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Gene: CASKIN2 (CASK interacting protein 2) Homo sapiens

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Symbol:

CASKIN2

Name:

CASK interacting protein 2

RGD ID:

1320238

HGNC Page

HGNC:18200

Description:

Predicted to be located in cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ANKS5B; CASK-interacting protein 2; caskin-2; FLJ21609; KIAA1139

RGD Orthologs

Alliance Orthologs

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):	Caskin2 (CASK-interacting protein 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Caskin2 (cask-interacting protein 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Caskin2 (CASK interacting protein 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CASKIN2 (CASK interacting protein 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	CASKIN2 (CASK interacting protein 2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Caskin2 (CASK interacting protein 2)	NCBI	Ortholog
Sus scrofa (pig):	CASKIN2 (CASK interacting protein 2)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	CASKIN2 (CASK interacting protein 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Caskin2 (CASK interacting protein 2)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Caskin1 (CASK interacting protein 1)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Caskin2 (cask-interacting protein 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Caskin2 (CASK-interacting protein 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	si:ch211-119c20.2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	C46H3.2	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|SonicParanoid)
Drosophila melanogaster (fruit fly):	ckn	Alliance	DIOPT (Hieranoid\|OrthoFinder)
Xenopus laevis (African clawed frog):	caskin2.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	caskin2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	klhl17	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	caskin2.L	Alliance	DIOPT (Xenbase)

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	17	75,500,261 - 75,515,537 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	75,500,261 - 75,515,537 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	73,496,342 - 73,511,618 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	71,007,937 - 71,023,222 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	71,007,936 - 71,023,222	NCBI
Celera	17	70,090,213 - 70,105,647 (-)	NCBI		Celera
Cytogenetic Map	17	q25.1	NCBI
HuRef	17	68,919,898 - 68,935,321 (-)	NCBI		HuRef
CHM1_1	17	73,561,385 - 73,576,701 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	76,393,591 - 76,408,903 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

amiodarone (EXP)

aristolochic acid A (EXP)

arsenous acid (EXP)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

butanal (EXP)

C60 fullerene (ISO)

caffeine (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

cisplatin (EXP)

clobetasol (ISO)

copper(II) sulfate (EXP)

coumarin (EXP)

cyclosporin A (ISO)

DDE (EXP)

diarsenic trioxide (EXP)

diazinon (EXP)

dicrotophos (EXP)

doxorubicin (EXP)

ethanol (ISO)

fenamidone (ISO)

folic acid (ISO)

FR900359 (EXP)

gentamycin (ISO)

ozone (ISO)

paracetamol (EXP,ISO)

pirinixic acid (ISO)

quercetin (EXP)

raloxifene (EXP)

resveratrol (EXP)

serpentine asbestos (EXP)

tamoxifen (EXP,ISO)

testosterone (EXP)

titanium dioxide (EXP,ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

cytoplasm (IEA,ISS)

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
3.	CASK participates in alternative tripartite complexes in which Mint 1 competes for binding with caskin 1, a novel CASK-binding protein.	Tabuchi K, etal., J Neurosci 2002 Jun 1;22(11):4264-73.

Additional References at PubMed

PMID:10574461	PMID:12477932	PMID:15489334	PMID:15592455	PMID:16094384	PMID:16344560	PMID:17081983	PMID:19531213	PMID:21805519	PMID:21873635	PMID:25468996	PMID:26186194
PMID:26972000	PMID:27619958	PMID:27880917	PMID:28514442	PMID:28986522	PMID:29507755	PMID:29509190	PMID:29778605	PMID:30639242	PMID:31871319	PMID:33957083	PMID:33961781
PMID:34079125	PMID:34316702	PMID:34702444	PMID:35384245	PMID:36215168	PMID:36543142	PMID:36931259	PMID:37468549	PMID:38117590	PMID:38587458	PMID:38777146

Genomics

Comparative Map Data

CASKIN2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	75,500,261 - 75,515,537 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	75,500,261 - 75,515,537 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	73,496,342 - 73,511,618 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	71,007,937 - 71,023,222 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	71,007,936 - 71,023,222	NCBI
Celera	17	70,090,213 - 70,105,647 (-)	NCBI		Celera
Cytogenetic Map	17	q25.1	NCBI
HuRef	17	68,919,898 - 68,935,321 (-)	NCBI		HuRef
CHM1_1	17	73,561,385 - 73,576,701 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	76,393,591 - 76,408,903 (-)	NCBI		T2T-CHM13v2.0

Caskin2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	115,689,813 - 115,704,517 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	115,690,009 - 115,704,465 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	115,798,987 - 115,813,658 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	115,799,183 - 115,813,639 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	115,660,666 - 115,674,906 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	115,615,442 - 115,629,682 (-)	NCBI		MGSCv36	mm8
Celera	11	127,559,867 - 127,574,108 (-)	NCBI		Celera
Cytogenetic Map	11	E2	NCBI
cM Map	11	80.91	NCBI

Caskin2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	101,526,131 - 101,540,362 (-)	NCBI		GRCr8
mRatBN7.2	10	101,027,196 - 101,041,429 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	101,027,260 - 101,041,414 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	106,089,068 - 106,103,229 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	105,552,151 - 105,566,312 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	100,948,219 - 100,962,373 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	104,344,035 - 104,358,256 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	104,344,099 - 104,358,253 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	103,927,765 - 103,941,988 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	105,901,164 - 105,915,318 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	105,915,603 - 105,928,890 (-)	NCBI
Celera	10	99,602,273 - 99,616,427 (-)	NCBI		Celera
Cytogenetic Map	10	q32.1	NCBI

Caskin2
(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_004955553	2,353,767 - 2,367,352 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955553	2,353,767 - 2,367,357 (-)	NCBI	ChiLan1.0	ChiLan1.0

CASKIN2
(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	19	91,543,123 - 91,558,672 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	96,365,471 - 96,380,947 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	69,449,908 - 69,465,387 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	75,000,777 - 75,016,002 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	75,001,600 - 75,014,279 (-)	Ensembl	panpan1.1		panPan2

CASKIN2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	5,008,645 - 5,031,647 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	5,010,833 - 5,031,871 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	5,688,103 - 5,711,217 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	5,678,880 - 5,702,001 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	5,687,865 - 5,701,983 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	5,718,009 - 5,741,103 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	5,828,179 - 5,851,253 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	5,889,259 - 5,912,363 (+)	NCBI		UU_Cfam_GSD_1.0

Caskin2
(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_024405602	5,668,482 - 5,682,056 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936594	726,692 - 743,514 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936594	729,903 - 743,433 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CASKIN2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	5,855,968 - 5,870,554 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	5,855,874 - 5,870,327 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

