CLK4 (CDC like kinase 4) - Rat Genome Database

Name: CLK4
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: CLK4 (CDC like kinase 4) Homo sapiens

Analyze

Symbol:

CLK4

Name:

CDC like kinase 4

RGD ID:

1321078

HGNC Page

HGNC:13659

Description:

Predicted to enable protein serine/threonine kinase activity and protein tyrosine kinase activity. Involved in regulation of RNA splicing. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CDC-like kinase 4; DKFZp686A20267; dual specificity protein kinase CLK4; protein serine threonine kinase Clk4

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):	Clk4 (CDC like kinase 4)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Clk4 (CDC-like kinase 4)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Clk4 (CDC like kinase 4)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CLK4 (CDC like kinase 4)	NCBI	Ortholog
Canis lupus familiaris (dog):	CLK4 (CDC like kinase 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Clk4 (CDC like kinase 4)	NCBI	Ortholog
Sus scrofa (pig):	CLK4 (CDC like kinase 4)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CLK4 (CDC like kinase 4)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Clk4 (CDC like kinase 4)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Clk1 (CDC-like kinase 1)	HGNC	OrthoMCL
Rattus norvegicus (Norway rat):	Parn (poly(A)-specific ribonuclease)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Clk4 (CDC-like kinase 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Mus musculus (house mouse):	Clk4 (CDC like kinase 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	clk4a (CDC-like kinase 4a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	clk4b (CDC-like kinase 4b)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Doa	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Saccharomyces cerevisiae (baker's yeast):	KNS1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	madd-3	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	clk1	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER\|PhylomeDB)

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	178,602,664 - 178,627,050 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	178,602,664 - 178,630,615 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	178,029,665 - 178,054,051 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	177,962,271 - 177,986,660 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	177,962,271 - 177,986,660	NCBI
Celera	5	173,657,123 - 173,681,183 (-)	NCBI		Celera
Cytogenetic Map	5	q35.3	NCBI
HuRef	5	172,756,811 - 172,777,551 (-)	NCBI		HuRef
CHM1_1	5	177,462,038 - 177,486,420 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	179,154,636 - 179,179,025 (-)	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

Ehlers-Danlos syndrome dermatosparaxis type (IAGP)

Ehlers-Danlos syndrome spondylodysplastic type 2 (IAGP)

genetic disease (IAGP)

Sotos syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

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

2-palmitoylglycerol (EXP)

5-iodotubercidin (EXP)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

acrolein (EXP)

afimoxifene (EXP)

aflatoxin B1 (EXP,ISO)

alpha-pinene (EXP)

amitrole (ISO)

Aroclor 1254 (ISO)

arsenous acid (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chlorpyrifos (ISO)

choline (ISO)

chrysene (ISO)

cisplatin (EXP)

cocaine (ISO)

copper atom (ISO)

copper(0) (ISO)

cyclosporin A (EXP,ISO)

diarsenic trioxide (EXP)

dicrotophos (EXP)

doxorubicin (EXP)

ethanol (ISO)

ethyl methanesulfonate (EXP)

ferric oxide (ISO)

fluoranthene (ISO)

folic acid (ISO)

formaldehyde (EXP)

FR900359 (EXP)

geldanamycin (EXP)

gentamycin (ISO)

hydrogen peroxide (EXP)

L-methionine (ISO)

leflunomide (EXP)

methimazole (ISO)

methotrexate (EXP)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

ozone (EXP,ISO)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (EXP)

phenobarbital (ISO)

phorone (ISO)

resveratrol (EXP)

silicon dioxide (EXP,ISO)

sodium arsenate (ISO)

sodium arsenite (EXP)

sulfadimethoxine (ISO)

sunitinib (EXP)

tamoxifen (ISO)

tetraphene (ISO)

thimerosal (EXP)

titanium dioxide (ISO)

triptonide (ISO)

valproic acid (EXP,ISO)

vinclozolin (ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

regulation of RNA splicing (IBA,IEA,IMP)

Cellular Component

nucleus (IBA,IEA)

Molecular Function

ATP binding (IEA)

kinase activity (IEA)

nucleotide binding (IEA)

protein binding (IPI)

protein kinase activity (IEA)

protein serine kinase activity (IEA)

