INPP5K (inositol polyphosphate-5-phosphatase K) - Rat Genome Database

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Gene: INPP5K (inositol polyphosphate-5-phosphatase K) Homo sapiens
Analyze
Symbol: INPP5K
Name: inositol polyphosphate-5-phosphatase K
RGD ID: 1604357
HGNC Page HGNC:33882
Description: Enables phosphatase activity. Involved in several processes, including negative regulation of protein phosphorylation; negative regulation of signal transduction; and negative regulation of transport. Acts upstream of or within inositol phosphate dephosphorylation and phosphatidylinositol dephosphorylation. Located in several cellular components, including perinuclear region of cytoplasm; ruffle membrane; and trans-Golgi network. Implicated in congenital muscular dystrophy with cataracts and intellectual disability.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: inositol polyphosphate 5-phosphatase K; MDCCAID; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase; phosphatidylinositol-4,5-bisphosphate 5-phosphatase; PPS; skeletal muscle and kidney enriched inositol phosphatase; skeletal muscle and kidney-enriched inositol phosphatase; SKIP
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
GRCh38171,494,577 - 1,516,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl171,494,577 - 1,516,742 (-)EnsemblGRCh38hg38GRCh38
GRCh37171,397,871 - 1,419,906 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36171,344,621 - 1,366,704 (-)NCBINCBI36Build 36hg18NCBI36
Celera171,413,368 - 1,435,621 (-)NCBICelera
Cytogenetic Map17p13.3NCBI
HuRef171,298,037 - 1,320,343 (-)NCBIHuRef
CHM1_1171,406,563 - 1,428,873 (-)NCBICHM1_1
T2T-CHM13v2.0171,383,334 - 1,405,368 (-)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
actin cytoskeleton organization  (NAS)
cellular response to cAMP  (IEA,ISS)
cellular response to epidermal growth factor stimulus  (IDA)
cellular response to hormone stimulus  (IEA,ISS)
cellular response to insulin stimulus  (IDA)
cellular response to tumor necrosis factor  (IDA)
dephosphorylation  (IDA,IEA,IMP)
G protein-coupled receptor signaling pathway  (IEA,ISS)
glucose homeostasis  (IEA,ISO,ISS)
in utero embryonic development  (IEA,ISO)
inositol phosphate dephosphorylation  (IBA,IDA)
lipid metabolic process  (IEA)
negative regulation by host of viral transcription  (IDA)
negative regulation of calcium ion transport  (IDA)
negative regulation of dephosphorylation  (IEA,ISS)
negative regulation of DNA-templated transcription  (IEA,ISS)
negative regulation of glucose transmembrane transport  (IDA)
negative regulation of glycogen (starch) synthase activity  (IEA,ISS)
negative regulation of glycogen biosynthetic process  (IBA,IDA,IEA)
negative regulation of insulin receptor signaling pathway  (IBA,IDA,IEA)
negative regulation of MAP kinase activity  (IDA)
negative regulation of peptidyl-serine phosphorylation  (IBA,IDA,IEA,ISO)
negative regulation of peptidyl-threonine phosphorylation  (IDA)
negative regulation of protein kinase activity  (IDA)
negative regulation of protein kinase B signaling  (IBA,IDA,IEA)
negative regulation of protein phosphorylation  (IEA,ISS)
negative regulation of protein targeting to membrane  (IDA)
negative regulation of single stranded viral RNA replication via double stranded DNA intermediate  (IDA)
negative regulation of stress fiber assembly  (IDA)
organophosphate metabolic process  (IEA)
phosphatidylinositol biosynthetic process  (TAS)
phosphatidylinositol dephosphorylation  (IBA,IDA,IEA)
positive regulation of DNA-templated transcription  (IEA,ISS)
positive regulation of renal water transport  (IEA,ISS)
positive regulation of urine volume  (IEA,ISS)
protein localization to plasma membrane  (IEA,ISS)
regulation of glycogen biosynthetic process  (IEA,ISS)
response to insulin  (IEA,ISO)
ruffle assembly  (IDA)

Cellular Component

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

Human Phenotype
Abnormal aldolase level  (IAGP)
Abnormal cerebellar vermis morphology  (IAGP)
Abnormal circulating creatine kinase concentration  (IAGP)
Abnormal lactate dehydrogenase level  (IAGP)
Abnormal metacarpal morphology  (IAGP)
Abnormality of finger  (IAGP)
Aplasia/Hypoplasia involving the skeletal musculature  (IAGP)
Areflexia  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Brachydactyly  (IAGP)
Cataract  (IAGP)
Cerebellar hypoplasia  (IAGP)
Coxa valga  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dysphonia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
External genital hypoplasia  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Gowers sign  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hyperlordosis  (IAGP)
Hypogonadism  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Increased adipose tissue  (IAGP)
Intellectual disability  (IAGP)
Lower limb spasticity  (IAGP)
Metatarsus valgus  (IAGP)
Microcephaly  (IAGP)
Motor delay  (IAGP)
Muscle flaccidity  (IAGP)
Muscle stiffness  (IAGP)
Muscular dystrophy  (IAGP)
Myopathy  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Pectus carinatum  (IAGP)
Peripheral neuropathy  (IAGP)
Progressive  (IAGP)
Respiratory insufficiency  (IAGP)
Rigidity  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe short stature  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Spinal rigidity  (IAGP)
Strabismus  (IAGP)
Tip-toe gait  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8968499   PMID:8968500   PMID:10753883   PMID:11509665   PMID:12477932   PMID:12536145   PMID:12556481   PMID:12621583   PMID:16002321   PMID:16189514   PMID:17353931   PMID:18573875  
PMID:18774950   PMID:19946888   PMID:21712384   PMID:21873635   PMID:21900206   PMID:21903422   PMID:21988832   PMID:22658674   PMID:22751929   PMID:22815484   PMID:25241900   PMID:25277244  
PMID:25416956   PMID:26186194   PMID:26940976   PMID:26972000   PMID:27503909   PMID:28190456   PMID:28190459   PMID:28325809   PMID:28380382   PMID:28514442   PMID:28940338   PMID:29607885  
