PSKH1 (protein serine kinase H1) - Rat Genome Database

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Gene: PSKH1 (protein serine kinase H1) Homo sapiens
Analyze
Symbol: PSKH1
Name: protein serine kinase H1
RGD ID: 1312210
HGNC Page HGNC:9529
Description: Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to act upstream of or within determination of left/right symmetry and heart development. Located in cytosol and nuclear speck.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: PSK-H1; serine/threonine-protein kinase H1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC020728.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381667,893,254 - 67,929,676 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1667,893,254 - 67,929,676 (+)EnsemblGRCh38hg38GRCh38
GRCh371667,927,157 - 67,963,579 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,484,716 - 66,521,082 (+)NCBINCBI36Build 36hg18NCBI36
Build 341666,484,715 - 66,521,081NCBI
Celera1652,435,604 - 52,472,038 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1653,800,311 - 53,837,151 (+)NCBIHuRef
CHM1_11669,335,357 - 69,371,760 (+)NCBICHM1_1
T2T-CHM13v2.01673,689,027 - 73,725,450 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2948189   PMID:8268911   PMID:9889196   PMID:11058107   PMID:11087665   PMID:12466556   PMID:12477932   PMID:14644153   PMID:15123239   PMID:15489334   PMID:16344560   PMID:20686565  
PMID:21988832   PMID:22658674   PMID:22939624   PMID:24097068   PMID:24447338   PMID:25056061   PMID:28514442   PMID:32053275   PMID:32707033   PMID:33961781   PMID:35906200   PMID:36629882  
PMID:36724073  


