TSSK1B (testis specific serine kinase 1B)

Gene: TSSK1B (testis specific serine kinase 1B) Homo sapiens

Analyze

Symbol:

TSSK1B

Name:

testis specific serine kinase 1B

RGD ID:

1605025

HGNC Page

HGNC:14968

Description:

Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Predicted to be involved in spermatid development. Predicted to be located in motile cilium.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FKSG81; serine/threonine kinase 22D (spermiogenesis associated); serine/threonine kinase FKSG81; serine/threonine-protein kinase 22A; spermiogenesis associated 4; SPOGA4; STK22D; testis tissue sperm-binding protein Li 55e; testis-specific kinase 1; testis-specific serine kinase 1; testis-specific serine kinase 1B; testis-specific serine/threonine-protein kinase 1; TSK-1; TSK1; TSSK-1; TSSK1

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tssk1 (testis-specific serine kinase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tssk1b (testis-specific serine kinase 1B)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Pan paniscus (bonobo/pygmy chimpanzee):	TSSK1B (testis specific serine kinase 1B)	NCBI	Ortholog
Canis lupus familiaris (dog):	TSSK1 (testis specific serine kinase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tssk1b (testis specific serine kinase 1B)	NCBI	Ortholog
Sus scrofa (pig):	TSSK1 (testis specific serine kinase 1)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TSSK1B (testis specific serine kinase 1B)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tssk1b (testis specific serine kinase 1B)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Tssk2 (testis-specific serine kinase 2)	HGNC	OrthoDB
Canis lupus familiaris (dog):	TSSK2 (testis specific serine kinase 2)	HGNC	OrthoDB
Sus scrofa (pig):	TSSK2 (testis specific serine kinase 2)	HGNC	OrthoDB
Rattus norvegicus (Norway rat):	Qrich2 (glutamine rich 2)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tssk1b (testis-specific serine kinase 1B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tssk1 (testis-specific serine kinase 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG14305	Alliance	DIOPT (InParanoid\|OMA\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	C27D6.11	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	Y38H8A.4	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	tag-344	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	SKS1	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Saccharomyces cerevisiae (baker's yeast):	VHS1	Alliance	DIOPT (Ensembl Compara\|PANTHER)

Related Pseudogenes:

TSSK1A

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	113,432,553 - 113,434,989 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	113,432,553 - 113,434,989 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	112,768,250 - 112,770,686 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	112,796,570 - 112,798,565 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	108,716,065 - 108,718,542 (-)	NCBI		Celera
Cytogenetic Map	5	q22.2	NCBI
HuRef	5	107,951,168 - 107,953,645 (-)	NCBI		HuRef
CHM1_1	5	112,201,716 - 112,204,193 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	113,945,250 - 113,947,686 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autoimmune disease (ISO)

familial adenomatous polyposis 1 (IAGP)

genetic disease (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4,4'-sulfonyldiphenol (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

clofibrate (ISO)

copper atom (ISO)

copper(0) (ISO)

furan (ISO)

indole-3-methanol (ISO)

simazine (ISO)

sunitinib (EXP)

Triptolide (ISO)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IEA)

intracellular signal transduction (IEA)

spermatid development (IEA,ISS)

spermatogenesis (IEA)

Cellular Component

acrosomal vesicle (IEA)

cell projection (IEA)

cilium (IEA)

cytoplasm (IEA)

cytoplasmic vesicle (IEA)

motile cilium (IEA,ISS)

Molecular Function

ATP binding (IDA,IEA)

kinase activity (IEA)

magnesium ion binding (IDA,IEA)

metal ion binding (IEA)

nucleotide binding (IEA)

protein binding (IPI)

protein kinase activity (IEA)

protein serine kinase activity (IEA)

protein serine/threonine kinase activity (IBA,IDA,IEA)

protein-containing complex binding (IEA)

transferase activity (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12477932	PMID:12556502	PMID:14702039	PMID:15044604	PMID:15733851	PMID:15761153	PMID:16344560	PMID:19490893	PMID:19530700	PMID:21873635	PMID:22939624	PMID:23258646
PMID:25416956	PMID:26186194	PMID:28514442	PMID:32296183	PMID:32707033	PMID:33961781	PMID:35485285	PMID:36931259