PMID:29892012   PMID:30225765   PMID:31586073   PMID:31628071   PMID:31753913   PMID:32149426   PMID:32296183   PMID:32420386   PMID:32694731   PMID:32814053   PMID:33060052   PMID:33637726  
PMID:33792664   PMID:33961781   PMID:34556534   PMID:35271311  


Genomics

Comparative Map Data
INPP5K
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38171,494,577 - 1,516,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl171,494,577 - 1,516,742 (-)EnsemblGRCh38hg38GRCh38
GRCh37171,397,871 - 1,419,906 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36171,344,621 - 1,366,704 (-)NCBINCBI36Build 36hg18NCBI36
Celera171,413,368 - 1,435,621 (-)NCBICelera
Cytogenetic Map17p13.3NCBI
HuRef171,298,037 - 1,320,343 (-)NCBIHuRef
CHM1_1171,406,563 - 1,428,873 (-)NCBICHM1_1
T2T-CHM13v2.0171,383,334 - 1,405,368 (-)NCBIT2T-CHM13v2.0
Inpp5k
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,519,893 - 75,539,691 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1175,521,814 - 75,539,697 (+)EnsemblGRCm39 Ensembl
GRCm381175,629,067 - 75,648,865 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,630,988 - 75,648,871 (+)EnsemblGRCm38mm10GRCm38
MGSCv371175,444,522 - 75,462,367 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361175,447,215 - 75,465,060 (+)NCBIMGSCv36mm8
Celera1183,140,156 - 83,157,894 (+)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1145.92NCBI
Inpp5k
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21060,474,262 - 60,495,813 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1060,475,897 - 60,496,773 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1065,122,645 - 65,142,529 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01064,628,064 - 64,647,946 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01060,090,639 - 60,110,523 (+)NCBIRnor_WKY
Rnor_6.01063,775,639 - 63,796,879 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1063,776,378 - 63,795,899 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01064,209,340 - 64,228,728 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41062,953,425 - 62,971,016 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11062,967,047 - 62,984,638 (+)NCBI
Celera1059,503,324 - 59,523,140 (+)NCBICelera
Cytogenetic Map10q24NCBI
Inpp5k
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554811,651,902 - 1,673,893 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554811,651,422 - 1,674,402 (+)NCBIChiLan1.0ChiLan1.0
INPP5K
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1171,377,310 - 1,399,373 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl171,377,312 - 1,399,373 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0171,477,511 - 1,499,765 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
INPP5K
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1945,660,445 - 45,680,407 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl945,660,446 - 45,680,363 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha944,812,547 - 44,832,619 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0946,488,250 - 46,508,538 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl946,487,348 - 46,508,366 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1945,258,657 - 45,278,900 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0945,553,108 - 45,573,180 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0945,606,572 - 45,626,642 (-)NCBIUU_Cfam_GSD_1.0
Inpp5k
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560244,763,537 - 44,785,099 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365387,641,485 - 7,662,033 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
INPP5K
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1247,718,491 - 47,738,475 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11247,717,898 - 47,738,540 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21249,602,564 - 49,623,319 (-)NCBISscrofa10.2Sscrofa10.2susScr3
INPP5K
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1161,171,059 - 1,192,241 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl161,170,899 - 1,191,965 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605920,795,694 - 20,817,596 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Inpp5k
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247864,214,916 - 4,236,563 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247864,213,430 - 4,236,930 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
SGC30584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,398,907 - 1,399,031UniSTSGRCh37
Build 36171,345,657 - 1,345,781RGDNCBI36
Celera171,414,404 - 1,414,528RGD
Cytogenetic Map17p13.3UniSTS
HuRef171,299,073 - 1,299,197UniSTS
GeneMap99-GB4 RH Map1722.37UniSTS
Whitehead-RH Map1725.8UniSTS
NCBI RH Map1734.5UniSTS
A004Q21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,397,874 - 1,397,996UniSTSGRCh37
Build 36171,344,624 - 1,344,746RGDNCBI36
Celera171,413,371 - 1,413,493RGD
Cytogenetic Map17p13.3UniSTS
HuRef171,298,040 - 1,298,162UniSTS
GeneMap99-GB4 RH Map1720.45UniSTS
SHGC-32158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,421,304 - 1,421,443UniSTSGRCh37
Build 36171,368,054 - 1,368,193RGDNCBI36
Celera171,436,741 - 1,436,880RGD
Cytogenetic Map17p13.3UniSTS
HuRef171,321,463 - 1,321,602UniSTS
Stanford-G3 RH Map1755.0UniSTS
NCBI RH Map1732.3UniSTS
GeneMap99-G3 RH Map1755.0UniSTS
RH11672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,398,992 - 1,399,392UniSTSGRCh37
Build 36171,345,742 - 1,346,142RGDNCBI36
Celera171,414,489 - 1,414,889RGD
Cytogenetic Map17p13.3UniSTS
HuRef171,299,158 - 1,299,558UniSTS
GeneMap99-GB4 RH Map1722.47UniSTS
NCBI RH Map1740.3UniSTS
A004M12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,421,320 - 1,421,424UniSTSGRCh37
Build 36171,368,070 - 1,368,174RGDNCBI36
Celera171,436,757 - 1,436,861RGD