Genomics

Comparative Map Data
PSKH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381667,893,254 - 67,929,676 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1667,893,254 - 67,929,676 (+)EnsemblGRCh38hg38GRCh38
GRCh371667,927,157 - 67,963,579 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,484,716 - 66,521,082 (+)NCBINCBI36Build 36hg18NCBI36
Build 341666,484,715 - 66,521,081NCBI
Celera1652,435,604 - 52,472,038 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1653,800,311 - 53,837,151 (+)NCBIHuRef
CHM1_11669,335,357 - 69,371,760 (+)NCBICHM1_1
T2T-CHM13v2.01673,689,027 - 73,725,450 (+)NCBIT2T-CHM13v2.0
Pskh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398106,627,106 - 106,658,434 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8106,627,073 - 106,658,410 (+)EnsemblGRCm39 Ensembl
GRCm388105,900,474 - 105,931,802 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8105,900,441 - 105,931,778 (+)EnsemblGRCm38mm10GRCm38
MGSCv378108,424,374 - 108,455,702 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368108,789,603 - 108,820,931 (+)NCBIMGSCv36mm8
Celera8110,128,235 - 110,159,850 (+)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.06NCBI
Pskh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81950,704,780 - 50,736,890 (+)NCBIGRCr8
mRatBN7.21933,794,919 - 33,827,040 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1933,794,935 - 33,827,032 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1940,610,462 - 40,642,576 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01941,263,777 - 41,295,891 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01943,562,099 - 43,594,336 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01937,873,515 - 37,905,625 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1937,873,515 - 37,905,625 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01948,740,283 - 48,772,656 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41935,740,162 - 35,773,792 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11935,745,055 - 35,778,671 (+)NCBI
Celera1933,222,478 - 33,254,589 (+)NCBICelera
Cytogenetic Map19q12NCBI
Pskh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554848,784,128 - 8,814,475 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554848,784,128 - 8,813,669 (-)NCBIChiLan1.0ChiLan1.0
PSKH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21877,420,167 - 77,456,358 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11683,331,599 - 83,367,786 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01648,234,877 - 48,271,069 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11667,637,855 - 67,658,256 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1667,637,855 - 67,658,256 (+)Ensemblpanpan1.1panPan2
PSKH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1581,567,665 - 81,596,382 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl581,569,624 - 81,584,477 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha581,557,650 - 81,586,326 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0582,002,991 - 82,031,730 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl582,002,990 - 82,031,694 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1581,829,200 - 81,857,930 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0581,511,330 - 81,539,994 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0582,153,549 - 82,182,229 (-)NCBIUU_Cfam_GSD_1.0
Pskh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934941,303,151 - 41,324,154 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647518,264,978 - 18,284,407 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647518,264,975 - 18,284,407 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PSKH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl628,508,823 - 28,544,062 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1628,508,785 - 28,544,063 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PSKH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1559,510,587 - 59,543,560 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl559,512,617 - 59,543,497 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604722,235,933 - 22,269,413 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pskh1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474618,450,195 - 18,468,080 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474618,450,197 - 18,485,102 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PSKH1
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1 copy number loss See cases [RCV000053335] Chr16:64311275..68062011 [GRCh38]
Chr16:64345179..68095914 [GRCh37]
Chr16:62902680..66653415 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1 copy number loss See cases [RCV000449234] Chr16:67654566..68404073 [GRCh37]
Chr16:16q22.1		 likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_006742.3(PSKH1):c.100G>A (p.Val34Met) single nucleotide variant Inborn genetic diseases [RCV003244844] Chr16:67908849 [GRCh38]
Chr16:67942752 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q22.1(chr16:67132790-68166320) copy number loss not provided [RCV000767617] Chr16:67132790..68166320 [GRCh37]
Chr16:16q22.1		 pathogenic
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1		 pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_006742.3(PSKH1):c.1219C>T (p.Arg407Trp) single nucleotide variant Inborn genetic diseases [RCV003242676] Chr16:67927586 [GRCh38]
Chr16:67961489 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q22.1(chr16:67765964-68246270)x1 copy number loss not provided [RCV001259860] Chr16:67765964..68246270 [GRCh37]
Chr16:16q22.1		 uncertain significance
NC_000016.9:g.(?_66545871)_(72146396_?)dup duplication Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] Chr16:66545871..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_65821800)_(72146396_?)del deletion Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] Chr16:65821800..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
NM_006742.3(PSKH1):c.902A>G (p.Asn301Ser) single nucleotide variant Inborn genetic diseases [RCV002734322] Chr16:67909651 [GRCh38]
Chr16:67943554 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.736C>G (p.Arg246Gly) single nucleotide variant Inborn genetic diseases [RCV002777356] Chr16:67909485 [GRCh38]
Chr16:67943388 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.943A>G (p.Ser315Gly) single nucleotide variant Inborn genetic diseases [RCV002682322] Chr16:67909692 [GRCh38]
Chr16:67943595 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.190G>A (p.Gly64Ser) single nucleotide variant Inborn genetic diseases [RCV002968345] Chr16:67908939 [GRCh38]
Chr16:67942842 [GRCh37]
Chr16:16q22.1		 likely benign
NM_006742.3(PSKH1):c.911G>A (p.Arg304Gln) single nucleotide variant Inborn genetic diseases [RCV002707867] Chr16:67909660 [GRCh38]
Chr16:67943563 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.173A>G (p.Tyr58Cys) single nucleotide variant Inborn genetic diseases [RCV002998147] Chr16:67908922 [GRCh38]
Chr16:67942825 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.46G>A (p.Val16Ile) single nucleotide variant Inborn genetic diseases [RCV002985985] Chr16:67908795 [GRCh38]
Chr16:67942698 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.1213C>T (p.Arg405Cys) single nucleotide variant Inborn genetic diseases [RCV002874035] Chr16:67927580 [GRCh38]
Chr16:67961483 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.41A>G (p.Lys14Arg) single nucleotide variant Inborn genetic diseases [RCV002744630] Chr16:67908790 [GRCh38]
Chr16:67942693 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.1225C>T (p.Arg409Trp) single nucleotide variant Inborn genetic diseases [RCV003008618] Chr16:67927592 [GRCh38]
Chr16:67961495 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.920G>A (p.Arg307Gln) single nucleotide variant Inborn genetic diseases [RCV002674328] Chr16:67909669 [GRCh38]
Chr16:67943572 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.194C>T (p.Pro65Leu) single nucleotide variant Inborn genetic diseases [RCV002832014] Chr16:67908943 [GRCh38]
Chr16:67942846 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.235C>T (p.Arg79Cys) single nucleotide variant Inborn genetic diseases [RCV003282595] Chr16:67908984 [GRCh38]
Chr16:67942887 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.811C>T (p.Arg271Cys) single nucleotide variant Inborn genetic diseases [RCV003214836] Chr16:67909560 [GRCh38]
Chr16:67943463 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.931A>G (p.Arg311Gly) single nucleotide variant Inborn genetic diseases [RCV003185760] Chr16:67909680 [GRCh38]
Chr16:67943583 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.21G>C (p.Lys7Asn) single nucleotide variant Inborn genetic diseases [RCV003357358] Chr16:67908770 [GRCh38]
Chr16:67942673 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.1235G>A (p.Arg412Gln) single nucleotide variant Inborn genetic diseases [RCV003351490] Chr16:67927602 [GRCh38]
Chr16:67961505 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3 copy number gain not provided [RCV003485117] Chr16:67498380..68754276 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_006742.3(PSKH1):c.573C>T (p.Thr191=) single nucleotide variant not provided [RCV003411374] Chr16:67909322 [GRCh38]
Chr16:67943225 [GRCh37]
Chr16:16q22.1		 likely benign
GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3 copy number gain not specified [RCV003987175] Chr16:67583728..69977397 [GRCh37]
Chr16:16q22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1384
Count of miRNA genes:706
Interacting mature miRNAs:794
Transcripts:ENST00000291041, ENST00000570631, ENST00000575198
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
PSKH1_8573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,962,765 - 67,963,687UniSTSGRCh37
Build 361666,520,266 - 66,521,188RGDNCBI36
Celera1652,471,222 - 52,472,144RGD
HuRef1653,836,335 - 53,837,257UniSTS
CTRL_8289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,963,329 - 67,963,895UniSTSGRCh37
Build 361666,520,830 - 66,521,396RGDNCBI36
Celera1652,471,786 - 52,472,352RGD
HuRef1653,836,899 - 53,837,465UniSTS
SHGC-63628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,963,886 - 67,963,976UniSTSGRCh37
Build 361666,521,387 - 66,521,477RGDNCBI36
Celera1652,472,343 - 52,472,433RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,837,456 - 53,837,546UniSTS
TNG Radiation Hybrid Map1629247.0UniSTS
RH70891  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,949,269 - 67,949,462UniSTSGRCh37
Build 361666,506,770 - 66,506,963RGDNCBI36
Celera1652,457,726 - 52,457,919RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,822,876 - 53,823,069UniSTS
GeneMap99-GB4 RH Map16405.05UniSTS
NCBI RH Map16508.6UniSTS
D16S2961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,963,480 - 67,963,804UniSTSGRCh37
Build 361666,520,981 - 66,521,305RGDNCBI36
Celera1652,471,937 - 52,472,261RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,837,050 - 53,837,374UniSTS
GeneMap99-GB4 RH Map16404.61UniSTS
Whitehead-RH Map16304.7UniSTS
NCBI RH Map16508.6UniSTS