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

protein serine/threonine/tyrosine kinase activity (IEA)

protein tyrosine kinase activity (IBA,IEA)

transferase activity (IEA)

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:11170754	PMID:12169693	PMID:12477932	PMID:12705895	PMID:12824502	PMID:16712791	PMID:17081983	PMID:19168442	PMID:21555454	PMID:21873635	PMID:21988832	PMID:22658674
PMID:23602568	PMID:25416956	PMID:26496610	PMID:27126587	PMID:28514442	PMID:29121065	PMID:31527615	PMID:32296183	PMID:32460013	PMID:32707033	PMID:33961781	PMID:34316707
PMID:35092699	PMID:35941108	PMID:35944360	PMID:36736316

Genomics

Comparative Map Data

CLK4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	178,602,664 - 178,627,050 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	178,602,664 - 178,630,615 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	178,029,665 - 178,054,051 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	177,962,271 - 177,986,660 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	177,962,271 - 177,986,660	NCBI
Celera	5	173,657,123 - 173,681,183 (-)	NCBI		Celera
Cytogenetic Map	5	q35.3	NCBI
HuRef	5	172,756,811 - 172,777,551 (-)	NCBI		HuRef
CHM1_1	5	177,462,038 - 177,486,420 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	5	179,154,636 - 179,179,025 (-)	NCBI		T2T-CHM13v2.0

Clk4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	51,153,941 - 51,172,597 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	51,152,557 - 51,172,593 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	51,263,114 - 51,281,770 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	51,261,730 - 51,281,766 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	51,076,673 - 51,095,266 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	51,106,594 - 51,125,187 (+)	NCBI		MGSCv36	mm8
Celera	11	55,822,951 - 55,841,544 (+)	NCBI		Celera
Cytogenetic Map	11	B1.3	NCBI
cM Map	11	31.02	NCBI

Clk4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	36,024,364 - 36,042,366 (+)	NCBI		GRCr8
mRatBN7.2	10	35,523,382 - 35,541,387 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	35,524,755 - 35,541,352 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	40,217,344 - 40,235,243 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	39,707,659 - 39,725,558 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	35,211,040 - 35,228,939 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	36,715,565 - 36,733,473 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	36,715,565 - 36,733,133 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	36,487,184 - 36,505,103 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	36,782,792 - 36,800,362 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	36,783,840 - 36,801,409 (+)	NCBI
Celera	10	34,879,664 - 34,897,233 (+)	NCBI		Celera
Cytogenetic Map	10	q22	NCBI

Clk4
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955408	1,719,963 - 1,747,878 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955408	1,726,283 - 1,747,314 (+)	NCBI	ChiLan1.0	ChiLan1.0

CLK4
(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	173,542,784 - 173,567,277 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	171,682,324 - 171,709,226 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	173,760,420 - 173,784,851 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	181,017,365 - 181,041,632 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	181,017,365 - 181,037,919 (-)	Ensembl	panpan1.1		panPan2

CLK4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	11	2,960,161 - 2,986,699 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	2,965,256 - 2,986,658 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	3,104,085 - 3,130,619 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	2,936,551 - 2,963,082 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	2,943,500 - 2,963,082 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	2,907,231 - 2,933,752 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	2,985,795 - 3,012,306 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	3,227,084 - 3,253,609 (+)	NCBI		UU_Cfam_GSD_1.0