Genomics

Comparative Map Data

TSSK1B
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	113,432,553 - 113,434,989 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	113,432,553 - 113,434,989 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	112,768,250 - 112,770,686 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	112,796,570 - 112,798,565 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	5	108,716,065 - 108,718,542 (-)	NCBI		Celera
Cytogenetic Map	5	q22.2	NCBI
HuRef	5	107,951,168 - 107,953,645 (-)	NCBI		HuRef
CHM1_1	5	112,201,716 - 112,204,193 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	113,945,250 - 113,947,686 (-)	NCBI		T2T-CHM13v2.0

Tssk1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	17,712,067 - 17,713,517 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	16	17,712,087 - 17,715,786 (+)	Ensembl		GRCm39 Ensembl
GRCm38	16	17,894,203 - 17,895,653 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	17,894,223 - 17,897,922 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	17,894,296 - 17,895,746 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	16	17,807,857 - 17,809,216 (+)	NCBI		MGSCv36	mm8
Celera	16	18,467,268 - 18,468,718 (+)	NCBI		Celera
Cytogenetic Map	16	A3	NCBI
cM Map	16	11.09	NCBI

Tssk1b
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	11	96,595,216 - 96,596,639 (-)	NCBI		GRCr8
mRatBN7.2	11	83,090,930 - 83,092,353 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	11	83,086,578 - 83,093,011 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	11	91,819,546 - 91,820,969 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	11	84,480,680 - 84,482,103 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	11	83,534,295 - 83,535,718 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	11	87,239,410 - 87,240,833 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	11	87,239,412 - 87,240,833 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	11	90,330,973 - 90,332,396 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	11	85,079,063 - 85,080,486 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	11	85,119,659 - 85,121,083 (-)	NCBI
Celera	11	81,866,941 - 81,868,364 (-)	NCBI		Celera
Cytogenetic Map	11	q23	NCBI

TSSK1B
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	4	108,684,587 - 108,695,058 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	106,840,770 - 106,848,713 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	108,790,115 - 108,794,426 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	114,592,477 - 114,594,528 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

TSSK1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	26	30,050,195 - 30,051,599 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	26	30,009,919 - 30,011,391 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	31,457,133 - 31,458,602 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	26	31,457,334 - 31,458,443 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	26	29,505,288 - 29,506,757 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	29,129,731 - 29,131,200 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	30,217,878 - 30,219,347 (-)	NCBI		UU_Cfam_GSD_1.0

