000516268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,530 (-)Ensembl
RefSeq Acc Id: ENST00000706194   ⟹   ENSP00000516269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1728,553,555 - 28,571,533 (-)Ensembl
RefSeq Acc Id: NM_033198   ⟹   NP_149975
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,553,387 - 28,571,524 (-)NCBI
GRCh371726,880,405 - 26,898,887 (-)NCBI
Build 361723,904,532 - 23,922,655 (-)NCBI Archive
Celera1723,739,431 - 23,757,914 (-)RGD
HuRef1723,089,229 - 23,107,753 (-)ENTREZGENE
CHM1_11726,942,107 - 26,960,588 (-)NCBI
T2T-CHM13v2.01729,496,010 - 29,514,149 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_149975 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF28987 (Get FASTA)   NCBI Sequence Viewer  
  AAH01319 (Get FASTA)   NCBI Sequence Viewer  
  AAH07301 (Get FASTA)   NCBI Sequence Viewer  
  AAH69228 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89470 (Get FASTA)   NCBI Sequence Viewer  
  BAB60853 (Get FASTA)   NCBI Sequence Viewer  
  BAB70938 (Get FASTA)   NCBI Sequence Viewer  
  BAC11615 (Get FASTA)   NCBI Sequence Viewer  
  BAG37159 (Get FASTA)   NCBI Sequence Viewer  
  BAG54444 (Get FASTA)   NCBI Sequence Viewer  
  BAG59572 (Get FASTA)   NCBI Sequence Viewer  
  CAE45912 (Get FASTA)   NCBI Sequence Viewer  
  CAH05658 (Get FASTA)   NCBI Sequence Viewer  
  EAW51099 (Get FASTA)   NCBI Sequence Viewer  
  EAW51100 (Get FASTA)   NCBI Sequence Viewer  
  EAW51101 (Get FASTA)   NCBI Sequence Viewer  
  EAW51102 (Get FASTA)   NCBI Sequence Viewer  
  EAW51103 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000268758.9
  ENSP00000309430
  ENSP00000309430.7
  ENSP00000378755.2
  ENSP00000463406.2
  ENSP00000466846.1
  ENSP00000516253.1
  ENSP00000516254.1
  ENSP00000516255.1
  ENSP00000516256.1
  ENSP00000516257.1
  ENSP00000516258.1
  ENSP00000516259.1
  ENSP00000516260.1
  ENSP00000516261.1
  ENSP00000516262.1
  ENSP00000516263.1
  ENSP00000516264.1
  ENSP00000516265.1
  ENSP00000516266.1
  ENSP00000516267.1
  ENSP00000516268.1
  ENSP00000516269.1
GenBank Protein Q96S52 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_149975   ⟸   NM_033198
- UniProtKB: Q6UVX6 (UniProtKB/Swiss-Prot),   Q96S52 (UniProtKB/Swiss-Prot),   Q8NBL9 (UniProtKB/TrEMBL),   A0A994J801 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000466846   ⟸   ENST00000582721
RefSeq Acc Id: ENSP00000268758   ⟸   ENST00000268758
RefSeq Acc Id: ENSP00000309430   ⟸   ENST00000308360
RefSeq Acc Id: ENSP00000463406   ⟸   ENST00000584080
RefSeq Acc Id: ENSP00000378755   ⟸   ENST00000395346
RefSeq Acc Id: ENSP00000516265   ⟸   ENST00000706190
RefSeq Acc Id: ENSP00000516262   ⟸   ENST00000706187
RefSeq Acc Id: ENSP00000516259   ⟸   ENST00000706184
RefSeq Acc Id: ENSP00000516264   ⟸   ENST00000706189
RefSeq Acc Id: ENSP00000516266   ⟸   ENST00000706191
RefSeq Acc Id: ENSP00000516254   ⟸   ENST00000706177
RefSeq Acc Id: ENSP00000516258   ⟸   ENST00000706183
RefSeq Acc Id: ENSP00000516253   ⟸   ENST00000706176
RefSeq Acc Id: ENSP00000516269   ⟸   ENST00000706194
RefSeq Acc Id: ENSP00000516257   ⟸   ENST00000706182
RefSeq Acc Id: ENSP00000516267   ⟸   ENST00000706192
RefSeq Acc Id: ENSP00000516268   ⟸   ENST00000706193
RefSeq Acc Id: ENSP00000516263   ⟸   ENST00000706188
RefSeq Acc Id: ENSP00000516255   ⟸   ENST00000706179
RefSeq Acc Id: ENSP00000516256   ⟸   ENST00000706180
RefSeq Acc Id: ENSP00000516260   ⟸   ENST00000706185
RefSeq Acc Id: ENSP00000516261   ⟸   ENST00000706186

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96S52-F1-model_v2 AlphaFold Q96S52 1-555 view protein structure

Promoters
RGD ID:6852098
Promoter ID:EP73855
Type:initiation region
Name:HS_PIGS
Description:Phosphatidylinositol glycan, class S.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361723,922,651 - 23,922,711EPD
RGD ID:7234373
Promoter ID:EPDNEW_H22932
Type:initiation region
Name:PIGS_2