CASKIN2
(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	16	46,162,457 - 46,178,430 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	46,164,117 - 46,177,606 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	16,927,966 - 16,943,997 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Caskin2
(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_004624801	5,306,404 - 5,320,232 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624801	5,306,404 - 5,320,333 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CASKIN2
132 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	copy number gain	See cases [RCV000052486]	Chr17:69209079..83086677 [GRCh38] Chr17:67205220..81044553 [GRCh37] Chr17:64716815..78637842 [NCBI36] Chr17:17q24.3-25.3	pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]\|See cases [RCV000052483]	Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3	pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	copy number gain	See cases [RCV000143342]	Chr17:69916435..83102552 [GRCh38] Chr17:67912576..81048189 [GRCh37] Chr17:65424171..78653717 [NCBI36] Chr17:17q24.3-25.3	pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3	copy number gain	See cases [RCV000447577]	Chr17:64241326..81041938 [GRCh37] Chr17:17q24.2-25.3	pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	copy number gain	See cases [RCV000447823]	Chr17:42580684..81085615 [GRCh37] Chr17:17q21.31-25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
NM_020753.5(CASKIN2):c.1923G>C (p.Lys641Asn)	single nucleotide variant	not specified [RCV004316310]	Chr17:75503151 [GRCh38] Chr17:73499232 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1753G>A (p.Asp585Asn)	single nucleotide variant	not specified [RCV004296913]	Chr17:75503455 [GRCh38] Chr17:73499536 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1477G>A (p.Ala493Thr)	single nucleotide variant	not specified [RCV004319019]	Chr17:75503953 [GRCh38] Chr17:73500034 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2387G>A (p.Arg796His)	single nucleotide variant	not specified [RCV004327961]	Chr17:75502687 [GRCh38] Chr17:73498768 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3	copy number gain	not provided [RCV000585184]	Chr17:72901452..73518861 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	copy number gain	See cases [RCV000512573]	Chr17:67002415..81041938 [GRCh37] Chr17:17q24.2-25.3	pathogenic
GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3	copy number gain	not provided [RCV000683962]	Chr17:73414856..74037715 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	copy number gain	not provided [RCV000683952]	Chr17:63689671..81041938 [GRCh37] Chr17:17q24.1-25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q25.1(chr17:73495025-73500739)x1	copy number loss	not provided [RCV000739671]	Chr17:73495025..73500739 [GRCh37] Chr17:17q25.1	benign
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	copy number gain	not provided [RCV000762750]	Chr17:64159738..74891024 [GRCh37] Chr17:17q24.1-25.2	likely pathogenic
NM_020753.5(CASKIN2):c.2714G>A (p.Arg905Gln)	single nucleotide variant	not specified [RCV004294020]	Chr17:75502360 [GRCh38] Chr17:73498441 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1295T>G (p.Leu432Arg)	single nucleotide variant	not specified [RCV004322428]	Chr17:75504591 [GRCh38] Chr17:73500672 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1467+8C>A	single nucleotide variant	not provided [RCV000950004]	Chr17:75504207 [GRCh38] Chr17:73500288 [GRCh37] Chr17:17q25.1	benign
NM_020753.5(CASKIN2):c.1187G>A (p.Ser396Asn)	single nucleotide variant	not specified [RCV004309654]	Chr17:75504817 [GRCh38] Chr17:73500898 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2786C>T (p.Thr929Met)	single nucleotide variant	not specified [RCV004304306]	Chr17:75502288 [GRCh38] Chr17:73498369 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	copy number gain	not provided [RCV000849900]	Chr17:62778720..81041938 [GRCh37] Chr17:17q24.1-25.3	pathogenic
GRCh37/hg19 17q25.1(chr17:73413448-73568196)x1	copy number loss	not provided [RCV000847285]	Chr17:73413448..73568196 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3077C>T (p.Thr1026Ile)	single nucleotide variant	not specified [RCV004313638]	Chr17:75501997 [GRCh38] Chr17:73498078 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2554G>A (p.Gly852Arg)	single nucleotide variant	not specified [RCV004291737]	Chr17:75502520 [GRCh38] Chr17:73498601 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	copy number gain	not provided [RCV001006919]	Chr17:73261871..78608763 [GRCh37] Chr17:17q25.1-25.3	pathogenic
GRCh37/hg19 17q25.1(chr17:73049227-73533226)	copy number loss	not specified [RCV002052605]	Chr17:73049227..73533226 [GRCh37] Chr17:17q25.1	uncertain significance
NC_000017.10:g.(?_73204602)_(73515148_?)dup	duplication	not provided [RCV001888427]	Chr17:73204602..73515148 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	copy number gain	not provided [RCV002276051]	Chr17:73481509..81043199 [GRCh37] Chr17:17q25.1-25.3	pathogenic
NM_020753.5(CASKIN2):c.2381C>T (p.Pro794Leu)	single nucleotide variant	not specified [RCV004327269]	Chr17:75502693 [GRCh38] Chr17:73498774 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3079C>T (p.Pro1027Ser)	single nucleotide variant	not specified [RCV004146745]	Chr17:75501995 [GRCh38] Chr17:73498076 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3260C>T (p.Ala1087Val)	single nucleotide variant	not specified [RCV004194479]	Chr17:75501814 [GRCh38] Chr17:73497895 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.31G>A (p.Val11Ile)	single nucleotide variant	not specified [RCV004086759]	Chr17:75513774 [GRCh38] Chr17:73509855 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.447G>C (p.Lys149Asn)	single nucleotide variant	not specified [RCV004117985]	Chr17:75506838 [GRCh38] Chr17:73502919 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1165C>T (p.Arg389Trp)	single nucleotide variant	not specified [RCV004124867]	Chr17:75504839 [GRCh38] Chr17:73500920 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2935G>A (p.Gly979Ser)	single nucleotide variant	not specified [RCV004191668]	Chr17:75502139 [GRCh38] Chr17:73498220 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.534G>C (p.Glu178Asp)	single nucleotide variant	not specified [RCV004221690]	Chr17:75506666 [GRCh38] Chr17:73502747 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2950C>T (p.Leu984Phe)	single nucleotide variant	not specified [RCV004106344]	Chr17:75502124 [GRCh38] Chr17:73498205 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.883C>G (p.Leu295Val)	single nucleotide variant	