Cytogenetic Map17p13.3UniSTS
HuRef171,321,479 - 1,321,583UniSTS
GeneMap99-GB4 RH Map1722.47UniSTS
NCBI RH Map1740.3UniSTS
SKIP_9759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,397,804 - 1,398,710UniSTSGRCh37
Build 36171,344,554 - 1,345,460RGDNCBI36
Celera171,413,301 - 1,414,207RGD
HuRef171,297,970 - 1,298,876UniSTS
WI-14374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,397,880 - 1,398,029UniSTSGRCh37
Build 36171,344,630 - 1,344,779RGDNCBI36
Celera171,413,377 - 1,413,526RGD
Cytogenetic Map17p13.3UniSTS
HuRef171,298,046 - 1,298,195UniSTS
GeneMap99-GB4 RH Map1718.64UniSTS
Whitehead-RH Map1726.5UniSTS
SHGC-34337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,421,683 - 1,421,832UniSTSGRCh37
Build 36171,368,433 - 1,368,582RGDNCBI36
Celera171,437,120 - 1,437,269RGD
Cytogenetic Map17p13.3UniSTS
HuRef171,321,842 - 1,321,991UniSTS
Stanford-G3 RH Map1760.0UniSTS
GeneMap99-GB4 RH Map178.19UniSTS
Whitehead-RH Map1740.7UniSTS
NCBI RH Map1729.8UniSTS
GeneMap99-G3 RH Map1760.0UniSTS
D17S1376E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,421,427 - 1,421,506UniSTSGRCh37
Build 36171,368,177 - 1,368,256RGDNCBI36
Celera171,436,864 - 1,436,943RGD
Cytogenetic Map17p13.3UniSTS
HuRef171,321,586 - 1,321,665UniSTS
GeneMap99-GB4 RH Map1722.37UniSTS
NCBI RH Map1740.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7567
Count of miRNA genes:1195
Interacting mature miRNAs:1525
Transcripts:ENST00000320345, ENST00000350761, ENST00000397335, ENST00000406424, ENST00000421807, ENST00000445774, ENST00000449479, ENST00000460733, ENST00000461552, ENST00000477115, ENST00000477910, ENST00000481867, ENST00000487039, ENST00000495339, ENST00000498390, ENST00000542125, ENST00000571274, ENST00000573790, ENST00000574561, ENST00000574955, ENST00000575172, ENST00000576646
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2396 2824 1406 312 1887 155 4299 2065 3265 352 1413 1582 170 1204 2782 3
Low 43 167 320 312 64 310 57 132 469 67 47 31 5 1 6 3 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB036829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB036830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB036831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC100748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG722885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM510617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U45973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000320345   ⟹   ENSP00000318476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,494,757 - 1,516,735 (-)Ensembl
RefSeq Acc Id: ENST00000350761   ⟹   ENSP00000254712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,495,567 - 1,516,618 (-)Ensembl
RefSeq Acc Id: ENST00000406424   ⟹   ENSP00000385177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,494,609 - 1,516,742 (-)Ensembl
RefSeq Acc Id: ENST00000421807   ⟹   ENSP00000413937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,494,577 - 1,516,612 (-)Ensembl
RefSeq Acc Id: ENST00000445774   ⟹   ENSP00000389334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,509,341 - 1,516,680 (-)Ensembl
RefSeq Acc Id: ENST00000449479   ⟹   ENSP00000413259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,497,936 - 1,516,594 (-)Ensembl
RefSeq Acc Id: ENST00000460733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,508,977 - 1,513,512 (-)Ensembl
RefSeq Acc Id: ENST00000461552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,496,489 - 1,498,201 (-)Ensembl
RefSeq Acc Id: ENST00000477115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,498,079 - 1,507,705 (-)Ensembl
RefSeq Acc Id: ENST00000477910   ⟹   ENSP00000467376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,509,683 - 1,516,612 (-)Ensembl
RefSeq Acc Id: ENST00000481867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,498,061 - 1,508,500 (-)Ensembl
RefSeq Acc Id: ENST00000487039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,495,800 - 1,496,461 (-)Ensembl
RefSeq Acc Id: ENST00000495339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,497,758 - 1,507,020 (-)Ensembl
RefSeq Acc Id: ENST00000498390   ⟹   ENSP00000466929
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,509,715 - 1,516,653 (-)Ensembl
RefSeq Acc Id: ENST00000571274   ⟹   ENSP00000458413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,509,250 - 1,515,701 (-)Ensembl
RefSeq Acc Id: ENST00000573790   ⟹   ENSP00000461846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,508,130 - 1,516,582 (-)Ensembl
RefSeq Acc Id: ENST00000574561   ⟹   ENSP00000461105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,496,155 - 1,516,627 (-)Ensembl
RefSeq Acc Id: ENST00000574955   ⟹   ENSP00000459029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,510,421 - 1,516,661 (-)Ensembl
RefSeq Acc Id: ENST00000575172   ⟹   ENSP00000459758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,506,993 - 1,516,618 (-)Ensembl
RefSeq Acc Id: ENST00000576646   ⟹   ENSP00000466632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl171,507,086 - 1,513,979 (-)Ensembl
RefSeq Acc Id: NM_001135642   ⟹   NP_001129114
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,494,577 - 1,516,612 (-)NCBI
GRCh37171,397,869 - 1,420,182 (-)NCBI
HuRef171,298,037 - 1,320,343 (-)ENTREZGENE
CHM1_1171,406,563 - 1,428,873 (-)NCBI
T2T-CHM13v2.0171,383,334 - 1,405,368 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016532   ⟹   NP_057616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,494,577 - 1,516,612 (-)NCBI
GRCh37171,397,869 - 1,420,182 (-)NCBI
Build 36171,344,621 - 1,366,704 (-)NCBI Archive
HuRef171,298,037 - 1,320,343 (-)ENTREZGENE
CHM1_1171,406,563 - 1,428,873 (-)NCBI
T2T-CHM13v2.0171,383,334 - 1,405,368 (-)NCBI
Sequence:
RefSeq Acc Id: NM_130766   ⟹   NP_570122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,494,577 - 1,516,612 (-)NCBI
GRCh37171,397,869 - 1,420,182 (-)NCBI
Build 36171,344,621 - 1,366,704 (-)NCBI Archive