Tssk1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	139,629,594 - 139,633,538 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936619	3,123,157 - 3,124,266 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936619	3,121,338 - 3,124,475 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TSSK1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	50,937,885 - 50,938,979 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	50,937,885 - 50,938,979 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	54,444,011 - 54,445,105 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TSSK1B
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	23	16,721,966 - 16,724,314 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	16,722,742 - 16,723,842 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666034	61,709,688 - 61,712,498 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tssk1b
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624771	10,522,506 - 10,523,615 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624771	10,522,357 - 10,523,770 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TSSK1B
23 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	copy number gain	See cases [RCV000051841]	Chr5:96454445..114050905 [GRCh38] Chr5:95790149..113386602 [GRCh37] Chr5:95815905..113414501 [NCBI36] Chr5:5q15-22.3	pathogenic
GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	copy number loss	See cases [RCV000053523]	Chr5:102373396..113594030 [GRCh38] Chr5:101709100..112929727 [GRCh37] Chr5:101736999..112957626 [NCBI36] Chr5:5q21.1-22.2	pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	copy number loss	See cases [RCV000053524]	Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2	pathogenic
NM_032028.3(TSSK1B):c.489G>A (p.Arg163=)	single nucleotide variant	Malignant melanoma [RCV000061092]	Chr5:113434351 [GRCh38] Chr5:112770048 [GRCh37] Chr5:112797947 [NCBI36] Chr5:5q22.2	not provided
GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	copy number loss	See cases [RCV000133813]	Chr5:108585264..116815075 [GRCh38] Chr5:107920965..116150771 [GRCh37] Chr5:107948864..116178670 [NCBI36] Chr5:5q21.3-23.1	pathogenic
GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	copy number loss	See cases [RCV000135699]	Chr5:107002209..118025316 [GRCh38] Chr5:106337910..117361011 [GRCh37] Chr5:106365809..117388910 [NCBI36] Chr5:5q21.3-23.1	pathogenic
GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	copy number loss	See cases [RCV000135549]	Chr5:111463016..127193038 [GRCh38] Chr5:110798714..126528730 [GRCh37] Chr5:110826613..126556629 [NCBI36] Chr5:5q22.1-23.2	pathogenic
GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	copy number loss	See cases [RCV000139235]	Chr5:110687442..130103838 [GRCh38] Chr5:110023143..129439531 [GRCh37] Chr5:110051042..129467430 [NCBI36] Chr5:5q22.1-23.3	pathogenic\|uncertain significance
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	copy number loss	See cases [RCV000139893]	Chr5:90374606..128076423 [GRCh38] Chr5:89670423..127412115 [GRCh37] Chr5:89706179..127440014 [NCBI36] Chr5:5q14.3-23.3	pathogenic
GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	copy number loss	See cases [RCV000141252]	Chr5:92899734..119614119 [GRCh38] Chr5:92235441..118949814 [GRCh37] Chr5:92261197..118977713 [NCBI36] Chr5:5q14.3-23.1	pathogenic
GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	copy number loss	See cases [RCV000140791]	Chr5:112323517..117773507 [GRCh38] Chr5:111659214..117109202 [GRCh37] Chr5:111687113..117137101 [NCBI36] Chr5:5q22.2-23.1	pathogenic
GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	copy number loss	See cases [RCV000143326]	Chr5:108308463..125777797 [GRCh38] Chr5:107644164..125113490 [GRCh37] Chr5:107672063..125141389 [NCBI36] Chr5:5q21.3-23.2	pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	copy number loss	See cases [RCV000143746]	Chr5:91411708..131319563 [GRCh38] Chr5:90707525..130655256 [GRCh37] Chr5:90743281..130683155 [NCBI36] Chr5:5q14.3-31.1	pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	copy number gain	not provided [RCV000487658]	Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3	likely benign
GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	copy number loss	See cases [RCV000446959]	Chr5:110407606..122522885 [GRCh37] Chr5:5q22.1-23.2	pathogenic
GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)x1	copy number loss	See cases [RCV000445968]	Chr5:100607918..125900735 [GRCh37] Chr5:5q21.1-23.2	pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	copy number gain	See cases [RCV000448245]	Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3	pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	copy number loss	See cases [RCV000511978]	Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	copy number gain	See cases [RCV000512039]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	copy number gain	See cases [RCV000510723]	Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	Familial adenomatous polyposis 1 [RCV002231249]\|Hereditary cancer-predisposing syndrome [RCV000554476]	Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3	copy number gain	not provided [RCV000744323]	Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3	copy number gain	not provided [RCV000744317]	Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	copy number gain	not provided [RCV000849289]	Chr5:89949118..129317455 [GRCh37] Chr5:5q14.3-23.3	pathogenic
GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	copy number loss	not provided [RCV000846246]	Chr5:108304806..121335239 [GRCh37] Chr5:5q21.3-23.1	pathogenic
GRCh37/hg19 5q22.2-22.3(chr5:112115007-113452981)x3	copy number gain	not provided [RCV001005717]	Chr5:112115007..113452981 [GRCh37] Chr5:5q22.2-22.3	uncertain significance
GRCh37/hg19 5q22.2(chr5:112675098-112819027)x1	copy number loss	not provided [RCV001005720]	Chr5:112675098..112819027 [GRCh37] Chr5:5q22.2	uncertain significance
GRCh37/hg19 5q22.2-22.3(chr5:111676467-113755797)	copy number loss	not specified [RCV002053519]	Chr5:111676467..113755797 [GRCh37] Chr5:5q22.2-22.3	pathogenic
GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	copy number loss	not specified [RCV002053511]	Chr5:93650000..114969108 [GRCh37] Chr5:5q15-22.3	pathogenic
GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	copy number loss	not specified [RCV002053515]	Chr5:100607918..125900735 [GRCh37] Chr5:5q21.1-23.2	pathogenic
GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660)	copy number loss	not specified [RCV002053518]	Chr5:111443783..116255660 [GRCh37] Chr5:5q22.1-23.1	pathogenic
GRCh37/hg19 5q22.2-22.3(chr5:112557390-113533814)	copy number gain	not specified [RCV002053520]	Chr5:112557390..113533814 [GRCh37] Chr5:5q22.2-22.3	uncertain significance
NM_032028.4(TSSK1B):c.271G>C (p.Glu91Gln)	single nucleotide variant	Inborn genetic diseases [RCV002733959]	Chr5:113434569 [GRCh38] Chr5:112770266 [GRCh37] Chr5:5q22.2	uncertain significance
GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	copy number loss	not provided [RCV002475732]	Chr5:112557391..128106299 [GRCh37] Chr5:5q22.2-23.3	pathogenic
NM_032028.4(TSSK1B):c.649G>A (p.Asp217Asn)	single nucleotide variant	Inborn genetic diseases [RCV002911854]	Chr5:113434191 [GRCh38] Chr5:112769888 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.397G>A (p.Val133Ile)	single nucleotide variant	Inborn genetic diseases [RCV002951023]	Chr5:113434443 [GRCh38] Chr5:112770140 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.500G>A (p.Gly167Asp)	single nucleotide variant	Inborn genetic diseases [RCV002845875]	Chr5:113434340 [GRCh38] Chr5:112770037 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.545C>T (p.Ala182Val)	single nucleotide variant	Inborn genetic diseases [RCV002666197]	Chr5:113434295 [GRCh38] Chr5:112769992 