Clk4
(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_024407213	113,055,729 - 113,081,781 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936647	67,000 - 88,149 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936647	62,478 - 83,947 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CLK4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	79,693,669 - 79,753,712 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	79,729,460 - 79,752,945 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	81,341,286 - 81,367,964 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CLK4
(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	80,290,716 - 80,313,200 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	23	80,288,120 - 80,313,255 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666075	11,602,496 - 11,625,658 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Clk4
(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 1.0	NW_004624733	41,713,524 - 41,752,822 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CLK4
16 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	copy number gain	See cases [RCV000051205]	Chr5:178529878..181269805 [GRCh38] Chr5:177956879..180696806 [GRCh37] Chr5:177889485..180629412 [NCBI36] Chr5:5q35.3	uncertain significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	copy number gain	See cases [RCV000051863]	Chr5:149714592..181272151 [GRCh38] Chr5:149094155..180699152 [GRCh37] Chr5:149074348..180631758 [NCBI36] Chr5:5q32-35.3	pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]\|See cases [RCV000051865]	Chr5:160029980..181269805 [GRCh38] Chr5:159456987..180696806 [GRCh37] Chr5:159389565..180629412 [NCBI36] Chr5:5q33.3-35.3	pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3	copy number gain	See cases [RCV000051866]	Chr5:168689326..181269946 [GRCh38] Chr5:168116331..180696947 [GRCh37] Chr5:168048909..180629553 [NCBI36] Chr5:5q34-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	copy number gain	See cases [RCV000051868]	Chr5:175889986..180793986 [GRCh38] Chr5:175316989..180220986 [GRCh37] Chr5:175249595..180153592 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1	copy number loss	See cases [RCV000052151]	Chr5:175007241..179089812 [GRCh38] Chr5:174434244..178516813 [GRCh37] Chr5:174366850..178449419 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	copy number gain	See cases [RCV000133847]	Chr5:156825512..181269805 [GRCh38] Chr5:156252523..180696806 [GRCh37] Chr5:156185101..180629412 [NCBI36] Chr5:5q33.3-35.3	pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	copy number gain	See cases [RCV000135546]	Chr5:164386701..181269805 [GRCh38] Chr5:163813707..180696806 [GRCh37] Chr5:163746285..180629412 [NCBI36] Chr5:5q34-35.3	pathogenic
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	copy number gain	See cases [RCV000141249]	Chr5:169334755..181285301 [GRCh38] Chr5:168761759..180712302 [GRCh37] Chr5:168694337..180644908 [NCBI36] Chr5:5q35.1-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	copy number loss	See cases [RCV000141987]	Chr5:175536771..181292788 [GRCh38] Chr5:174963774..180719789 [GRCh37] Chr5:174896380..180652395 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	copy number gain	See cases [RCV000142298]	Chr5:178235909..181292788 [GRCh38] Chr5:177662910..180719789 [GRCh37] Chr5:177595516..180652395 [NCBI36] Chr5:5q35.3	likely pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	copy number loss	See cases [RCV000142047]	Chr5:176291838..178662699 [GRCh38] Chr5:175718841..178089700 [GRCh37] Chr5:175651447..178022306 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	copy number loss	See cases [RCV000142648]	Chr5:176700128..181269805 [GRCh38] Chr5:176127129..180696806 [GRCh37] Chr5:176059735..180629412 [NCBI36] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	copy number loss	See cases [RCV000167565]	Chr5:174397487..180686444 [GRCh37] Chr5:5q35.2-35.3	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 5q35.2-35.3(chr5:174990352-180690937)	copy number gain	not provided [RCV000767711]	Chr5:174990352..180690937 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:177685272-178507516)x3	copy number gain	See cases [RCV000446619]	Chr5:177685272..178507516 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1	copy number loss	See cases [RCV000447018]	Chr5:176274007..180719789 [GRCh37] Chr5:5q35.2-35.3	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
GRCh37/hg19 5q35.2-35.3(chr5:176505173-178230923)x1	copy number loss	See cases [RCV000445817]	Chr5:176505173..178230923 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1	copy number loss	See cases [RCV000448611]	Chr5:174427052..180719789 [GRCh37] Chr5:5q35.2-35.3	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 5q35.2-35.3(chr5:175601473-180100378)x1	copy number loss	See cases [RCV000448793]	Chr5:175601473..180100378 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3	copy number gain	See cases [RCV000448458]	Chr5:171396359..180719789 [GRCh37] Chr5:5q35.1-35.3	pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	copy number gain	See cases [RCV000512068]	Chr5:172031248..180719789 [GRCh37] Chr5:5q35.1-35.3	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 5q35.2-35.3(chr5:175570677-180719789)x1	copy number loss	See cases [RCV000510785]	Chr5:175570677..180719789 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	copy number gain	See cases [RCV000512203]	Chr5:177535168..180719789 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177622252-178478398)x1	copy number loss	not provided [RCV000682622]	Chr5:177622252..178478398 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1	copy number loss	not provided [RCV000682619]	Chr5:176918345..179061393 [GRCh37] Chr5:5q35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:177532379-178306035)x3	copy number gain	not provided [RCV000682621]	Chr5:177532379..178306035 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	copy number loss	not provided [RCV000682620]	Chr5:177114088..180719789 [GRCh37] Chr5:5q35.3	uncertain significance
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