HuRef171,298,037 - 1,320,343 (-)ENTREZGENE
CHM1_1171,406,563 - 1,428,873 (-)NCBI
T2T-CHM13v2.0171,383,334 - 1,405,368 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523934   ⟹   XP_011522236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,494,577 - 1,516,612 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450802   ⟹   XP_024306570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,494,577 - 1,516,612 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436294   ⟹   XP_047292250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,494,577 - 1,516,612 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_057616   ⟸   NM_016532
- Peptide Label: isoform 1
- UniProtKB: Q9P2R5 (UniProtKB/Swiss-Prot),   Q9BT40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_570122   ⟸   NM_130766
- Peptide Label: isoform 2
- UniProtKB: Q9BT40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129114   ⟸   NM_001135642
- Peptide Label: isoform 2
- UniProtKB: Q9BT40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011522236   ⟸   XM_011523934
- Peptide Label: isoform X1
- UniProtKB: Q9BT40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024306570   ⟸   XM_024450802
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000467376   ⟸   ENST00000477910
RefSeq Acc Id: ENSP00000318476   ⟸   ENST00000320345
RefSeq Acc Id: ENSP00000458413   ⟸   ENST00000571274
RefSeq Acc Id: ENSP00000461846   ⟸   ENST00000573790
RefSeq Acc Id: ENSP00000459029   ⟸   ENST00000574955
RefSeq Acc Id: ENSP00000461105   ⟸   ENST00000574561
RefSeq Acc Id: ENSP00000254712   ⟸   ENST00000350761
RefSeq Acc Id: ENSP00000459758   ⟸   ENST00000575172
RefSeq Acc Id: ENSP00000466929   ⟸   ENST00000498390
RefSeq Acc Id: ENSP00000466632   ⟸   ENST00000576646
RefSeq Acc Id: ENSP00000385177   ⟸   ENST00000406424
RefSeq Acc Id: ENSP00000389334   ⟸   ENST00000445774
RefSeq Acc Id: ENSP00000413259   ⟸   ENST00000449479
RefSeq Acc Id: ENSP00000413937   ⟸   ENST00000421807
RefSeq Acc Id: XP_047292250   ⟸   XM_047436294
- Peptide Label: isoform X2
- UniProtKB: B7Z4V9 (UniProtKB/TrEMBL)
Protein Domains
IPPc   SKICH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BT40-F1-model_v2 AlphaFold Q9BT40 1-448 view protein structure

Promoters
RGD ID:6794605
Promoter ID:HG_KWN:24625
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000255247,   OTTHUMT00000319382,   OTTHUMT00000319384,   OTTHUMT00000319385,   OTTHUMT00000319386,   OTTHUMT00000319387,   UC002FSQ.1,   UC002FSR.1,   UC002FSS.1,   UC010CJR.1,   UC010CJS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36171,365,711 - 1,367,022 (-)MPROMDB
RGD ID:7233259
Promoter ID:EPDNEW_H22375
Type:initiation region
Name:INPP5K_1
Description:inositol polyphosphate-5-phosphatase K
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22376  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,516,612 - 1,516,672EPDNEW
RGD ID:7233261
Promoter ID:EPDNEW_H22376
Type:initiation region
Name:INPP5K_2
Description:inositol polyphosphate-5-phosphatase K
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22375  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38171,516,882 - 1,516,942EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1 copy number loss See cases [RCV000050815] Chr17:1065649..2261786 [GRCh38]
Chr17:968889..2165080 [GRCh37]
Chr17:915639..2111830 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:198748-3102332)x1 copy number loss See cases [RCV000050936] Chr17:198748..3102332 [GRCh38]
Chr17:50690..3005626 [GRCh37]
Chr17:48539..2952376 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1368601-1589181)x3 copy number gain See cases [RCV000050827] Chr17:1368601..1589181 [GRCh38]
Chr17:1271895..1492475 [GRCh37]
Chr17:1218645..1439225 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1227482-1506548)x1 copy number loss See cases [RCV000051181] Chr17:1227482..1506548 [GRCh38]
Chr17:1130776..1409842 [GRCh37]
Chr17:1077526..1356592 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:644280-2193615)x3 copy number gain See cases [RCV000051125] Chr17:644280..2193615 [GRCh38]
Chr17:547520..2096909 [GRCh37]
Chr17:494270..2043659 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:198748-2261786)x1 copy number loss See cases [RCV000051148] Chr17:198748..2261786 [GRCh38]
Chr17:50690..2165080 [GRCh37]
Chr17:48539..2111830 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:847955-1589181)x3 copy number gain See cases [RCV000051045] Chr17:847955..1589181 [GRCh38]
Chr17:751195..1492475 [GRCh37]
Chr17:697945..1439225 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:436763-2527511)x3 copy number gain See cases [RCV000052432] Chr17:436763..2527511 [GRCh38]
Chr17:396627..2430805 [GRCh37]
Chr17:286785..2377555 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:445331-2385512)x3 copy number gain See cases [RCV000052434] Chr17:445331..2385512 [GRCh38]
Chr17:396627..2288806 [GRCh37]
Chr17:295350..2235556 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1174818-1634495)x3 copy number gain See cases [RCV000052447] Chr17:1174818..1634495 [GRCh38]
Chr17:1078112..1537789 [GRCh37]
Chr17:1024862..1484539 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3 copy number gain See cases [RCV000052448] Chr17:1287199..3154232 [GRCh38]
Chr17:1190493..3057526 [GRCh37]
Chr17:1137243..3004276 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1325809-1638055)x3 copy number gain See cases [RCV000052449] Chr17:1325809..1638055 [GRCh38]
Chr17:1229103..1541349 [GRCh37]
Chr17:1175853..1488099 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:234496-2385512)x3 copy number gain See cases [RCV000052429] Chr17:234496..2385512 [GRCh38]
Chr17:396627..2288806 [GRCh37]
Chr17:84287..2235556 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-3436345)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|See cases [RCV000053386] Chr17:198748..3436345 [GRCh38]