not specified [RCV004218382]	Chr17:75505604 [GRCh38] Chr17:73501685 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.907G>A (p.Val303Ile)	single nucleotide variant	not specified [RCV004128962]	Chr17:75505580 [GRCh38] Chr17:73501661 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2080C>T (p.Arg694Cys)	single nucleotide variant	not specified [RCV004192918]	Chr17:75502994 [GRCh38] Chr17:73499075 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1945G>A (p.Glu649Lys)	single nucleotide variant	not specified [RCV004216483]	Chr17:75503129 [GRCh38] Chr17:73499210 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2494C>T (p.Arg832Trp)	single nucleotide variant	not specified [RCV004210457]	Chr17:75502580 [GRCh38] Chr17:73498661 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.142G>A (p.Asp48Asn)	single nucleotide variant	not specified [RCV004093404]	Chr17:75508238 [GRCh38] Chr17:73504319 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.238A>G (p.Ser80Gly)	single nucleotide variant	not specified [RCV004150533]	Chr17:75507590 [GRCh38] Chr17:73503671 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1442G>A (p.Arg481Gln)	single nucleotide variant	not specified [RCV004114093]	Chr17:75504240 [GRCh38] Chr17:73500321 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3317C>T (p.Ser1106Leu)	single nucleotide variant	not specified [RCV004143650]	Chr17:75501669 [GRCh38] Chr17:73497750 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3262G>A (p.Ala1088Thr)	single nucleotide variant	not specified [RCV004197172]	Chr17:75501812 [GRCh38] Chr17:73497893 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.863C>T (p.Ala288Val)	single nucleotide variant	not specified [RCV004230032]	Chr17:75505624 [GRCh38] Chr17:73501705 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2111G>A (p.Arg704His)	single nucleotide variant	not specified [RCV004163912]	Chr17:75502963 [GRCh38] Chr17:73499044 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2899G>A (p.Ala967Thr)	single nucleotide variant	not specified [RCV004247165]	Chr17:75502175 [GRCh38] Chr17:73498256 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.581A>G (p.His194Arg)	single nucleotide variant	not specified [RCV004175580]	Chr17:75506619 [GRCh38] Chr17:73502700 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1744A>G (p.Ser582Gly)	single nucleotide variant	not specified [RCV004131882]	Chr17:75503464 [GRCh38] Chr17:73499545 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2651C>T (p.Pro884Leu)	single nucleotide variant	not specified [RCV004088719]	Chr17:75502423 [GRCh38] Chr17:73498504 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2590C>T (p.Arg864Trp)	single nucleotide variant	not specified [RCV004097088]	Chr17:75502484 [GRCh38] Chr17:73498565 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3359C>T (p.Ala1120Val)	single nucleotide variant	not specified [RCV004153364]	Chr17:75501627 [GRCh38] Chr17:73497708 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2180C>A (p.Pro727His)	single nucleotide variant	not specified [RCV004234953]	Chr17:75502894 [GRCh38] Chr17:73498975 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2504G>A (p.Arg835His)	single nucleotide variant	not specified [RCV004226834]	Chr17:75502570 [GRCh38] Chr17:73498651 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1910G>A (p.Arg637His)	single nucleotide variant	not specified [RCV004163945]	Chr17:75503164 [GRCh38] Chr17:73499245 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3118G>A (p.Glu1040Lys)	single nucleotide variant	not specified [RCV004069150]	Chr17:75501956 [GRCh38] Chr17:73498037 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1409G>A (p.Arg470His)	single nucleotide variant	not specified [RCV004074925]	Chr17:75504273 [GRCh38] Chr17:73500354 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2669A>T (p.Asp890Val)	single nucleotide variant	not specified [RCV004098284]	Chr17:75502405 [GRCh38] Chr17:73498486 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2827C>T (p.Arg943Trp)	single nucleotide variant	not specified [RCV004208839]	Chr17:75502247 [GRCh38] Chr17:73498328 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3595G>T (p.Ala1199Ser)	single nucleotide variant	not specified [RCV004157971]	Chr17:75501094 [GRCh38] Chr17:73497175 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2005G>A (p.Gly669Ser)	single nucleotide variant	not specified [RCV004155683]	Chr17:75503069 [GRCh38] Chr17:73499150 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3013G>A (p.Ala1005Thr)	single nucleotide variant	not specified [RCV004159880]	Chr17:75502061 [GRCh38] Chr17:73498142 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3077C>A (p.Thr1026Asn)	single nucleotide variant	not specified [RCV004078333]	Chr17:75501997 [GRCh38] Chr17:73498078 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2263G>A (p.Val755Ile)	single nucleotide variant	not specified [RCV004214749]	Chr17:75502811 [GRCh38] Chr17:73498892 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1921A>G (p.Lys641Glu)	single nucleotide variant	not specified [RCV004117687]	Chr17:75503153 [GRCh38] Chr17:73499234 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1112C>G (p.Pro371Arg)	single nucleotide variant	not specified [RCV004198684]	Chr17:75504892 [GRCh38] Chr17:73500973 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1892C>T (p.Ala631Val)	single nucleotide variant	not specified [RCV004163583]	Chr17:75503182 [GRCh38] Chr17:73499263 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2594G>A (p.Arg865His)	single nucleotide variant	not specified [RCV004095510]	Chr17:75502480 [GRCh38] Chr17:73498561 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2101A>T (p.Ile701Phe)	single nucleotide variant	not specified [RCV004231683]	Chr17:75502973 [GRCh38] Chr17:73499054 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2663C>G (p.Pro888Arg)	single nucleotide variant	not specified [RCV004099532]	Chr17:75502411 [GRCh38] Chr17:73498492 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2519G>A (p.Arg840Gln)	single nucleotide variant	not specified [RCV004097813]	Chr17:75502555 [GRCh38] Chr17:73498636 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3043A>G (p.Thr1015Ala)	single nucleotide variant	not specified [RCV004215842]	Chr17:75502031 [GRCh38] Chr17:73498112 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1064G>A (p.Arg355His)	single nucleotide variant	not specified [RCV004205877]	Chr17:75504940 [GRCh38] Chr17:73501021 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.382T>C (p.Tyr128His)	single nucleotide variant	not specified [RCV004171000]	Chr17:75506992 [GRCh38] Chr17:73503073 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1337A>G (p.Asp446Gly)	single nucleotide variant	not specified [RCV004177353]	Chr17:75504458 [GRCh38] Chr17:73500539 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3286C>T (p.Pro1096Ser)	single nucleotide variant	not specified [RCV004194018]	Chr17:75501788 [GRCh38] Chr17:73497869 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3257C>T (p.Pro1086Leu)	single nucleotide variant	not specified [RCV004123628]	Chr17:75501817 [GRCh38] Chr17:73497898 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3364C>T (p.Arg1122Trp)	single nucleotide variant	not specified [RCV004093707]	Chr17:75501622 [GRCh38] Chr17:73497703 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2824T>C (p.Ser942Pro)	single nucleotide variant	not specified [RCV004096169]	Chr17:75502250 [GRCh38] Chr17:73498331 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3565A>G (p.Met1189Val)	single nucleotide variant	not specified [RCV004086828]	Chr17:75501124 [GRCh38] Chr17:73497205 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1871G>A (p.Arg624Gln)	single nucleotide variant	not specified [RCV004131687]	Chr17:75503203 [GRCh38] Chr17:73499284 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.410A>G (p.His137Arg)	single nucleotide variant	not specified [RCV004285221]	Chr17:75506875 [GRCh38] Chr17:73502956 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2552G>A (p.Arg851Gln)	single nucleotide variant	not specified [RCV004250442]	Chr17:75502522 [GRCh38] Chr17:73498603 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2239C>A (p.Pro747Thr)	single nucleotide variant	not specified [RCV004272782]	Chr17:75502835 [GRCh38] Chr17:73498916 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.737A>G (p.Asp246Gly)	single nucleotide variant	not specified [RCV004264931]	Chr17:75505919 [GRCh38] Chr17:73502000 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2378G>A (p.Arg793Gln)	single nucleotide variant	not specified [RCV004330946]	Chr17:75502696 [GRCh38] Chr17:73498777 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2507G>A (p.Ser836Asn)	single nucleotide variant	not specified [RCV004278058]	Chr17:75502567 [GRCh38] Chr17:73498648 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1831A>C (p.Lys611Gln)	single nucleotide variant	not specified [RCV004283136]	Chr17:75503243 [GRCh38] Chr17:73499324 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2402T>A (p.Leu801Gln)	single nucleotide variant	not specified [RCV004278813]	Chr17:75502672 [GRCh38] Chr17:73498753 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2297C>T (p.Pro766Leu)	single nucleotide variant	not specified [RCV004249391]	Chr17:75502777 [GRCh38] Chr17:73498858 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1408C>T (p.Arg470Cys)	single nucleotide variant	not specified [RCV004290994]	Chr17:75504274 [GRCh38] Chr17:73500355 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17q25.1(chr17:72718277-74142256)	copy number gain	7q11.23 microduplication syndrome [RCV003325440]	Chr17:72718277..74142256 [GRCh37] Chr17:17q25.1	pathogenic
NM_020753.5(CASKIN2):c.2537C>T (p.Thr846Ile)	single nucleotide variant	not specified [RCV004339450]	Chr17:75502537 [GRCh38] Chr17:73498618 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2212C>T (p.Arg738Trp)	single nucleotide variant	not specified [RCV004362254]	Chr17:75502862 [GRCh38] Chr17:73498943 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.649C>T (p.Arg217Cys)	single nucleotide variant	not specified [RCV004336953]	Chr17:75506382 [GRCh38] Chr17:73502463 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1987C>T (p.Arg663Trp)	single nucleotide variant	not specified [RCV004336262]	Chr17:75503087 [GRCh38] Chr17:73499168 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2563C>T (p.Arg855Cys)	single nucleotide variant	not specified [RCV004355130]	Chr17:75502511 [GRCh38] Chr17:73498592 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	copy number gain	not provided [RCV003485164]	Chr17:73264158..74039659 [GRCh37] Chr17:17q25.1	uncertain significance
GRCh37/hg19 17q25.1(chr17:73259444-73533226)x3	copy number gain	not provided [RCV003485163]	Chr17:73259444..73533226 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1468-4G>A	single nucleotide variant	not provided [RCV003413337]	Chr17:75503966 [GRCh38] Chr17:73500047 [GRCh37] Chr17:17q25.1	likely benign
GRCh37/hg19 17q25.1(chr17:73281839-73568196)x1	copy number loss	not specified [RCV003987262]	Chr17:73281839..73568196 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1105C>T (p.Arg369Trp)	single nucleotide variant	not specified [RCV004427355]	Chr17:75504899 [GRCh38] Chr17:73500980 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1781C>A (p.Thr594Asn)	single nucleotide variant	not specified [RCV004427360]	Chr17:75503427 [GRCh38] Chr17:73499508 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1744A>T (p.Ser582Cys)	single nucleotide variant	not specified [RCV004427359]	Chr17:75503464 [GRCh38] Chr17:73499545 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1076C>T (p.Ala359Val)	single nucleotide variant	not specified [RCV004427354]	Chr17:75504928 [GRCh38] Chr17:73501009 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1364C>T (p.Pro455Leu)	single nucleotide variant	not specified [RCV004427356]	Chr17:75504431 [GRCh38] Chr17:73500512 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1654G>A (p.Ala552Thr)	single nucleotide variant	not specified [RCV004427358]	Chr17:75503685 [GRCh38] Chr17:73499766 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2767G>C (p.Ala923Pro)	single nucleotide variant	not specified [RCV004429853]	Chr17:75502307 [GRCh38] Chr17:73498388 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3169C>T (p.Pro1057Ser)	single nucleotide variant	not specified [RCV004429859]	Chr17:75501905 [GRCh38] Chr17:73497986 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3541C>T (p.His1181Tyr)	single nucleotide variant	not specified [RCV004429863]	Chr17:75501148 [GRCh38] Chr17:73497229 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.811C>T (p.Arg271Trp)	single nucleotide variant	not specified [RCV004429868]	Chr17:75505845 [GRCh38] Chr17:73501926 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2254C>T (p.Pro752Ser)	single nucleotide variant	not specified [RCV004429845]	Chr17:75502820 [GRCh38] Chr17:73498901 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2452C>T (p.Pro818Ser)	single nucleotide variant	not specified [RCV004429850]	Chr17:75502622 [GRCh38] Chr17:73498703 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3191C>T (p.Pro1064Leu)	