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.1016C>T (p.Ser339Leu)	single nucleotide variant	Inborn genetic diseases [RCV002701948]	Chr5:113433824 [GRCh38] Chr5:112769521 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.10G>A (p.Ala4Thr)	single nucleotide variant	Inborn genetic diseases [RCV002709903]	Chr5:113434830 [GRCh38] Chr5:112770527 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.488G>A (p.Arg163Gln)	single nucleotide variant	Inborn genetic diseases [RCV002955607]	Chr5:113434352 [GRCh38] Chr5:112770049 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.26G>A (p.Arg9Gln)	single nucleotide variant	Inborn genetic diseases [RCV002666369]	Chr5:113434814 [GRCh38] Chr5:112770511 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.592G>A (p.Asp198Asn)	single nucleotide variant	Inborn genetic diseases [RCV002930236]	Chr5:113434248 [GRCh38] Chr5:112769945 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.725C>T (p.Thr242Ile)	single nucleotide variant	Inborn genetic diseases [RCV002873167]	Chr5:113434115 [GRCh38] Chr5:112769812 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.196A>G (p.Met66Val)	single nucleotide variant	Inborn genetic diseases [RCV002956295]	Chr5:113434644 [GRCh38] Chr5:112770341 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.1012C>G (p.Gln338Glu)	single nucleotide variant	Inborn genetic diseases [RCV002664826]	Chr5:113433828 [GRCh38] Chr5:112769525 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.875G>A (p.Arg292Gln)	single nucleotide variant	Inborn genetic diseases [RCV002675309]	Chr5:113433965 [GRCh38] Chr5:112769662 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.586G>A (p.Val196Met)	single nucleotide variant	Inborn genetic diseases [RCV002769713]	Chr5:113434254 [GRCh38] Chr5:112769951 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.625A>G (p.Met209Val)	single nucleotide variant	Inborn genetic diseases [RCV002960769]	Chr5:113434215 [GRCh38] Chr5:112769912 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.830G>A (p.Arg277Gln)	single nucleotide variant	Inborn genetic diseases [RCV002809973]	Chr5:113434010 [GRCh38] Chr5:112769707 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.739G>A (p.Asp247Asn)	single nucleotide variant	Inborn genetic diseases [RCV003186206]	Chr5:113434101 [GRCh38] Chr5:112769798 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.874C>T (p.Arg292Trp)	single nucleotide variant	Inborn genetic diseases [RCV003207088]	Chr5:113433966 [GRCh38] Chr5:112769663 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.1069C>T (p.Pro357Ser)	single nucleotide variant	Inborn genetic diseases [RCV003211955]	Chr5:113433771 [GRCh38] Chr5:112769468 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.896C>A (p.Thr299Asn)	single nucleotide variant	Inborn genetic diseases [RCV003345068]	Chr5:113433944 [GRCh38] Chr5:112769641 [GRCh37] Chr5:5q22.2	uncertain significance
NM_032028.4(TSSK1B):c.891G>T (p.Leu297Phe)	single nucleotide variant	Inborn genetic diseases [RCV003375894]	Chr5:113433949 [GRCh38] Chr5:112769646 [GRCh37] Chr5:5q22.2	uncertain significance
GRCh37/hg19 5q22.2-22.3(chr5:111971571-113400877)x3	copy number gain	not provided [RCV003484622]	Chr5:111971571..113400877 [GRCh37] Chr5:5q22.2-22.3	uncertain significance
GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	copy number loss	not specified [RCV003986577]	Chr5:93828571..123711334 [GRCh37] Chr5:5q15-23.2	pathogenic
GRCh37/hg19 5q22.2(chr5:111804505-112842185)x3	copy number gain	not specified [RCV003986604]	Chr5:111804505..112842185 [GRCh37] Chr5:5q22.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	499
Count of miRNA genes:	397
Interacting mature miRNAs:	428
Transcripts:	ENST00000390666
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
High
Medium											302
Low	1	2	2	2			11	2	6		81	2	2	1	5
Below cutoff	82	90	95	57	25	10	353	73	239	21	189	65	47	61	180