Chr17:50690..3339639 [GRCh37]
Chr17:48539..3286389 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:1281181-1541624)x1 copy number loss See cases [RCV000053403] Chr17:1281181..1541624 [GRCh38]
Chr17:1184475..1444918 [GRCh37]
Chr17:1131225..1391668 [NCBI36]
Chr17:17p13.3
pathogenic
NM_016532.3(INPP5K):c.858C>T (p.Pro286=) single nucleotide variant Malignant melanoma [RCV000071343] Chr17:1498041 [GRCh38]
Chr17:1401335 [GRCh37]
Chr17:1348085 [NCBI36]
Chr17:17p13.3
not provided
NM_016532.3(INPP5K):c.857C>T (p.Pro286Leu) single nucleotide variant Malignant melanoma [RCV000071344] Chr17:1498042 [GRCh38]
Chr17:1401336 [GRCh37]
Chr17:1348086 [NCBI36]
Chr17:17p13.3
not provided
NM_016532.3(INPP5K):c.648C>T (p.Gly216=) single nucleotide variant Malignant melanoma [RCV000071345] Chr17:1508133 [GRCh38]
Chr17:1411427 [GRCh37]
Chr17:1358177 [NCBI36]
Chr17:17p13.3
not provided
GRCh38/hg38 17p13.3(chr17:198748-1920952)x1 copy number loss See cases [RCV000133787] Chr17:198748..1920952 [GRCh38]
Chr17:50690..1824246 [GRCh37]
Chr17:48539..1770996 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3 copy number gain See cases [RCV000135342] Chr17:1209808..1931101 [GRCh38]
Chr17:1113102..1834395 [GRCh37]
Chr17:1059852..1781145 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3(chr17:198748-2685361)x1 copy number loss See cases [RCV000134971] Chr17:198748..2685361 [GRCh38]
Chr17:50690..2588655 [GRCh37]
Chr17:48539..2535405 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 copy number loss See cases [RCV000135857] Chr17:226472..3655099 [GRCh38]
Chr17:396627..3558393 [GRCh37]
Chr17:76263..3505142 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:847955-1641601)x3 copy number gain See cases [RCV000135574] Chr17:847955..1641601 [GRCh38]
Chr17:751195..1544895 [GRCh37]
Chr17:697945..1491645 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3 copy number gain See cases [RCV000136639] Chr17:1227482..2261786 [GRCh38]
Chr17:1130776..2165080 [GRCh37]
Chr17:1077526..2111830 [NCBI36]
Chr17:17p13.3
likely pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3 copy number gain See cases [RCV000137603] Chr17:1348488..3513273 [GRCh38]
Chr17:1251782..3416567 [GRCh37]
Chr17:1198532..3363317 [NCBI36]
Chr17:17p13.3-13.2
likely pathogenic
GRCh38/hg38 17p13.3(chr17:162016-1682817)x3 copy number gain See cases [RCV000138202] Chr17:162016..1682817 [GRCh38]
Chr17:45835..1586111 [GRCh37]
Chr17:11807..1532861 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3(chr17:162016-1904358)x1 copy number loss See cases [RCV000137940] Chr17:162016..1904358 [GRCh38]
Chr17:45835..1807652 [GRCh37]
Chr17:11807..1754402 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3(chr17:1393938-1624152)x3 copy number gain See cases [RCV000137785] Chr17:1393938..1624152 [GRCh38]
Chr17:1297232..1527446 [GRCh37]
Chr17:1243982..1474196 [NCBI36]
Chr17:17p13.3
uncertain significance
GRCh38/hg38 17p13.3(chr17:1311837-1530439)x3 copy number gain See cases [RCV000138235] Chr17:1311837..1530439 [GRCh38]
Chr17:1215131..1433733 [GRCh37]
Chr17:1161881..1380483 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3(chr17:162016-2099130)x1 copy number loss See cases [RCV000138246] Chr17:162016..2099130 [GRCh38]
Chr17:45835..2002424 [GRCh37]
Chr17:11807..1949174 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1 copy number loss See cases [RCV000138512] Chr17:1227392..2261993 [GRCh38]
Chr17:1130686..2165287 [GRCh37]
Chr17:1077436..2112037 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3(chr17:1119701-1561544)x3 copy number gain See cases [RCV000141125] Chr17:1119701..1561544 [GRCh38]
Chr17:1022906..1464838 [GRCh37]
Chr17:969656..1411588 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3(chr17:1373829-1525806)x1 copy number loss See cases [RCV000140926] Chr17:1373829..1525806 [GRCh38]
Chr17:1277123..1429100 [GRCh37]
Chr17:1223873..1375850 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3(chr17:150732-3242868)x1 copy number loss See cases [RCV000142323] Chr17:150732..3242868 [GRCh38]
Chr17:525..3146162 [GRCh37]
Chr17:525..3092912 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3(chr17:1113825-1641612)x3 copy number gain See cases [RCV000142896] Chr17:1113825..1641612 [GRCh38]
Chr17:1017065..1544906 [GRCh37]
Chr17:963815..1491656 [NCBI36]
Chr17:17p13.3
pathogenic
GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1 copy number loss See cases [RCV000143179] Chr17:1227482..2082382 [GRCh38]
Chr17:1130776..1985676 [GRCh37]
Chr17:1077526..1932426 [NCBI36]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:1145504-1445005)x3 copy number gain See cases [RCV000240008] Chr17:1145504..1445005 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1409783-1857577)x1 copy number loss See cases [RCV000240323] Chr17:1409783..1857577 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1 copy number loss See cases [RCV000240453] Chr17:1218064..2619473 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:961016-1641881)x3 copy number gain See cases [RCV000240386] Chr17:961016..1641881 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:722145-1875784)x1 copy number loss not provided [RCV001270662] Chr17:722145..1875784 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:900530-1747271)x3 copy number gain See cases [RCV000449383] Chr17:900530..1747271 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:48858-2940028)x1 copy number loss See cases [RCV000449220] Chr17:48858..2940028 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:874171-2306440)x3 copy number gain See cases [RCV000447467] Chr17:874171..2306440 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2518160)x1 copy number loss See cases [RCV000446045] Chr17:525..2518160 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1114083-1784979)x1 copy number loss See cases [RCV000446754] Chr17:1114083..1784979 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1