single nucleotide variant	not specified [RCV004429860]	Chr17:75501883 [GRCh38] Chr17:73497964 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3260C>G (p.Ala1087Gly)	single nucleotide variant	not specified [RCV004429861]	Chr17:75501814 [GRCh38] Chr17:73497895 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.740T>C (p.Val247Ala)	single nucleotide variant	not specified [RCV004429866]	Chr17:75505916 [GRCh38] Chr17:73501997 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.749G>A (p.Arg250Gln)	single nucleotide variant	not specified [RCV004429867]	Chr17:75505907 [GRCh38] Chr17:73501988 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3091C>T (p.Pro1031Ser)	single nucleotide variant	not specified [RCV004429857]	Chr17:75501983 [GRCh38] Chr17:73498064 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.739G>A (p.Val247Met)	single nucleotide variant	not specified [RCV004429865]	Chr17:75505917 [GRCh38] Chr17:73501998 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1867C>T (p.Arg623Trp)	single nucleotide variant	not specified [RCV004429842]	Chr17:75503207 [GRCh38] Chr17:73499288 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2045G>A (p.Gly682Glu)	single nucleotide variant	not specified [RCV004429843]	Chr17:75503029 [GRCh38] Chr17:73499110 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2060C>G (p.Pro687Arg)	single nucleotide variant	not specified [RCV004429844]	Chr17:75503014 [GRCh38] Chr17:73499095 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.374A>T (p.Tyr125Phe)	single nucleotide variant	not specified [RCV004429864]	Chr17:75507000 [GRCh38] Chr17:73503081 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2963A>G (p.Asp988Gly)	single nucleotide variant	not specified [RCV004429854]	Chr17:75502111 [GRCh38] Chr17:73498192 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3079C>G (p.Pro1027Ala)	single nucleotide variant	not specified [RCV004429855]	Chr17:75501995 [GRCh38] Chr17:73498076 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2320G>A (p.Ala774Thr)	single nucleotide variant	not specified [RCV004429848]	Chr17:75502754 [GRCh38] Chr17:73498835 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2407C>T (p.Arg803Cys)	single nucleotide variant	not specified [RCV004429849]	Chr17:75502667 [GRCh38] Chr17:73498748 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2650C>T (p.Pro884Ser)	single nucleotide variant	not specified [RCV004429852]	Chr17:75502424 [GRCh38] Chr17:73498505 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.308G>A (p.Arg103His)	single nucleotide variant	not specified [RCV004429856]	Chr17:75507066 [GRCh38] Chr17:73503147 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3370G>A (p.Gly1124Ser)	single nucleotide variant	not specified [RCV004429862]	Chr17:75501616 [GRCh38] Chr17:73497697 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.832C>T (p.Arg278Trp)	single nucleotide variant	not specified [RCV004429869]	Chr17:75505824 [GRCh38] Chr17:73501905 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.3529G>A (p.Ala1177Thr)	single nucleotide variant	not specified [RCV004600978]	Chr17:75501160 [GRCh38] Chr17:73497241 [GRCh37] Chr17:17q25.1	likely benign
NM_020753.5(CASKIN2):c.53G>T (p.Gly18Val)	single nucleotide variant	not specified [RCV004600986]	Chr17:75513752 [GRCh38] Chr17:73509833 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1091G>A (p.Arg364His)	single nucleotide variant	not specified [RCV004600975]	Chr17:75504913 [GRCh38] Chr17:73500994 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.905A>G (p.Asn302Ser)	single nucleotide variant	not specified [RCV004600981]	Chr17:75505582 [GRCh38] Chr17:73501663 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2975G>A (p.Arg992Gln)	single nucleotide variant	not specified [RCV004600973]	Chr17:75502099 [GRCh38] Chr17:73498180 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1906G>A (p.Gly636Arg)	single nucleotide variant	not specified [RCV004600974]	Chr17:75503168 [GRCh38] Chr17:73499249 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1016C>T (p.Pro339Leu)	single nucleotide variant	not specified [RCV004600977]	Chr17:75504988 [GRCh38] Chr17:73501069 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2776G>A (p.Ala926Thr)	single nucleotide variant	not specified [RCV004600982]	Chr17:75502298 [GRCh38] Chr17:73498379 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1549G>A (p.Val517Met)	single nucleotide variant	not specified [RCV004600983]	Chr17:75503881 [GRCh38] Chr17:73499962 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2833A>G (p.Ser945Gly)	single nucleotide variant	not specified [RCV004600987]	Chr17:75502241 [GRCh38] Chr17:73498322 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1108A>T (p.Thr370Ser)	single nucleotide variant	not specified [RCV004600988]	Chr17:75504896 [GRCh38] Chr17:73500977 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2906C>T (p.Pro969Leu)	single nucleotide variant	not specified [RCV004607336]	Chr17:75502168 [GRCh38] Chr17:73498249 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.563A>G (p.Asn188Ser)	single nucleotide variant	not specified [RCV004607338]	Chr17:75506637 [GRCh38] Chr17:73502718 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2693G>A (p.Gly898Glu)	single nucleotide variant	not specified [RCV004600980]	Chr17:75502381 [GRCh38] Chr17:73498462 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.7C>G (p.Arg3Gly)	single nucleotide variant	not specified [RCV004600984]	Chr17:75513798 [GRCh38] Chr17:73509879 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2179C>G (p.Pro727Ala)	single nucleotide variant	not specified [RCV004600976]	Chr17:75502895 [GRCh38] Chr17:73498976 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.1112C>T (p.Pro371Leu)	single nucleotide variant	not specified [RCV004600985]	Chr17:75504892 [GRCh38] Chr17:73500973 [GRCh37] Chr17:17q25.1	uncertain significance
NM_020753.5(CASKIN2):c.2842G>A (p.Glu948Lys)	single nucleotide variant	not specified [RCV004600979]	Chr17:75502232 [GRCh38] Chr17:73498313 [GRCh37] Chr17:17q25.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2372
Count of miRNA genes:	896
Interacting mature miRNAs:	1090
Transcripts:	ENST00000321617, ENST00000433559, ENST00000580021, ENST00000580075, ENST00000581870, ENST00000583246, ENST00000583258
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
406947393	GWAS596369_H	PR interval QTL GWAS596369 (human)		5e-08	PR interval	PR interval (CMO:0000233)	17	75509091	75509092	Human
597124315	GWAS1220389_H	calcium measurement QTL GWAS1220389 (human)		3e-08	calcium measurement	blood calcium level (CMO:0000502)	17	75507408	75507409	Human