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_032028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB284522	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC010431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF348076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK122904	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY028964	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC022515	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB025324	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB527624	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC007364	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC044763	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005678	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000390666 ⟹ ENSP00000375081

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	113,432,553 - 113,434,989 (-)	Ensembl

RefSeq Acc Id:

NM_032028 ⟹ NP_114417

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	113,432,553 - 113,434,989 (-)	NCBI
GRCh37	5	112,768,251 - 112,770,728 (-)	RGD
Build 36	5	112,796,570 - 112,798,565 (-)	NCBI Archive
Celera	5	108,716,065 - 108,718,542 (-)	RGD
HuRef	5	107,951,168 - 107,953,645 (-)	ENTREZGENE
CHM1_1	5	112,201,716 - 112,204,193 (-)	NCBI
T2T-CHM13v2.0	5	113,945,250 - 113,947,686 (-)	NCBI

Sequence:

show sequence

ACTCCAGAGTCTTGGCCTCTAGGAGGCAGGAACAGCAGGCCTGGCCAGCCCAAAGGACTCTCTA
TCCAGGATGTAAATGAGCACACTGCTGGCCCATGCGCCTCGGGGCTGTAGAGGGCAGCCTCAGA
GGCACTGGGCATTCCTGGCACCATGGATGACGCTGCTGTCCTCAAGCGACGAGGCTACCTCCTG
GGGATAAATTTAGGAGAGGGCTCCTATGCAAAAGTAAAATCTGCTTACTCTGAGCGCCTGAAGT
TCAATGTGGCGATCAAGATCATCGACCGCAAGAAGGCCCCCGCAGACTTCTTGGAGAAATTCCT
TCCCCGGGAAATTGAGATTCTGGCCATGTTAAACCACTGCTCCATCATTAAGACCTACGAGATC
TTTGAGACATCACATGGCAAGGTCTACATCGTCATGGAGCTCGCGGTCCAGGGCGACCTCCTCG
AGTTAATCAAAACCCGGGGAGCCCTGCATGAGGACGAAGCTCGCAAGAAGTTCCACCAGCTTTC
CTTGGCCATCAAGTACTGCCACGACCTGGACGTCGTCCACCGGGACCTCAAGTGTGACAACCTT
CTCCTTGACAAGGACTTCAACATCAAGCTGTCCGACTTCAGCTTCTCCAAGCGCTGCCTGCGGG
ATGACAGTGGTCGAATGGCATTAAGCAAGACCTTCTGTGGGTCACCAGCGTATGCGGCCCCAGA
GGTGCTGCAGGGCATTCCCTACCAGCCCAAGGTGTACGACATCTGGAGCCTAGGCGTGATCCTC
TACATCATGGTCTGCGGCTCCATGCCCTACGACGACTCCAACATCAAGAAGATGCTGCGTATCC
AGAAGGAGCACCGCGTCAACTTCCCACGCTCCAAGCACCTGACAGGCGAGTGCAAGGACCTCAT
CTACCACATGCTGCAGCCCGACGTCAACCGGCGGCTCCACATCGACGAGATCCTCAGCCACTGC
TGGATGCAGCCCAAGGCACGGGGATCTCCCTCTGTGGCCATCAACAAGGAGGGGGAGAGTTCCC
GGGGAACTGAACCCTTGTGGACCCCCGAACCTGGCTCTGACAAGAAGTCTGCCACCAAGCTGGA
GCCTGAGGGAGAGGCACAGCCCCAGGCACAGCCTGAGACAAAACCCGAGGGGACAGCAATGCAA
ATGTCCAGGCAGTCGGAGATCCTGGGTTTCCCCAGCAAGCCGTCGACTATGGAGACAGAGGAAG
GGCCCCCCCAACAGCCTCCAGAGACGCGGGCCCAGTGAGCTTCTTGCGGCCCAGGGAATGAGAT
GGAGCTCACGGCTTAAAGCCCAAGCTCTGAAGAAGTCAAGGGTGGAGCCAGAGAAGGAAGGCAG
TCCCAGATGAGCCTCTATTTTCATCAGCTTCTTCTCTCTCCCCTTGAACTTGGTAACCCACATG
GTTCTCCCGTGGCCCCTAGGTGGATGAGGCCAAAGTCAAATCCAAGGCTGAGACAGTCGTGCGA
CTCCTACTCCCCCAGAGCGTGACCCGGAGCAGGTGCTGGACACAGAGCCTGTCTCAGCAGAGGG
TCCCCACTGGCCGCAACGGCTCAGTGACAGCAAGAGCAGGAAGAGCAGCAGGAAGGCACCGCTG
TCCACCTTGGGCACCATTTATCCTCCTTTCATCGTCCCCGGGGCAGTTGCGTGACCCTGCTGGG
AGGCCAGACCGGGCCAGACTGAGGGTCAGGGGACCAGGCTGGGTTGGGGGTTGGGTGGGGCTGG
ACGGGGACGAGGCGCGGAGAGGCGGCGGGAAAGAGCTTCGGCTGGGCCACGGGCTCGCGGGCAC
TCTCGGCGGCAGCCTCGGGGGCTCCGACTCCAGCTCTGGGCAAGATCCATAAACTTTTAAAGAA
GCCTCAAAACATACTTTTAAAGCATTAAGCTTTAAAGTGCTAGAAATCTTGTGCCCCATATGTG
CTTCTTTCAGTATTATCCTAGATCCTCAGGAGTAGCATGGCAACTGGAGAAAATGGGAGGAAAG
ACAAGAAGAAATAGAAGCTGATTTAACATCAAGTTTATTCAGTTTTGATTTTTCTTATCTCTAC
TGGCTTTCTCCTGTTCAAACCTTGCAGCGATAATATTTGGAAAAGAGCACTTGGAAATTATATT
CCTGTTTTTAACTCTTTATATTTAATCATTCTCCTTGTAATTGATTTTGTAGCTAATTTACTCC
CCAGCACCCCCAGAAGAAAATTTTACAAAGGAAAATGTTTTATTTTTATTTTTTCCTTATCAAC
TTTTTATTTAAATGCTAATATCCAATTAATGGACAAACGAATCAGCTAATACTGGAAACAATGT
AACAATAGTGAAAAGCATGAACTTTTGATTTCTATAGACCGAATTTGACTCTGCTACTAAATGA
TCTTGGGCAAGTTGGTTAATCTATATGTCTCAGTTTCTTTATCTATAAAATGAGAATAATACAA
CTTCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_114417	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH22515	(Get FASTA)	NCBI Sequence Viewer
	AAK27734	(Get FASTA)	NCBI Sequence Viewer
	AAK29413	(Get FASTA)	NCBI Sequence Viewer
	AEE61275	(Get FASTA)	NCBI Sequence Viewer
	BAF41973	(Get FASTA)	NCBI Sequence Viewer
	BAG36136	(Get FASTA)	NCBI Sequence Viewer
	BAG53792	(Get FASTA)	NCBI Sequence Viewer
	CBH19487	(Get FASTA)	NCBI Sequence Viewer
	CBH30711	(Get FASTA)	NCBI Sequence Viewer
	EAW48983	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000375081
	ENSP00000375081.3
GenBank Protein	Q9BXA7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_114417 ⟸ NM_032028

