TESK1 (testis associated actin remodelling kinase 1) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: TESK1 (testis associated actin remodelling kinase 1) Homo sapiens
Analyze
Symbol: TESK1
Name: testis associated actin remodelling kinase 1
RGD ID: 732889
Description: Predicted to have protein serine/threonine kinase activity. Predicted to be involved in several processes, including actin cytoskeleton organization; negative regulation of protein phosphorylation; and positive regulation of stress fiber assembly. Predicted to colocalize with cytoplasmic vesicle.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dual specificity testis-specific protein kinase 1; testicular protein kinase 1; testis specific protein kinase 1; testis-specific kinase 1
Orthologs:
Mus musculus (house mouse) : Tesk1 (testis specific protein kinase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tesk1 (testis associated actin remodelling kinase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tesk1 (testis associated actin remodelling kinase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : TESK1 (testis associated actin remodelling kinase 1)
Canis lupus familiaris (dog) : TESK1 (testis associated actin remodelling kinase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Tesk1 (testis associated actin remodelling kinase 1)
Sus scrofa (pig) : TESK1 (testis associated actin remodelling kinase 1)
Chlorocebus sabaeus (African green monkey) : TESK1 (testis associated actin remodelling kinase 1)
Heterocephalus glaber (naked mole-rat) : Tesk1 (testis associated actin remodelling kinase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,605,262 - 35,610,041 (+)EnsemblGRCh38hg38GRCh38
GRCh38935,605,262 - 35,610,033 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,605,281 - 35,610,038 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,595,281 - 35,600,038 (+)NCBINCBI36hg18NCBI36
Build 34935,595,366 - 35,600,029NCBI
Celera935,538,842 - 35,543,599 (+)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,561,511 - 35,565,732 (+)NCBIHuRef
CHM1_1935,605,086 - 35,609,864 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:9655398   PMID:10207045   PMID:10512679   PMID:11294912   PMID:11340065   PMID:11418599   PMID:11555644   PMID:12027893   PMID:12477932   PMID:15584898   PMID:15817463   PMID:17974561  
PMID:18216281   PMID:20237496   PMID:21873635   PMID:21988832   PMID:22939624   PMID:25849865   PMID:29396473   PMID:30948266  


Genomics

Comparative Map Data
TESK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl935,605,262 - 35,610,041 (+)EnsemblGRCh38hg38GRCh38
GRCh38935,605,262 - 35,610,033 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37935,605,281 - 35,610,038 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,595,281 - 35,600,038 (+)NCBINCBI36hg18NCBI36
Build 34935,595,366 - 35,600,029NCBI
Celera935,538,842 - 35,543,599 (+)NCBI
Cytogenetic Map9p13.3NCBI
HuRef935,561,511 - 35,565,732 (+)NCBIHuRef
CHM1_1935,605,086 - 35,609,864 (+)NCBICHM1_1
Tesk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,442,277 - 43,448,075 (+)NCBI
GRCm38443,442,277 - 43,448,075 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,441,939 - 43,448,064 (+)EnsemblGRCm38mm10GRCm38
MGSCv37443,455,149 - 43,460,947 (+)NCBIGRCm37mm9NCBIm37
MGSCv36443,463,039 - 43,469,161 (+)NCBImm8
Celera443,475,911 - 43,481,710 (+)NCBICelera
Cytogenetic Map4A5NCBI
Tesk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0558,937,615 - 58,943,358 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl558,937,615 - 58,943,358 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0563,463,575 - 63,469,304 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4559,913,793 - 59,918,422 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1559,913,971 - 59,918,601 (+)NCBI
Celera556,273,675 - 56,279,404 (+)NCBICelera
Cytogenetic Map5q22NCBI
Tesk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955472668,352 - 699,620 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955472670,847 - 676,060 (-)NCBIChiLan1.0ChiLan1.0
TESK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1936,260,165 - 36,264,545 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl936,258,902 - 36,264,545 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0935,456,965 - 35,461,736 (+)NCBIMhudiblu_PPA_v0panPan3
TESK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1152,166,276 - 52,170,309 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11152,166,049 - 52,170,611 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Tesk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365243,615,933 - 3,620,384 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TESK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1236,341,179 - 236,345,962 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11236,341,160 - 236,345,964 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21264,064,388 - 264,070,983 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TESK1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl1244,984,687 - 44,990,183 (-)Ensembl
ChlSab1.11244,985,770 - 44,990,520 (-)NCBI
Tesk1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248685,198,276 - 5,203,376 (-)NCBI

Position Markers
RH26484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,609,783 - 35,609,974UniSTSGRCh37
Build 36935,599,783 - 35,599,974RGDNCBI36
Celera935,543,344 - 35,543,535RGD
Cytogenetic Map9p13UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,565,477 - 35,565,668UniSTS
TESK1__5239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,609,249 - 35,610,114UniSTSGRCh37
Build 36935,599,249 - 35,600,114RGDNCBI36
Celera935,542,810 - 35,543,675RGD
HuRef935,564,943 - 35,565,808UniSTS
CD72_7759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,609,782 - 35,610,298UniSTSGRCh37
Build 36935,599,782 - 35,600,298RGDNCBI36
Celera935,543,343 - 35,543,859RGD
HuRef935,565,476 - 35,565,992UniSTS
D11S4618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,609,990 - 35,610,187UniSTSGRCh37
Build 36935,599,990 - 35,600,187RGDNCBI36
Celera935,543,551 - 35,543,748RGD
Cytogenetic Map9p13UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef935,565,684 - 35,565,881UniSTS
TESK1-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,608,164 - 35,609,031UniSTSGRCh37
Celera935,541,725 - 35,542,592UniSTS
HuRef935,563,858 - 35,564,725UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1483
Count of miRNA genes:730
Interacting mature miRNAs:834
Transcripts:ENST00000336395, ENST00000463897, ENST00000467424, ENST00000480077, ENST00000498522
Prediction methods: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.