Markers in Region

RH25408

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	73,495,937 - 73,496,038	UniSTS	GRCh37
Build 36	17	71,007,532 - 71,007,633	RGD	NCBI36
Celera	17	70,089,808 - 70,089,909	RGD
Cytogenetic Map	17	q25.1	UniSTS
HuRef	17	68,919,494 - 68,919,595	UniSTS

SHGC-148423

Human Assembly	Chr	Position (strand)	Source
Celera	17	70,098,801 - 70,099,103	RGD
Cytogenetic Map	17	q25.1	UniSTS
TNG Radiation Hybrid Map	17	33609.0	UniSTS

RH71445

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	73,495,944 - 73,496,083	UniSTS	GRCh37
Build 36	17	71,007,539 - 71,007,678	RGD	NCBI36
Celera	17	70,089,815 - 70,089,954	RGD
Cytogenetic Map	17	q25.1	UniSTS
HuRef	17	68,919,501 - 68,919,640	UniSTS
GeneMap99-GB4 RH Map	17	479.72	UniSTS
NCBI RH Map	17	764.0	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2438	2788	2253	4972	1726	2351	5	624	1939	465	2269	7292	6459	52	3733	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_033152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001142643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_020753	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047436459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054316745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB032965	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC100787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF451976	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315936	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC032359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC066643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM994645	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA105579	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA336467	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA538297	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC318119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000321617 ⟹ ENSP00000325355

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	75,500,261 - 75,515,537 (-)	Ensembl

Ensembl Acc Id:

ENST00000433559 ⟹ ENSP00000406963

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	75,500,809 - 75,509,888 (-)	Ensembl

Ensembl Acc Id:

ENST00000580021

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	75,503,090 - 75,503,940 (-)	Ensembl

Ensembl Acc Id:

ENST00000580075 ⟹ ENSP00000463211

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	75,513,728 - 75,515,260 (-)	Ensembl

Ensembl Acc Id:

ENST00000581870 ⟹ ENSP00000464300

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	75,505,319 - 75,515,440 (-)	Ensembl