Description:phosphatidylinositol glycan anchor biosynthesis class S
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22933  EPDNEW_H22934  EPDNEW_H22935  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,558,566 - 28,558,626EPDNEW
RGD ID:7234375
Promoter ID:EPDNEW_H22933
Type:initiation region
Name:PIGS_3
Description:phosphatidylinositol glycan anchor biosynthesis class S
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22932  EPDNEW_H22934  EPDNEW_H22935  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,560,120 - 28,560,180EPDNEW
RGD ID:7234377
Promoter ID:EPDNEW_H22934
Type:initiation region
Name:PIGS_4
Description:phosphatidylinositol glycan anchor biosynthesis class S
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22932  EPDNEW_H22933  EPDNEW_H22935  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,563,518 - 28,563,578EPDNEW
RGD ID:7234379
Promoter ID:EPDNEW_H22935
Type:initiation region
Name:PIGS_1
Description:phosphatidylinositol glycan anchor biosynthesis class S
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22932  EPDNEW_H22933  EPDNEW_H22934  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381728,571,506 - 28,571,566EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14937 AgrOrtholog
COSMIC PIGS COSMIC
Ensembl Genes ENSG00000087111 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000268758.13 UniProtKB/TrEMBL
  ENST00000308360 ENTREZGENE
  ENST00000308360.8 UniProtKB/Swiss-Prot
  ENST00000395346.6 UniProtKB/Swiss-Prot
  ENST00000582721.5 UniProtKB/TrEMBL
  ENST00000584080.6 UniProtKB/TrEMBL
  ENST00000706176.1 UniProtKB/TrEMBL
  ENST00000706177.1 UniProtKB/TrEMBL
  ENST00000706179.1 UniProtKB/TrEMBL
  ENST00000706180.1 UniProtKB/TrEMBL
  ENST00000706182.1 UniProtKB/TrEMBL
  ENST00000706183.1 UniProtKB/TrEMBL
  ENST00000706184.1 UniProtKB/TrEMBL
  ENST00000706185.1 UniProtKB/TrEMBL
  ENST00000706186.1 UniProtKB/TrEMBL
  ENST00000706187.1 UniProtKB/TrEMBL
  ENST00000706188.1 UniProtKB/TrEMBL
  ENST00000706189.1 UniProtKB/TrEMBL
  ENST00000706190.1 UniProtKB/TrEMBL
  ENST00000706191.1 UniProtKB/TrEMBL
  ENST00000706192.1 UniProtKB/TrEMBL
  ENST00000706193.1 UniProtKB/TrEMBL
  ENST00000706194.1 UniProtKB/TrEMBL
GTEx ENSG00000087111 GTEx
HGNC ID HGNC:14937 ENTREZGENE
Human Proteome Map PIGS Human Proteome Map
InterPro PtdIno-glycan_biosynth_class_S UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:94005 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 94005 ENTREZGENE
OMIM 610271 OMIM
PANTHER GPI TRANSAMIDASE COMPONENT PIG-S UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21072 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PIG-S UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33301 PharmGKB
UniProt A0A994J546_HUMAN UniProtKB/TrEMBL
  A0A994J550_HUMAN UniProtKB/TrEMBL
  A0A994J555_HUMAN UniProtKB/TrEMBL
  A0A994J5E2_HUMAN UniProtKB/TrEMBL
  A0A994J5E6_HUMAN UniProtKB/TrEMBL
  A0A994J5F0_HUMAN UniProtKB/TrEMBL
  A0A994J5F5_HUMAN UniProtKB/TrEMBL
  A0A994J5S0_HUMAN UniProtKB/TrEMBL
  A0A994J5S5_HUMAN UniProtKB/TrEMBL
  A0A994J5S7_HUMAN UniProtKB/TrEMBL
  A0A994J7M3_HUMAN UniProtKB/TrEMBL
  A0A994J7M6_HUMAN UniProtKB/TrEMBL
  A0A994J7M9_HUMAN UniProtKB/TrEMBL
  A0A994J801 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J804_HUMAN UniProtKB/TrEMBL
  A0A994J808_HUMAN UniProtKB/TrEMBL
  A0A994J810_HUMAN UniProtKB/TrEMBL
  H0Y2N5_HUMAN UniProtKB/TrEMBL
  J3QL67_HUMAN UniProtKB/TrEMBL
  K7EN97_HUMAN UniProtKB/TrEMBL
  PIGS_HUMAN UniProtKB/Swiss-Prot
  Q6UVX6 ENTREZGENE
  Q8NBL9 ENTREZGENE, UniProtKB/TrEMBL
  Q96IR5_HUMAN UniProtKB/TrEMBL
  Q96S52 ENTREZGENE
  Q9BVC1_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q6UVX6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 PIGS  phosphatidylinositol glycan anchor biosynthesis class S  PIGS  phosphatidylinositol glycan anchor biosynthesis, class S  Symbol and/or name change 5135510 APPROVED