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 5q33.2-35.3(chr5:155344802-180693344)x3	copy number gain	not provided [RCV000745284]	Chr5:155344802..180693344 [GRCh37] Chr5:5q33.2-35.3	pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3	copy number gain	not provided [RCV000745336]	Chr5:174832617..180693344 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:177776148-180687012)	copy number loss	not provided [RCV000767663]	Chr5:177776148..180687012 [GRCh37] Chr5:5q35.3	likely pathogenic
Single allele	duplication	not provided [RCV000768450]	Chr5:175843728..180703728 [GRCh37] Chr5:5q35.2-35.3	likely pathogenic
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	copy number gain	Hunter-McAlpine craniosynostosis [RCV002280612]	Chr5:149010383..180719789 [GRCh37] Chr5:5q32-35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:177788681-178982549)x3	copy number gain	not provided [RCV000847906]	Chr5:177788681..178982549 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	copy number gain	not provided [RCV000846590]	Chr5:176643613..179085551 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	copy number gain	not provided [RCV000847220]	Chr5:176848982..180719789 [GRCh37] Chr5:5q35.3	pathogenic
NM_020666.3(CLK4):c.1310T>G (p.Phe437Cys)	single nucleotide variant	Inborn genetic diseases [RCV003292437]	Chr5:178603753 [GRCh38] Chr5:178030754 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.297C>T (p.Ile99=)	single nucleotide variant	not provided [RCV000958964]	Chr5:178618643 [GRCh38] Chr5:178045644 [GRCh37] Chr5:5q35.3	benign
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	copy number gain	5q35 microduplication syndrome [RCV001263227]	Chr5:170805664..180719789 [GRCh37] Chr5:5q35.1-35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:177954576-180198875)	copy number gain	not specified [RCV002053539]	Chr5:177954576..180198875 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177926393-178613706)	copy number loss	not specified [RCV002053538]	Chr5:177926393..178613706 [GRCh37] Chr5:5q35.3	uncertain significance
NC_000005.9:g.(?_177031160)_(178414004_?)dup	duplication	Ehlers-Danlos syndrome progeroid type [RCV003109629]	Chr5:177031160..178414004 [GRCh37] Chr5:5q35.3	uncertain significance
NC_000005.9:g.(?_175158654)_(179263593_?)dup	duplication	Ehlers-Danlos syndrome, dermatosparaxis type [RCV003116717]\|Sotos syndrome [RCV003232857]\|not provided [RCV003154288]	Chr5:175158654..179263593 [GRCh37] Chr5:5q35.2-35.3	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	copy number gain	See cases [RCV002292398]	Chr5:170350336..180719789 [GRCh37] Chr5:5q35.1-35.3	pathogenic
NM_020666.3(CLK4):c.571G>A (p.Val191Ile)	single nucleotide variant	Inborn genetic diseases [RCV002945120]	Chr5:178613815 [GRCh38] Chr5:178040816 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	copy number gain	not provided [RCV002475701]	Chr5:177746012..179975280 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.202C>T (p.Arg68Trp)	single nucleotide variant	Inborn genetic diseases [RCV002659845]	Chr5:178618738 [GRCh38] Chr5:178045739 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.71G>A (p.Arg24His)	single nucleotide variant	Inborn genetic diseases [RCV002703951]	Chr5:178623346 [GRCh38] Chr5:178050347 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.1204C>G (p.Gln402Glu)	single nucleotide variant	Inborn genetic diseases [RCV002661264]	Chr5:178605313 [GRCh38] Chr5:178032314 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.350G>A (p.Arg117His)	single nucleotide variant	Inborn genetic diseases [RCV003000361]	Chr5:178618590 [GRCh38] Chr5:178045591 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.592C>T (p.Arg198Cys)	single nucleotide variant	Inborn genetic diseases [RCV002924403]	Chr5:178613794 [GRCh38] Chr5:178040795 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.1358G>A (p.Arg453Gln)	single nucleotide variant	Inborn genetic diseases [RCV002956214]	Chr5:178603705 [GRCh38] Chr5:178030706 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.467G>A (p.Arg156Lys)	single nucleotide variant	Inborn genetic diseases [RCV002931558]	Chr5:178617352 [GRCh38] Chr5:178044353 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.545A>G (p.Asp182Gly)	single nucleotide variant	Inborn genetic diseases [RCV002874427]	Chr5:178613841 [GRCh38] Chr5:178040842 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.832C>T (p.His278Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002809553]	Chr5:178612885 [GRCh38] Chr5:178039886 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.217G>A (p.Val73Ile)	single nucleotide variant	Inborn genetic diseases [RCV002677299]	Chr5:178618723 [GRCh38] Chr5:178045724 [GRCh37] Chr5:5q35.3	likely benign
NM_020666.3(CLK4):c.38A>G (p.Asp13Gly)	single nucleotide variant	Inborn genetic diseases [RCV002655697]	Chr5:178623379 [GRCh38] Chr5:178050380 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.550A>G (p.Met184Val)	single nucleotide variant	Inborn genetic diseases [RCV003208544]	Chr5:178613836 [GRCh38] Chr5:178040837 [GRCh37] Chr5:5q35.3	uncertain significance
NM_020666.3(CLK4):c.1010T>C (p.Leu337Ser)	single nucleotide variant	Inborn genetic diseases [RCV003375972]	Chr5:178612457 [GRCh38] Chr5:178039458 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	copy number loss	not specified [RCV003986570]	Chr5:176385815..178410738 [GRCh37] Chr5:5q35.2-35.3	pathogenic
GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	copy number gain	not specified [RCV003986579]	Chr5:177944162..180183615 [GRCh37] Chr5:5q35.3	uncertain significance
GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	copy number gain	not specified [RCV003986542]	Chr5:177944162..180198875 [GRCh37] Chr5:5q35.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3386
Count of miRNA genes:	1138
Interacting mature miRNAs:	1414
Transcripts:	ENST00000316308, ENST00000519132, ENST00000519583, ENST00000520126, ENST00000520199, ENST00000520878, ENST00000520909, ENST00000520957, ENST00000521621, ENST00000522136, ENST00000522556, ENST00000522749, ENST00000523013
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