- UniProtKB:

B2R8D9 (UniProtKB/Swiss-Prot), Q9BXA7 (UniProtKB/Swiss-Prot), A0ZT98 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MDDAAVLKRRGYLLGINLGEGSYAKVKSAYSERLKFNVAIKIIDRKKAPADFLEKFLPREIEIL
AMLNHCSIIKTYEIFETSHGKVYIVMELAVQGDLLELIKTRGALHEDEARKKFHQLSLAIKYCH
DLDVVHRDLKCDNLLLDKDFNIKLSDFSFSKRCLRDDSGRMALSKTFCGSPAYAAPEVLQGIPY
QPKVYDIWSLGVILYIMVCGSMPYDDSNIKKMLRIQKEHRVNFPRSKHLTGECKDLIYHMLQPD
VNRRLHIDEILSHCWMQPKARGSPSVAINKEGESSRGTEPLWTPEPGSDKKSATKLEPEGEAQP
QAQPETKPEGTAMQMSRQSEILGFPSKPSTMETEEGPPQQPPETRAQ

hide sequence

RefSeq Acc Id:

ENSP00000375081 ⟸ ENST00000390666

Protein Domains

Protein kinase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BXA7-F1-model_v2	AlphaFold	Q9BXA7	1-367	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:14968	AgrOrtholog
COSMIC	TSSK1B	COSMIC
Ensembl Genes	ENSG00000212122	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000390666	ENTREZGENE
	ENST00000390666.4	UniProtKB/Swiss-Prot
Gene3D-CATH	Transferase(Phosphotransferase) domain 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000212122	GTEx
HGNC ID	HGNC:14968	ENTREZGENE
Human Proteome Map	TSSK1B	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:83942	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	83942	ENTREZGENE
OMIM	610709	OMIM
PANTHER	MAP/MICROTUBULE AFFINITY-REGULATING KINASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TESTIS-SPECIFIC SERINE_THREONINE-PROTEIN KINASE 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Pkinase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA37944	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	A0ZT98	ENTREZGENE, UniProtKB/TrEMBL
	B2R8D9	ENTREZGENE
	Q9BXA7	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	B2R8D9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-02	TSSK1B	testis specific serine kinase 1B		testis-specific serine kinase 1B	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar

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