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 2424 2375 1491 395 1510 237 4333 2002 3451 389 1436 1597 171 1204 2787 3
Low 8 609 232 227 435 227 22 191 257 29 12 11 1 1
Below cutoff 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001318230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF452589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF479317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF507907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF507908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF507909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF521045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF521046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF521047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF521049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000336395   ⟹   ENSP00000338127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,605,262 - 35,610,033 (+)Ensembl
RefSeq Acc Id: ENST00000463897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,607,225 - 35,608,227 (+)Ensembl
RefSeq Acc Id: ENST00000467424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,606,972 - 35,608,282 (+)Ensembl
RefSeq Acc Id: ENST00000480077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,607,666 - 35,608,435 (+)Ensembl
RefSeq Acc Id: ENST00000498522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,605,491 - 35,610,041 (+)Ensembl
RefSeq Acc Id: ENST00000620767   ⟹   ENSP00000481045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl935,605,305 - 35,610,032 (+)Ensembl
RefSeq Acc Id: NM_001318230   ⟹   NP_001305159
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,605,262 - 35,610,033 (+)NCBI
CHM1_1935,605,086 - 35,609,864 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006285   ⟹   NP_006276
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,605,262 - 35,610,033 (+)NCBI
GRCh37935,605,281 - 35,610,038 (+)RGD
Build 36935,595,281 - 35,600,038 (+)NCBI Archive
Celera935,538,842 - 35,543,599 (+)RGD
HuRef935,561,511 - 35,565,732 (+)ENTREZGENE
CHM1_1935,605,086 - 35,609,864 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006276   ⟸   NM_006285
- Peptide Label: isoform 1
- UniProtKB: Q15569 (UniProtKB/Swiss-Prot),   Q8NFJ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305159   ⟸   NM_001318230
- Peptide Label: isoform 2
- UniProtKB: Q15569 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000481045   ⟸   ENST00000620767
RefSeq Acc Id: ENSP00000338127   ⟸   ENST00000336395
Protein Domains
Protein kinase

Promoters
RGD ID:6808294
Promoter ID:HG_KWN:63079
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006285,   UC003ZWZ.1,   UC010MKS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,594,371 - 35,595,462 (+)MPROMDB
RGD ID:6808293
Promoter ID:HG_KWN:63080
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000052316,   OTTHUMT00000052317,   OTTHUMT00000052318
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,596,046 - 35,598,002 (+)MPROMDB
RGD ID:7215001
Promoter ID:EPDNEW_H13247
Type:initiation region
Name:TESK1_2
Description:testis-specific kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13248  EPDNEW_H13249  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,604,384 - 35,604,444EPDNEW
RGD ID:7215005
Promoter ID:EPDNEW_H13248
Type:initiation region
Name:TESK1_1
Description:testis-specific kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13247  EPDNEW_H13249  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,605,311 - 35,605,371EPDNEW
RGD ID:7215007
Promoter ID:EPDNEW_H13249
Type:initiation region
Name:TESK1_3
Description:testis-specific kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13247  EPDNEW_H13248  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,605,492 - 35,605,552EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_006285.2(TESK1):c.1091C>T (p.Ser364Leu) single nucleotide variant Malignant melanoma [RCV000068651] Chr9:35608952 [GRCh38]
Chr9:35608949 [GRCh37]
Chr9:35598949 [NCBI36]
Chr9:9p13.3
not provided
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NC_000009.11:g.(?_34458984)_(35809462_?)dup duplication Hyperphosphatasia with mental retardation syndrome 2 [RCV000540114] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Distal spinal muscular atrophy, autosomal recessive 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(35809462_?)del deletion Hyperphosphatasia with mental retardation syndrome 2 [RCV000708109] Chr9:34458984..35809462 [GRCh37]
Chr9:9p13.3
pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p13.3(chr9:35605099-35605901)x1 copy number loss not provided [RCV000748382] Chr9:35605099..35605901 [GRCh37]
Chr9:9p13.3
benign
GRCh37/hg19 9p13.3(chr9:35605099-35610055)x1 copy number loss not provided [RCV000748383] Chr9:35605099..35610055 [GRCh37]
Chr9:9p13.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11731 AgrOrtholog
COSMIC TESK1 COSMIC
Ensembl Genes ENSG00000107140 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000338127 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481045 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000336395 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000498522 ENTREZGENE
  ENST00000620767 UniProtKB/Swiss-Prot
GTEx ENSG00000107140 GTEx
HGNC ID HGNC:11731 ENTREZGENE
Human Proteome Map TESK1 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
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TESK1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7016 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7016 ENTREZGENE
OMIM 601782 OMIM
PANTHER PTHR46485:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36448 PharmGKB, RGD
PRINTS TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.708096 ENTREZGENE
UniProt Q15569 ENTREZGENE
  Q8NFJ4 ENTREZGENE, UniProtKB/TrEMBL
  TESK1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8IXZ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-03-13 TESK1  testis associated actin remodelling kinase 1    testis-specific kinase 1  Symbol and/or name change 5135510 APPROVED
2011-09-01 TESK1  testis-specific kinase 1  TESK1  testis-specific kinase 1  Symbol and/or name change 5135510 APPROVED