WI-18382

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	178,029,730 - 178,029,857	UniSTS	GRCh37
Build 36	5	177,962,336 - 177,962,463	RGD	NCBI36
Celera	5	173,657,188 - 173,657,315	RGD
Cytogenetic Map	5	q35	UniSTS
HuRef	5	172,756,876 - 172,757,003	UniSTS
GeneMap99-GB4 RH Map	5	650.7	UniSTS
Whitehead-RH Map	5	546.0	UniSTS

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

2099

1741

1256

285

1015

132

3851

1590

2417

175

1278

1298

161

1110

2598

Low

340

1247

469

338

933

332

506

607

1317

244

182

314

190

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_020666	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC022096	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF294429	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294921	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308578	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308879	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309215	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311485	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX961896	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034633	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC046211	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC063116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC136261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143538	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143547	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC151233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX647323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB127989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR749504	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000316308 ⟹ ENSP00000316948

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,602,664 - 178,627,050 (-)	Ensembl

RefSeq Acc Id:

ENST00000519132

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,603,270 - 178,617,388 (-)	Ensembl

RefSeq Acc Id:

ENST00000519583

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,603,272 - 178,627,041 (-)	Ensembl

RefSeq Acc Id:

ENST00000520126

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,617,731 - 178,627,052 (-)	Ensembl

RefSeq Acc Id:

ENST00000520199

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,617,071 - 178,627,054 (-)	Ensembl

RefSeq Acc Id:

ENST00000520878

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,602,664 - 178,627,088 (-)	Ensembl

RefSeq Acc Id:

ENST00000520909

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,617,697 - 178,630,615 (-)	Ensembl

RefSeq Acc Id:

ENST00000520957 ⟹ ENSP00000430892

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,621,812 - 178,627,030 (-)	Ensembl

RefSeq Acc Id:

ENST00000521621 ⟹ ENSP00000428651

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,603,270 - 178,627,029 (-)	Ensembl

RefSeq Acc Id:

ENST00000522136 ⟹ ENSP00000429195

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,603,168 - 178,627,055 (-)	Ensembl

RefSeq Acc Id:

ENST00000522556 ⟹ ENSP00000430216

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,618,694 - 178,627,112 (-)	Ensembl

RefSeq Acc Id:

ENST00000522749

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,616,882 - 178,620,119 (-)	Ensembl

RefSeq Acc Id:

ENST00000523013

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,621,809 - 178,623,339 (-)	Ensembl

RefSeq Acc Id:

ENST00000611575 ⟹ ENSP00000479788

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,603,589 - 178,627,001 (-)	Ensembl

RefSeq Acc Id:

ENST00000611733 ⟹ ENSP00000480792

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	178,602,665 - 178,627,053 (-)	Ensembl

RefSeq Acc Id:

NM_020666 ⟹ NP_065717

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	178,602,664 - 178,627,050 (-)	NCBI
GRCh37	5	178,029,664 - 178,054,093 (-)	NCBI
Build 36	5	177,962,271 - 177,986,660 (-)	NCBI Archive
Celera	5	173,657,123 - 173,681,183 (-)	RGD
HuRef	5	172,756,811 - 172,777,551 (-)	RGD
CHM1_1	5	177,462,038 - 177,486,420 (-)	NCBI
T2T-CHM13v2.0	5	179,154,636 - 179,179,025 (-)	NCBI

Sequence:

show sequence

GACGGCGCTGCCGCCATTTTGTGGGGTGTTTGTCGCAGCGGCCGAGGAGGGAAGACGGCAGTTT
GGCGACATTTCTCGGCCGAAGGGCCATTTGCTTTTGCGGAGATGCGGCATTCCAAAAGAACTCA
CTGTCCTGATTGGGATAGCAGAGAAAGCTGGGGACATGAAAGCTATCGTGGAAGTCACAAGCGG
AAGAGGAGATCTCATAGTAGCACACAAGAGAACAGGCATTGTAAACCACATCACCAGTTTAAAG
AATCTGATTGTCATTATTTAGAAGCAAGGTCCTTGAATGAGCGAGATTATCGGGACCGGAGATA
CGTTGACGAATACAGGAATGACTACTGTGAAGGATATGTTCCTAGACATTATCACAGAGACATT
GAAAGCGGGTATCGAATCCACTGCAGTAAATCTTCAGTCCGCAGCAGGAGAAGCAGTCCTAAAA
GGAAGCGCAATAGACACTGTTCAAGTCATCAGTCACGTTCGAAGAGCCACCGAAGGAAAAGATC
CAGGAGTATAGAGGATGATGAGGAGGGTCACCTGATCTGTCAAAGTGGAGACGTTCTAAGAGCA
AGATATGAAATCGTGGACACTTTGGGTGAAGGAGCCTTTGGCAAAGTTGTAGAGTGCATTGATC
ATGGCATGGATGGCATGCATGTAGCAGTGAAAATCGTAAAAAATGTAGGCCGTTACCGTGAAGC
AGCTCGTTCAGAAATCCAAGTATTAGAGCACTTAAATAGTACTGATCCCAATAGTGTCTTCCGA
TGTGTCCAGATGCTAGAATGGTTTGATCATCATGGTCATGTTTGTATTGTGTTTGAACTACTGG
GACTTAGTACTTACGATTTCATTAAAGAAAACAGCTTTCTGCCATTTCAAATTGACCACATCAG
GCAGATGGCGTATCAGATCTGCCAGTCAATAAATTTTTTACATCATAATAAATTAACCCATACA
GATCTGAAGCCTGAAAATATTTTGTTTGTGAAGTCTGACTATGTAGTCAAATATAATTCTAAAA
TGAAACGTGATGAACGCACACTGAAAAACACAGATATCAAAGTTGTTGACTTTGGAAGTGCAAC
GTATGATGATGAACATCACAGTACTTTGGTGTCTACCCGGCACTACAGAGCTCCCGAGGTCATT
TTGGCTTTAGGTTGGTCTCAGCCTTGTGATGTTTGGAGCATAGGTTGCATTCTTATTGAATATT
ACCTTGGTTTCACAGTCTTTCAGACTCATGATAGTAAAGAGCACCTGGCAATGATGGAACGAAT
ATTAGGACCCATACCACAACACATGATTCAGAAAACAAGAAAACGCAAGTATTTTCACCATAAC
CAGCTAGATTGGGATGAACACAGTTCTGCTGGTAGATATGTTAGGAGACGCTGCAAACCGTTGA
AGGAATTTATGCTTTGTCATGATGAAGAACATGAGAAACTGTTTGACCTGGTTCGAAGAATGTT
AGAATATGATCCAACTCAAAGAATTACCTTGGATGAAGCATTGCAGCATCCTTTCTTTGACTTA
TTAAAAAAGAAATGAAATGGGAATCAGTGGTCTTACTATATACTTCTCTAGAAGAGATTACTTA
AGACTGTGTCAGTCAACTAAACATTCTAATATTTTTGTAAACATTAAATTATTTTGTACAGTTA
AGTGTAAATATTGTATGTTTTGTATCAATAGCATAATTAACTTGTTAAGCAAGTATGGTCTTGA
TAATGCATTAGAAAAATTAAAATTAATTTTTCTTTTTGAAATTACCATTTTTAAATACCTTTGA
AATATCCTTTGTGTCCAGTGATAAATGTGATTGATCTTGCCTTTTGTACATGGAGGTCACCTCT
GAAGTGATTTTTTTTGAGTAAAAGGAAATCTTGACTACTTTATATTCTTAAAGGAATATTCTTT
ATATACTTCAAATTTAGAACTTAACTTTAAAAGTTTTTCTTCTGTAATTGTTGAACGGGTGATT
ATTATTAACTCTAGATAAGCAGGTACTAGAAACCAAAACTCAGAAAATGTTTACTGTTAGAATT
CTATTAAATTTTAAGTGTTGTATTCTTTTTCATTGGGTGATGTCAGGGTGATAACCAGACATTC
ATGGAAAGGCATGCAGTTTGTCCATTGTGACAGTTTGTTTAATAAAACCACATACACACTTTAT
TTAAGATTAAAATCTAACTGGAAAGTCAGCTTGGAAAATGGACATTTCCAAGTATGTTTGGTGA
GTCACAGATATAAAAATAGAAATTCTGATGAGAGGTTTCAGTTTTTAATACCAAGTCCTTAGGA
GTCTTAACATTGGCCAGCATCTGTTTATCAAATGACATAAATACGTAAACCTATAAGAATTAAG
TTTATTAATTAGGCAATTTATGTCTGTGATAATTCTTACGGGAGAAAGAGGATTTGATTGGAAA
GCAGTTTGGGAAGAAAGTGCTGCTGAAATTTCCAGAATTTAATTGATTGGTTACATAAACTTTT
TGACTTCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_065717	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG10074	(Get FASTA)	NCBI Sequence Viewer
	AAH34633	(Get FASTA)	NCBI Sequence Viewer
	AAH65732	(Get FASTA)	NCBI Sequence Viewer
	AAI36262	(Get FASTA)	NCBI Sequence Viewer
	AAI43548	(Get FASTA)	NCBI Sequence Viewer
	BAH11925	(Get FASTA)	NCBI Sequence Viewer
	BAH14226	(Get FASTA)	NCBI Sequence Viewer
	CAF06457	(Get FASTA)	NCBI Sequence Viewer
	CAH18325	(Get FASTA)	NCBI Sequence Viewer
	EAW53831	(Get FASTA)	NCBI Sequence Viewer
	EAW53832	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000316948
	ENSP00000316948.4
	ENSP00000428651.1
	ENSP00000429195.1
	ENSP00000430216.1
	ENSP00000430892.1
GenBank Protein	Q9HAZ1	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_065717 ⟸ NM_020666

- UniProtKB:

Q9HAZ1 (UniProtKB/Swiss-Prot), B9EG64 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MRHSKRTHCPDWDSRESWGHESYRGSHKRKRRSHSSTQENRHCKPHHQFKESDCHYLEARSLNE
RDYRDRRYVDEYRNDYCEGYVPRHYHRDIESGYRIHCSKSSVRSRRSSPKRKRNRHCSSHQSRS
KSHRRKRSRSIEDDEEGHLICQSGDVLRARYEIVDTLGEGAFGKVVECIDHGMDGMHVAVKIVK
NVGRYREAARSEIQVLEHLNSTDPNSVFRCVQMLEWFDHHGHVCIVFELLGLSTYDFIKENSFL
PFQIDHIRQMAYQICQSINFLHHNKLTHTDLKPENILFVKSDYVVKYNSKMKRDERTLKNTDIK
VVDFGSATYDDEHHSTLVSTRHYRAPEVILALGWSQPCDVWSIGCILIEYYLGFTVFQTHDSKE
HLAMMERILGPIPQHMIQKTRKRKYFHHNQLDWDEHSSAGRYVRRRCKPLKEFMLCHDEEHEKL
FDLVRRMLEYDPTQRITLDEALQHPFFDLLKKK

hide sequence

RefSeq Acc Id:

ENSP00000480792 ⟸ ENST00000611733

RefSeq Acc Id:

ENSP00000479788 ⟸ ENST00000611575

RefSeq Acc Id:

ENSP00000430892 ⟸ ENST00000520957

RefSeq Acc Id:

ENSP00000428651 ⟸ ENST00000521621

RefSeq Acc Id:

ENSP00000429195 ⟸ ENST00000522136

RefSeq Acc Id:

ENSP00000430216 ⟸ ENST00000522556

RefSeq Acc Id:

ENSP00000316948 ⟸ ENST00000316308

Protein Domains

Protein kinase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9HAZ1-F1-model_v2	AlphaFold	Q9HAZ1	1-481	view protein structure

Promoters

RGD ID:

6802964

Promoter ID:

HG_KWN:51960

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000253479, UC003MJG.1, UC003MJH.1, UC010JKU.1, UC010JKV.1, UC010JKW.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	5	177,986,311 - 177,986,811 (-)	MPROMDB

RGD ID:

6871748

Promoter ID:

EPDNEW_H9039

Type:

initiation region

Name:

CLK4_1

Description:

CDC like kinase 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H9040 EPDNEW_H9042

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	178,627,030 - 178,627,090	EPDNEW

RGD ID:

6871750

Promoter ID:

EPDNEW_H9040

Type:

multiple initiation site

Name:

CLK4_3

Description:

CDC like kinase 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H9039 EPDNEW_H9042

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	178,630,616 - 178,630,676	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:13659	AgrOrtholog
COSMIC	CLK4	COSMIC
Ensembl Genes	ENSG00000113240	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000316308	ENTREZGENE
	ENST00000316308.9	UniProtKB/Swiss-Prot
	ENST00000520957.1	UniProtKB/TrEMBL
	ENST00000521621.5	UniProtKB/TrEMBL
	ENST00000522136.5	UniProtKB/TrEMBL
	ENST00000522556.1	UniProtKB/TrEMBL
Gene3D-CATH	Transferase(Phosphotransferase) domain 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000113240	GTEx
HGNC ID	HGNC:13659	ENTREZGENE
Human Proteome Map	CLK4	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:57396	UniProtKB/Swiss-Prot
NCBI Gene	57396	ENTREZGENE
OMIM	607969	OMIM
PANTHER	DUAL SPECIFICITY PROTEIN KINASE CLK4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SERINE/THREONINE-PROTEIN KINASE DOA-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Pkinase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA26598	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	B7ZL31_HUMAN	UniProtKB/TrEMBL
	B9EG64	ENTREZGENE, UniProtKB/TrEMBL
	CLK4_HUMAN	UniProtKB/Swiss-Prot
	E7ES88_HUMAN	UniProtKB/TrEMBL
	E7EWJ6_HUMAN	UniProtKB/TrEMBL
	Q4G0Z5_HUMAN	UniProtKB/TrEMBL
	Q68D95_HUMAN	UniProtKB/TrEMBL
	Q6P090_HUMAN	UniProtKB/TrEMBL
	Q9HAZ1	ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-08	CLK4	CDC like kinase 4	CLK4	CDC-like kinase 4	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