Ensembl Acc Id:

ENST00000583246

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	75,506,743 - 75,507,635 (-)	Ensembl

Ensembl Acc Id:

ENST00000583258

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	75,506,667 - 75,507,851 (-)	Ensembl

RefSeq Acc Id:

NM_001142643 ⟹ NP_001136115

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	75,500,261 - 75,509,890 (-)	NCBI
GRCh37	17	73,496,341 - 73,511,664 (-)	NCBI
Celera	17	70,090,213 - 70,105,647 (-)	RGD
HuRef	17	68,919,898 - 68,935,321 (-)	NCBI
CHM1_1	17	73,561,385 - 73,571,013 (-)	NCBI
T2T-CHM13v2.0	17	76,393,591 - 76,403,262 (-)	NCBI

Sequence:

show sequence

CATTGTCCTGCTCCTCTCGGGAGGGACTGCATCCCGCCACCCAGCTGCCTCATCCCAAACTGTC
CAGGCTGTTGGAAGAGGAGGGCTAATGGAAGAGTGGGCAGCTTGAAGGGTGCTCTGTGTCTCTT
CCCTGCTGACCGCATTGTCTCCACTGGGGCTCAGAGAGAGCTCCTGGGCTCCACAAAGAGGCTC
AACGTGAACTACCAGGATGCTGATGGATTCTCTGCCCTCCACCACGCTGCTTTGGGGGGCAGCC
TGGAGCTCATAGCCTTGCTGCTAGAGGCTCAGGCCACTGTTGACATCAAGGACAGCAATGGCAT
GCGCCCGCTGCACTACGCAGCCTGGCAGGGCCGGCTGGAGCCTGTGAGGCTGCTGCTGCGCGCC
TCTGCGGCTGTCAATGCCGCCTCGCTGGACGGACAGATCCCCCTGCACCTGGCTGCACAGTATG
GACATTATGAGGTGTCAGAAATGCTCCTCCAGCATCAGTCCAACCCATGCCTGGTCAACAAGGC
CAAGAAGACGCCCCTGGACCTGGCCTGTGAATTTGGCCGACTCAAGGTGGCCCAGCTGCTTCTG
AACAGCCACTTATGTGTGGCACTGCTGGAGGGTGAGGCCAAAGACCCGTGTGACCCCAACTACA
CCACGCCCCTGCACTTGGCTGCCAAGAATGGCCACAGAGAAGTCATCAGGCAGCTCCTGAGAGC
TGGGATCGAGATCAACCGCCAGACCAAGACGGGTACGGCGCTCCACGAGGCCGCACTGTATGGC
AAGACCGAGGTGGTGCGGCTGCTTCTGGAGGGAGGTGTGGACGTGAACATCCGGAATACGTATA
ACCAGACGGCGCTGGACATAGTGAATCAGTTCACCACCTCCCAGGCCAGCCGGGAAATCAAGCA
GCTACTGCGGGAGGCCTCAGGGATCCTGAAGGTCCGAGCGCTCAAGGATTTCTGGAACCTCCAC
GATCCCACTGCTCTCAATGTCCGGGCAGGGGATGTCATCACGGTGCTAGAACAGCATCCCGACG
GCCGCTGGAAGGGCCACATCCACGAGAGCCAGAGGGGCACAGACCGCATAGGCTACTTCCCCCC
GGGCATTGTCGAGGTGGTCAGCAAGCGGGTGGGCATCCCTGCAGCCCGCCTCCCCTCCGCACCC
ACCCCCCTGCGCCCAGGCTTCTCCCGGACACCGCAGCCTCCTGCCGAAGAACCCCCGCACCCTC
TTACCTACAGCCAGCTTCCTCGGGTGGGCCTCAGCCCAGACAGCCCAGCAGGTGACAGGAATAG
TGTGGGCAGTGAGGGCAGCGTGGGCAGCATCCGCAGTGCCGGCAGCGGGCAGAGCTCTGAGGGC
ACTAATGGCCATGGCCCTGGCCTCCTGATTGAGAACGCCCAGCCACTGCCCTCTGCTGGAGAGG
ACCAGGTGCTGCCAGGACTCCACCCGCCGTCCCTGGCAGACAACCTGAGCCACCGCCCTCTGGC
CAACTGCCGCTCTGGGGAGCAGATCTTCACCCAGGACGTGCGGCCAGAACAGCTGCTGGAGGGG
AAGGACGCGCAGGCCATTCATAACTGGCTAAGCGAGTTCCAGCTGGAGGGCTACACTGCCCACT
TTCTGCAGGCCGGCTATGATGTGCCTACCATCAGCCGCATGACACCTGAGGACCTGACGGCCAT
CGGGGTGACCAAGCCTGGGCACAGGAAGAAGATCGCCTCAGAGATCGCTCAGCTCAGCATCGCC
GAGTGGCTGCCCAGCTACATCCCAACGGACCTGCTGGAGTGGCTGTGTGCACTGGGGCTGCCAC
AGTACCACAAGCAGCTGGTGAGCAGCGGCTACGACTCCATGGGGCTGGTGGCCGACCTCACCTG
GGAGGAGCTGCAGGAGATTGGGGTCAACAAGCTCGGGCATCAGAAGAAGCTCATGCTGGGGGTG
AAGCGGCTGGCGGAGCTTCGGCGGGGCCTGCTGCAGGGGGAGGCCCTCAGCGAAGGCGGGCGCC
GGCTGGCCAAGGGTCCGGAGCTGATGGCCATCGAGGGACTGGAGAACGGAGAAGGCCCAGCTAC
AGCTGGCCCACGGCTCCTCACCTTCCAGGGCAGCGAACTAAGCCCAGAGCTACAGGCGGCCATG
GCAGGGGGTGGCCCTGAACCACTCCCCCTCCCACCTGCCCGCTCTCCCAGCCAGGAGAGCATCG
GGGCACGCTCACGGGGGTCTGGCCACTCACAGGAACAGCCTGCCCCACAGCCCAGCGGTGGAGA
TCCCAGCCCCCCCCAGGAGAGGAACCTCCCAGAGGGCACAGAGCGGCCCCCTAAGCTTTGTTCT
TCACTTCCTGGCCAAGGACCCCCACCCTATGTTTTTATGTACCCCCAGGGCTCACCCTCTAGCC
CGGCCCCAGGGCCACCTCCTGGCGCACCCTGGGCCTTCTCCTACTTGGCCGGGCCCCCTGCCAC
TCCCCCAGACCCGCCTCGACCTAAGCGCCGGTCCCACAGCCTAAGCCGCCCTGGCCCCACAGAG
GGGGATGCTGAGGGGGAGGCCGAAGGGCCAGTGGGCAGCACCCTAGGCAGTTATGCTACCCTTA
CCCGGCGGCCAGGACGCAGTGCCCTTGTCCGGACCAGTCCTAGTGTGACCCCAACCCCAGCTCG
GGGGACTCCTCGCAGCCAGTCCTTTGCCCTGCGGGCCCGGCGCAAAGGCCCCCCGCCCCCGCCC
CCCAAGCGCCTCAGCTCCGTCTCTGGCCCCAGCCCGGAGCCACCTCCACTAGATGAGAGCCCAG
GGCCCAAGGAAGGGGCCACAGGGCCCCGAAGGCGAACACTGAGTGAACCTGCTGGCCCCTCAGA
GCCCCCTGGCCCACCTGCCCCGGCTGGGCCCGCGTCAGACACGGAGGAGGAGGAGCCAGGCCCT
GAGGGGACGCCCCCATCTCGGGGCAGCTCTGGGGAAGGGCTGCCGTTTGCAGAGGAAGGGAACC
TGACCATCAAACAGCGCCCGAAGCCCGCTGGCCCCCCGCCCCGAGAGACACCCGTGCCCCCCGG
CCTCGATTTCAACCTCACGGAATCAGACACTGTTAAGCGGAGGCCCAAGTGCCGGGAGAGAGAG
CCACTGCAGACCGCACTGCTGGCCTTCGGAGTGGCCAGTGCCACGCCTGGCCCCGCTGCCCCAC
TGCCTTCCCCAACTCCTGGCGAGTCTCCTCCAGCTTCTAGCCTTCCCCAGCCCGAGCCCAGCAG
CCTTCCAGCCCAAGGAGTTCCAACCCCCCTTGCTCCCAGCCCCGCCATGCAGCCTCCAGTGCCG
CCCTGCCCAGGGCCAGGTCTGGAAAGCTCAGCAGCTAGTCGGTGGAATGGGGAGACAGAACCCC
CGGCCGCCCCTGCTGCCCTCCTCAAGGTGCCCGGAGCAGGAACAGCCCCCAAGCCTGTGTCGGT
GGCCTGCACCCAGCTGGCATTTTCTGGCCCTAAGCTAGCGCCCCGGCTCGGCCCCCGCCCAGTG
CCTCCTCCACGGCCTGAGAGCACTGGGACTGTGGGCCCAGGCCAGGCCCAGCAGAGACTGGAGC
AGACCAGCTCGTCCCTGGCAGCTGCACTGAGAGCCGCAGAGAAGAGCATTGGCACCAAGGAGCA
AGAGGGCACCCCCAGCGCCTCCACCAAGCACATTCTGGATGACATCAGCACCATGTTCGACGCC
CTGGCTGACCAGCTGGACGCCATGCTGGACTGAGCCCTCCAGCAGTGCCCACTGTGACCTGCCG
AAGTCCACTGCCTTTGCCCCAGCACAGAAGAGGCCCCTGCCACCCTAGGGACGGGCCAAGGGCT
GGTCAGGCTGAAGTGCCCCTCCTAGCAGGGCCCCTTCCCACTCAGCCCGCGGCTGTGGGCACCA
CAGCTCTTGTGGGGCAGCCCACCTTAGAACCTGACTAGCGAGGGACCTCCGCTGCATCTCAGCA
AAGCCCCTCCCAGGGTTTGATCGATTGAGCAGGACAGCCCTGCTCCTGGACAGGGACCCTGGTA
AGAGCTCTCTCCTCAGGGAGGAAGTAGGGGTGGGGCTTTGGGGGTGCTTTCTCTGTACCCCCCA
GCCCATGTCCCAAGTTGTGCCAAGGGAATGCCTCTTGCCACCCACCATCCTGCCCAGGCCCTGA
GAGGCTGGAGGAGGCGTGTGTCTGGCCGGGCCCCCTCTCCGTAGGTGTACAGAGGACATGTAAA
TACACAGCGGTGGTGCCCAGGCAGCTCCTGCCCCCGCCTTCCCTCACTGAGGCAGGGCTAGCAG
GGGTGGGAGGCAGTGGGGTTAACAGATCCCACAAGTCCTAACTTTTCAATTGTAAATGTTATTT
TCTAAGCAGAGAGAAATGCATATATTTTAAATGGAATTTATTCTATCAACTGCCTGAGAGGACA
CAATGGGGGAGGGGCTTCGGACCACAGCAGGAGCCCCGACTGCCCACCTGAGGGCAGGGAGAGC
CTGACCCCATTGGCCCAGGCCCTGGCTCTGTAACCATTAACCTCTTCCCCCAACTAACACCAAT
GAAAACACCATTCCACGTGA