pathogenic
GRCh37/hg19 17p13.3(chr17:525-1874153)x3 copy number gain See cases [RCV000445687] Chr17:525..1874153 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2092064)x1 copy number loss See cases [RCV000445813] Chr17:525..2092064 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1 copy number loss See cases [RCV000448506] Chr17:48858..3379400 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:1277162-1505103)x1 copy number loss See cases [RCV000448800] Chr17:1277162..1505103 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2891302)x1 copy number loss See cases [RCV000447687] Chr17:525..2891302 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1061434-1515760)x3 copy number gain See cases [RCV000448730] Chr17:1061434..1515760 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:6160-2002365) copy number gain See cases [RCV000448685] Chr17:6160..2002365 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2363548)x1 copy number loss See cases [RCV000448774] Chr17:525..2363548 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.1251_1252del (p.Asn417fs) deletion Congenital muscular dystrophy with cataracts and intellectual disability [RCV000477707] Chr17:1496098..1496099 [GRCh38]
Chr17:1399392..1399393 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.899A>G (p.Tyr300Cys) single nucleotide variant Congenital muscular dystrophy with cataracts and intellectual disability [RCV000477672] Chr17:1498000 [GRCh38]
Chr17:1401294 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.805G>A (p.Asp269Asn) single nucleotide variant Congenital muscular dystrophy with cataracts and intellectual disability [RCV000477679] Chr17:1498094 [GRCh38]
Chr17:1401388 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.277A>G (p.Met93Val) single nucleotide variant Congenital muscular dystrophy with cataracts and intellectual disability [RCV000477699] Chr17:1509784 [GRCh38]
Chr17:1413078 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.149T>C (p.Ile50Thr) single nucleotide variant Congenital muscular dystrophy with cataracts and intellectual disability [RCV000477718] Chr17:1513875 [GRCh38]
Chr17:1417169 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.418G>A (p.Gly140Ser) single nucleotide variant Congenital muscular dystrophy with cataracts and intellectual disability [RCV000477730] Chr17:1509314 [GRCh38]
Chr17:1412608 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.67G>A (p.Val23Met) single nucleotide variant Congenital muscular dystrophy with cataracts and intellectual disability [RCV000477733] Chr17:1513957 [GRCh38]
Chr17:1417251 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2750745)x1 copy number loss See cases [RCV000510381] Chr17:525..2750745 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:800049-2390454)x1 copy number loss See cases [RCV000510317] Chr17:800049..2390454 [GRCh37]
Chr17:17p13.3
pathogenic
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
GRCh37/hg19 17p13.3(chr17:1263628-1483869)x1 copy number loss See cases [RCV000511882] Chr17:1263628..1483869 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:525-1968434)x1 copy number loss See cases [RCV000511558] Chr17:525..1968434 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:936458-1647108)x3 copy number gain See cases [RCV000511662] Chr17:936458..1647108 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:10622-1511353)x1 copy number loss See cases [RCV000512031] Chr17:10622..1511353 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:936458-1483192)x3 copy number gain See cases [RCV000511468] Chr17:936458..1483192 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3(chr17:808735-1850373)x3 copy number gain See cases [RCV000511145] Chr17:808735..1850373 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:525-2264023)x1 copy number loss See cases [RCV000512467] Chr17:525..2264023 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1361431-2573023) copy number loss Lissencephaly [RCV000626514] Chr17:1361431..2573023 [GRCh37]
Chr17:17p13.3
pathogenic
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
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3(chr17:1180644-1826928)x3 copy number gain not provided [RCV000683874] Chr17:1180644..1826928 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.554+16del deletion Congenital muscular dystrophy with cataracts and intellectual disability [RCV001544214]|not provided [RCV001694078] Chr17:1509162 [GRCh38]
Chr17:1412456 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.-60G>T single nucleotide variant Congenital muscular dystrophy with cataracts and intellectual disability [RCV001544215] Chr17:1516559 [GRCh38]
Chr17:1419853 [GRCh37]
Chr17:17p13.3
benign
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 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(chr17:1-2538512)x4,5 copy number gain Partial agenesis of the corpus callosum [RCV000754117] Chr17:1..2538512 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:1068393-1560055)x3 copy number gain not provided [RCV000739363] Chr17:1068393..1560055 [GRCh37]
Chr17:17p13.3
likely pathogenic
GRCh37/hg19 17p13.3(chr17:1233239-1560055)x3 copy number gain not provided [RCV000739364] Chr17:1233239..1560055 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:1371393-1436576)x3 copy number gain not provided [RCV000739365] Chr17:1371393..1436576 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:1377943-1444702)x3 copy number gain not provided [RCV000739366] Chr17:1377943..1444702 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.1185+9C>G single nucleotide variant not provided [RCV000924750] Chr17:1496310 [GRCh38]
Chr17:1399604 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.927C>T (p.Ser309=) single nucleotide variant not provided [RCV000972321] Chr17:1497972 [GRCh38]