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 2409 2032 1468 377 1388 224 3432 1182 1666 392 1419 1545 169 1 1130 2012 5 2
Low 30 959 258 247 563 241 925 1015 2068 27 41 68 6 74 776 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000291041   ⟹   ENSP00000291041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,893,254 - 67,929,676 (+)Ensembl
RefSeq Acc Id: ENST00000570631   ⟹   ENSP00000482880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,893,272 - 67,910,088 (+)Ensembl
RefSeq Acc Id: ENST00000575198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,893,301 - 67,903,145 (+)Ensembl
RefSeq Acc Id: NM_006742   ⟹   NP_006733
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,893,254 - 67,929,676 (+)NCBI
GRCh371667,927,175 - 67,963,581 (+)RGD
Build 361666,484,716 - 66,521,082 (+)NCBI Archive
Celera1652,435,604 - 52,472,038 (+)RGD
HuRef1653,800,311 - 53,837,151 (+)RGD
CHM1_11669,335,357 - 69,371,760 (+)NCBI
T2T-CHM13v2.01673,689,027 - 73,725,450 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_006733 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36519 (Get FASTA)   NCBI Sequence Viewer  
  AAH62616 (Get FASTA)   NCBI Sequence Viewer  
  CAB91984 (Get FASTA)   NCBI Sequence Viewer  
  EAW83185 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000291041
  ENSP00000291041.4
  ENSP00000482880.1
GenBank Protein P11801 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_006733   ⟸   NM_006742
- UniProtKB: Q9NY19 (UniProtKB/Swiss-Prot),   P11801 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000291041   ⟸   ENST00000291041
RefSeq Acc Id: ENSP00000482880   ⟸   ENST00000570631
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11801-F1-model_v2 AlphaFold P11801 1-424 view protein structure

Promoters
RGD ID:6793398
Promoter ID:HG_KWN:24062
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006742,   UC010CET.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,484,366 - 66,485,022 (+)MPROMDB
RGD ID:7232593
Promoter ID:EPDNEW_H22042
Type:multiple initiation site
Name:PSKH1_1
Description:protein serine kinase H1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22043  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,893,254 - 67,893,314EPDNEW
RGD ID:7232595
Promoter ID:EPDNEW_H22043
Type:initiation region
Name:PSKH1_2
Description:protein serine kinase H1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22042  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,904,800 - 67,904,860EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9529 AgrOrtholog
COSMIC PSKH1 COSMIC
Ensembl Genes ENSG00000159792 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000291041 ENTREZGENE
  ENST00000291041.6 UniProtKB/Swiss-Prot
  ENST00000570631.5 UniProtKB/TrEMBL
Gene3D-CATH Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000159792 GTEx
HGNC ID HGNC:9529 ENTREZGENE
Human Proteome Map PSKH1 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5681 UniProtKB/Swiss-Prot
NCBI Gene 5681 ENTREZGENE
OMIM 177015 OMIM
PANTHER SERINE/THREONINE-PROTEIN KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN KINASE H1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33874 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZT9_HUMAN UniProtKB/TrEMBL
  KPSH1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9NY19 ENTREZGENE
UniProt Secondary Q9NY19 UniProtKB/Swiss-Prot