Chr17:1401266 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.213G>A (p.Ser71=) single nucleotide variant not provided [RCV000901724] Chr17:1513501 [GRCh38]
Chr17:1416795 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.600T>C (p.Phe200=) single nucleotide variant not provided [RCV000972911] Chr17:1508181 [GRCh38]
Chr17:1411475 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.1077G>A (p.Pro359=) single nucleotide variant not provided [RCV000881772] Chr17:1496690 [GRCh38]
Chr17:1399984 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.732G>C (p.Pro244=) single nucleotide variant not provided [RCV000905244] Chr17:1507024 [GRCh38]
Chr17:1410318 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.856C>G (p.Pro286Ala) single nucleotide variant not provided [RCV000901964] Chr17:1498043 [GRCh38]
Chr17:1401337 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.915G>A (p.Thr305=) single nucleotide variant not provided [RCV000925454] Chr17:1497984 [GRCh38]
Chr17:1401278 [GRCh37]
Chr17:17p13.3
likely benign
GRCh37/hg19 17p13.3(chr17:525-2221159)x1 copy number loss not provided [RCV001006848] Chr17:525..2221159 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_016532.4(INPP5K):c.169T>G (p.Ser57Ala) single nucleotide variant not provided [RCV000922618] Chr17:1513545 [GRCh38]
Chr17:1416839 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.1152C>T (p.Asp384=) single nucleotide variant not provided [RCV000921613] Chr17:1496352 [GRCh38]
Chr17:1399646 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.1101+8G>C single nucleotide variant not provided [RCV000921527] Chr17:1496658 [GRCh38]
Chr17:1399952 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.643G>C (p.Gly215Arg) single nucleotide variant not provided [RCV000961449] Chr17:1508138 [GRCh38]
Chr17:1411432 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.914C>T (p.Thr305Met) single nucleotide variant not provided [RCV000974290] Chr17:1497985 [GRCh38]
Chr17:1401279 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.930C>T (p.Asp310=) single nucleotide variant not provided [RCV000936366] Chr17:1497969 [GRCh38]
Chr17:1401263 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.1176C>T (p.Asn392=) single nucleotide variant not provided [RCV000959335] Chr17:1496328 [GRCh38]
Chr17:1399622 [GRCh37]
Chr17:17p13.3
benign
GRCh37/hg19 17p13.3(chr17:1009449-1722313)x3 copy number gain not provided [RCV001007487] Chr17:1009449..1722313 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.964-8G>A single nucleotide variant not provided [RCV000917816] Chr17:1496811 [GRCh38]
Chr17:1400105 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.732G>A (p.Pro244=) single nucleotide variant not provided [RCV000917817] Chr17:1507024 [GRCh38]
Chr17:1410318 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.855T>G (p.Thr285=) single nucleotide variant not provided [RCV000895819] Chr17:1498044 [GRCh38]
Chr17:1401338 [GRCh37]
Chr17:17p13.3
likely benign
GRCh37/hg19 17p13.3(chr17:1334510-1550848)x3 copy number gain not provided [RCV000848248] Chr17:1334510..1550848 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3(chr17:882559-1401416)x1 copy number loss not provided [RCV000996629] Chr17:882559..1401416 [GRCh37]
Chr17:17p13.3
likely pathogenic
NM_016532.4(INPP5K):c.51C>T (p.His17=) single nucleotide variant not provided [RCV000887232] Chr17:1513973 [GRCh38]
Chr17:1417267 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.864G>A (p.Pro288=) single nucleotide variant not provided [RCV000933210] Chr17:1498035 [GRCh38]
Chr17:1401329 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.1269G>A (p.Val423=) single nucleotide variant not provided [RCV000980293] Chr17:1496081 [GRCh38]
Chr17:1399375 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.207T>C (p.Asn69=) single nucleotide variant not provided [RCV000927981] Chr17:1513507 [GRCh38]
Chr17:1416801 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.1215C>T (p.Thr405=) single nucleotide variant not provided [RCV000955268] Chr17:1496135 [GRCh38]
Chr17:1399429 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.866C>T (p.Pro289Leu) single nucleotide variant not provided [RCV000959336] Chr17:1498033 [GRCh38]
Chr17:1401327 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.427G>A (p.Val143Ile) single nucleotide variant not provided [RCV000903803] Chr17:1509305 [GRCh38]
Chr17:1412599 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.119A>G (p.Asn40Ser) single nucleotide variant Congenital muscular dystrophy with cataracts and intellectual disability [RCV001336353]|not provided [RCV000888427] Chr17:1513905 [GRCh38]
Chr17:1417199 [GRCh37]
Chr17:17p13.3
likely benign|uncertain significance
NM_016532.4(INPP5K):c.693G>A (p.Pro231=) single nucleotide variant not provided [RCV000971231] Chr17:1507063 [GRCh38]
Chr17:1410357 [GRCh37]
Chr17:17p13.3
benign|likely benign
NM_016532.4(INPP5K):c.903C>T (p.Ser301=) single nucleotide variant not provided [RCV000977867] Chr17:1497996 [GRCh38]
Chr17:1401290 [GRCh37]
Chr17:17p13.3
likely benign
GRCh38/hg38 17p13.3(chr17:1192285-1641601)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV001199953] Chr17:1192285..1641601 [GRCh38]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.152+8T>A single nucleotide variant not provided [RCV000889482] Chr17:1513864 [GRCh38]
Chr17:1417158 [GRCh37]
Chr17:17p13.3
benign
NM_016532.4(INPP5K):c.735C>T (p.Pro245=) single nucleotide variant not provided [RCV000957426] Chr17:1507021 [GRCh38]
Chr17:1410315 [GRCh37]
Chr17:17p13.3
likely benign
NM_016532.4(INPP5K):c.1140C>T (p.Ala380=) single nucleotide variant not provided [RCV000891413] Chr17:1496364 [GRCh38]
Chr17:1399658 [GRCh37]
Chr17:17p13.3
benign|likely benign
GRCh37/hg19 17p13.3(chr17:1204863-1751418)x3 copy number gain not provided [RCV001007489] Chr17:1204863..1751418 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:84287-2468384)x1 copy number loss Distal 17p13.3 microdeletion syndrome [RCV001263217] Chr17:84287..2468384 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1310685-1690452)x3 copy number gain not provided [RCV001007491] Chr17:1310685..1690452 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV001199954] Chr17:1113701..1844036 [GRCh38]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:998888-1457526)x3 copy number gain not provided [RCV001259322] Chr17:998888..1457526 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:525-1450120)x1 copy number loss not provided [RCV001259323] Chr17:525..1450120 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.302T>C (p.Phe101Ser) single nucleotide variant Congenital muscular dystrophy with cataracts and intellectual disability [RCV001330943] Chr17:1509759 [GRCh38]
Chr17:1413053 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_016532.4(INPP5K):c.279G>A (p.Met93Ile) single nucleotide variant not provided [RCV001754917] Chr17:1509782 [GRCh38]
Chr17:1413076 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_016532.4(INPP5K):c.569T>A (p.Phe190Tyr) single nucleotide variant not provided [RCV001760971] Chr17:1508212 [GRCh38]
Chr17:1411506 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:1145231-1499243)x1 copy number loss not provided [RCV001795837] Chr17:1145231..1499243 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.1142G>C (p.Trp381Ser) single nucleotide variant not provided [RCV001766904] Chr17:1496362 [GRCh38]
Chr17:1399656 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:1193547-1403538)x3 copy number gain not provided [RCV001832983] Chr17:1193547..1403538 [GRCh37]
Chr17:17p13.3
pathogenic
NM_016532.4(INPP5K):c.419G>A (p.Gly140Asp) single nucleotide variant Congenital muscular dystrophy with cataracts and intellectual disability [RCV001808914] Chr17:1509313 [GRCh38]
Chr17:1412607 [GRCh37]
Chr17:17p13.3
uncertain significance
NM_016532.4(INPP5K):c.793C>T (p.Pro265Ser) single nucleotide variant Congenital muscular dystrophy with cataracts and intellectual disability [RCV001808213] Chr17:1498106 [GRCh38]
Chr17:1401400 [GRCh37]
Chr17:17p13.3
uncertain significance
GRCh37/hg19 17p13.3(chr17:1176459-1570012)x3 copy number gain not provided [RCV001827746] Chr17:1176459..1570012 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:858365-1690452)x3 copy number gain not provided [RCV001832935] Chr17:858365..1690452 [GRCh37]
Chr17:17p13.3
pathogenic
GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV001825202] Chr17:1041555..1576875 [GRCh37]
Chr17:17p13.3
not provided
NC_000017.10:g.(?_725577)_(1680740_?)dup duplication not provided [RCV001911524] Chr17:725577..1680740 [GRCh37]
Chr17:17p13.3
uncertain significance
NC_000017.10:g.(?_1173858)_(3819519_?)dup duplication not provided [RCV002014058] Chr17:1173858..3819519 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
NM_016532.4(INPP5K):c.881_883del (p.Ser294del) deletion See cases [RCV002253085] Chr17:1498016..1498018 [GRCh38]
Chr17:1401310..1401312 [GRCh37]
Chr17:17p13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33882 AgrOrtholog
COSMIC INPP5K COSMIC
Ensembl Genes ENSG00000132376 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000254712.5 UniProtKB/TrEMBL
  ENSP00000318476 ENTREZGENE
  ENSP00000318476.6 UniProtKB/Swiss-Prot
  ENSP00000385177 ENTREZGENE
  ENSP00000385177.4 UniProtKB/Swiss-Prot
  ENSP00000389334.2 UniProtKB/TrEMBL
  ENSP00000413259.1 UniProtKB/TrEMBL
  ENSP00000413937 ENTREZGENE
  ENSP00000413937.2 UniProtKB/Swiss-Prot
  ENSP00000458413.1 UniProtKB/TrEMBL
  ENSP00000459029.1 UniProtKB/TrEMBL
  ENSP00000459758.1 UniProtKB/TrEMBL
  ENSP00000461105.1 UniProtKB/TrEMBL
  ENSP00000461846.1 UniProtKB/TrEMBL
  ENSP00000466632.2 UniProtKB/TrEMBL
  ENSP00000466929.1 UniProtKB/TrEMBL
  ENSP00000467376.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000320345 ENTREZGENE
  ENST00000320345.10 UniProtKB/Swiss-Prot
  ENST00000350761.9 UniProtKB/TrEMBL
  ENST00000406424 ENTREZGENE
  ENST00000406424.8 UniProtKB/Swiss-Prot
  ENST00000421807 ENTREZGENE
  ENST00000421807.7 UniProtKB/Swiss-Prot
  ENST00000445774.2 UniProtKB/TrEMBL
  ENST00000449479.5 UniProtKB/TrEMBL
  ENST00000477910.5 UniProtKB/TrEMBL
  ENST00000498390.5 UniProtKB/TrEMBL
  ENST00000571274.5 UniProtKB/TrEMBL
  ENST00000573790.5 UniProtKB/TrEMBL
  ENST00000574561.1 UniProtKB/TrEMBL
  ENST00000574955.1 UniProtKB/TrEMBL
  ENST00000575172.5 UniProtKB/TrEMBL
  ENST00000576646.7 UniProtKB/TrEMBL
Gene3D-CATH 3.60.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000132376 GTEx
HGNC ID HGNC:33882 ENTREZGENE
Human Proteome Map INPP5K Human Proteome Map
InterPro Endo/exonu/phosph_ase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Endo/exonuclease/phosphatase UniProtKB/Swiss-Prot
  IPPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKICH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51763 UniProtKB/Swiss-Prot
NCBI Gene 51763 ENTREZGENE
OMIM 607875 OMIM
  617404 OMIM
Pfam Exo_endo_phos UniProtKB/Swiss-Prot
  SKICH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164720951 PharmGKB
SMART IPPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Exo_endo_phos UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z4V9 ENTREZGENE, UniProtKB/TrEMBL
  C9JQW8_HUMAN UniProtKB/TrEMBL
  C9JZB0_HUMAN UniProtKB/TrEMBL
  I3L0Y0_HUMAN UniProtKB/TrEMBL
  I3L1R1_HUMAN UniProtKB/TrEMBL
  I3L2L1_HUMAN UniProtKB/TrEMBL
  I3L4A5_HUMAN UniProtKB/TrEMBL
  I3NI31_HUMAN UniProtKB/TrEMBL
  INP5K_HUMAN UniProtKB/Swiss-Prot
  J3KN07_HUMAN UniProtKB/TrEMBL
  K7EMS8_HUMAN UniProtKB/TrEMBL
  K7ENF7_HUMAN UniProtKB/TrEMBL
  K7EPG6_HUMAN UniProtKB/TrEMBL
  Q9BT40 ENTREZGENE
  Q9P2R5 ENTREZGENE
UniProt Secondary B2R6I2 UniProtKB/Swiss-Prot
  B2R750 UniProtKB/Swiss-Prot
  D3DTH8 UniProtKB/Swiss-Prot
  Q15733 UniProtKB/Swiss-Prot
  Q9NPJ5 UniProtKB/Swiss-Prot
  Q9P2R5 UniProtKB/Swiss-Prot