hide sequence

RefSeq Acc Id:

NM_020753 ⟹ NP_065804

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	75,500,261 - 75,515,537 (-)	NCBI
GRCh37	17	73,496,341 - 73,511,664 (-)	NCBI
Build 36	17	71,007,937 - 71,023,222 (-)	NCBI Archive
Celera	17	70,090,213 - 70,105,647 (-)	RGD
HuRef	17	68,919,898 - 68,935,321 (-)	NCBI
CHM1_1	17	73,561,385 - 73,576,701 (-)	NCBI
T2T-CHM13v2.0	17	76,393,591 - 76,408,903 (-)	NCBI

Sequence:

show sequence

GGGATTTCCTGCGGGAGGCGCCGAGCCGGCCTTGGAAAAGGAGAAGGAGAAAGGGGGGCAGGGG
GGAGTGGGAGCCACCGTCCTGAGTGCCAGGGACCGAGCAGGGCCAGCCGGACCCCGGCGGGCGG
CCGGGAGAGAGCCCTGAGACCAGTGCACCGCTGCTGCCTGAGGCCCAAGGGAATGCTGGCTGCT
CTCTGGGTGGGCACTGGTGTTCCACAGCCAAGCCGGGAAGATTGGTGTGCCCAGTCCCAGCCCA
TCCTGGAGCTGTCGGAAGCCACAAGCTGATATCCATCCAGATTTCCATGTAGCCTTCACCCCCT
CAAAGATTAGCTTTCCTTCGTGTGGTGGCAGTTCACGGAGCACCTTTGGGAGTATCCCTCAGTA
CCTGACGAGGAGCCCACTGCCTGGGACACCTGACTTGCTCCCCCGGAACCGGGAGCCCTCCAAG
GGGCTGTGGCATGGCGCCCTGACGCCCCAGCTTGGACCCGTTGCCTGCCTTTGCCCTGGACTCC
TGAGTGTAGAGCTCAGCCCAGGAGCCAGTATGGGTCGTGAACAGGACCTGATCCTCGCCGTCAA
GAATGGAGATGTGACCGGTGTGCAGAAACTGGTGGCGAAGGTCAAGGCCACAAAGACAAAGCTC
CTGGGCTCCACAAAGAGGCTCAACGTGAACTACCAGGATGCTGATGGATTCTCTGCCCTCCACC
ACGCTGCTTTGGGGGGCAGCCTGGAGCTCATAGCCTTGCTGCTAGAGGCTCAGGCCACTGTTGA
CATCAAGGACAGCAATGGCATGCGCCCGCTGCACTACGCAGCCTGGCAGGGCCGGCTGGAGCCT
GTGAGGCTGCTGCTGCGCGCCTCTGCGGCTGTCAATGCCGCCTCGCTGGACGGACAGATCCCCC
TGCACCTGGCTGCACAGTATGGACATTATGAGGTGTCAGAAATGCTCCTCCAGCATCAGTCCAA
CCCATGCCTGGTCAACAAGGCCAAGAAGACGCCCCTGGACCTGGCCTGTGAATTTGGCCGACTC
AAGGTGGCCCAGCTGCTTCTGAACAGCCACTTATGTGTGGCACTGCTGGAGGGTGAGGCCAAAG
ACCCGTGTGACCCCAACTACACCACGCCCCTGCACTTGGCTGCCAAGAATGGCCACAGAGAAGT
CATCAGGCAGCTCCTGAGAGCTGGGATCGAGATCAACCGCCAGACCAAGACGGGTACGGCGCTC
CACGAGGCCGCACTGTATGGCAAGACCGAGGTGGTGCGGCTGCTTCTGGAGGGAGGTGTGGACG
TGAACATCCGGAATACGTATAACCAGACGGCGCTGGACATAGTGAATCAGTTCACCACCTCCCA
GGCCAGCCGGGAAATCAAGCAGCTACTGCGGGAGGCCTCAGGGATCCTGAAGGTCCGAGCGCTC
AAGGATTTCTGGAACCTCCACGATCCCACTGCTCTCAATGTCCGGGCAGGGGATGTCATCACGG
TGCTAGAACAGCATCCCGACGGCCGCTGGAAGGGCCACATCCACGAGAGCCAGAGGGGCACAGA
CCGCATAGGCTACTTCCCCCCGGGCATTGTCGAGGTGGTCAGCAAGCGGGTGGGCATCCCTGCA
GCCCGCCTCCCCTCCGCACCCACCCCCCTGCGCCCAGGCTTCTCCCGGACACCGCAGCCTCCTG
CCGAAGAACCCCCGCACCCTCTTACCTACAGCCAGCTTCCTCGGGTGGGCCTCAGCCCAGACAG
CCCAGCAGGTGACAGGAATAGTGTGGGCAGTGAGGGCAGCGTGGGCAGCATCCGCAGTGCCGGC
AGCGGGCAGAGCTCTGAGGGCACTAATGGCCATGGCCCTGGCCTCCTGATTGAGAACGCCCAGC
CACTGCCCTCTGCTGGAGAGGACCAGGTGCTGCCAGGACTCCACCCGCCGTCCCTGGCAGACAA
CCTGAGCCACCGCCCTCTGGCCAACTGCCGCTCTGGGGAGCAGATCTTCACCCAGGACGTGCGG
CCAGAACAGCTGCTGGAGGGGAAGGACGCGCAGGCCATTCATAACTGGCTAAGCGAGTTCCAGC
TGGAGGGCTACACTGCCCACTTTCTGCAGGCCGGCTATGATGTGCCTACCATCAGCCGCATGAC
ACCTGAGGACCTGACGGCCATCGGGGTGACCAAGCCTGGGCACAGGAAGAAGATCGCCTCAGAG
ATCGCTCAGCTCAGCATCGCCGAGTGGCTGCCCAGCTACATCCCAACGGACCTGCTGGAGTGGC
TGTGTGCACTGGGGCTGCCACAGTACCACAAGCAGCTGGTGAGCAGCGGCTACGACTCCATGGG
GCTGGTGGCCGACCTCACCTGGGAGGAGCTGCAGGAGATTGGGGTCAACAAGCTCGGGCATCAG
AAGAAGCTCATGCTGGGGGTGAAGCGGCTGGCGGAGCTTCGGCGGGGCCTGCTGCAGGGGGAGG
CCCTCAGCGAAGGCGGGCGCCGGCTGGCCAAGGGTCCGGAGCTGATGGCCATCGAGGGACTGGA
GAACGGAGAAGGCCCAGCTACAGCTGGCCCACGGCTCCTCACCTTCCAGGGCAGCGAACTAAGC
CCAGAGCTACAGGCGGCCATGGCAGGGGGTGGCCCTGAACCACTCCCCCTCCCACCTGCCCGCT
CTCCCAGCCAGGAGAGCATCGGGGCACGCTCACGGGGGTCTGGCCACTCACAGGAACAGCCTGC
CCCACAGCCCAGCGGTGGAGATCCCAGCCCCCCCCAGGAGAGGAACCTCCCAGAGGGCACAGAG
CGGCCCCCTAAGCTTTGTTCTTCACTTCCTGGCCAAGGACCCCCACCCTATGTTTTTATGTACC
CCCAGGGCTCACCCTCTAGCCCGGCCCCAGGGCCACCTCCTGGCGCACCCTGGGCCTTCTCCTA
CTTGGCCGGGCCCCCTGCCACTCCCCCAGACCCGCCTCGACCTAAGCGCCGGTCCCACAGCCTA
AGCCGCCCTGGCCCCACAGAGGGGGATGCTGAGGGGGAGGCCGAAGGGCCAGTGGGCAGCACCC
TAGGCAGTTATGCTACCCTTACCCGGCGGCCAGGACGCAGTGCCCTTGTCCGGACCAGTCCTAG
TGTGACCCCAACCCCAGCTCGGGGGACTCCTCGCAGCCAGTCCTTTGCCCTGCGGGCCCGGCGC
AAAGGCCCCCCGCCCCCGCCCCCCAAGCGCCTCAGCTCCGTCTCTGGCCCCAGCCCGGAGCCAC
CTCCACTAGATGAGAGCCCAGGGCCCAAGGAAGGGGCCACAGGGCCCCGAAGGCGAACACTGAG
TGAACCTGCTGGCCCCTCAGAGCCCCCTGGCCCACCTGCCCCGGCTGGGCCCGCGTCAGACACG
GAGGAGGAGGAGCCAGGCCCTGAGGGGACGCCCCCATCTCGGGGCAGCTCTGGGGAAGGGCTGC
CGTTTGCAGAGGAAGGGAACCTGACCATCAAACAGCGCCCGAAGCCCGCTGGCCCCCCGCCCCG
AGAGACACCCGTGCCCCCCGGCCTCGATTTCAACCTCACGGAATCAGACACTGTTAAGCGGAGG
CCCAAGTGCCGGGAGAGAGAGCCACTGCAGACCGCACTGCTGGCCTTCGGAGTGGCCAGTGCCA
CGCCTGGCCCCGCTGCCCCACTGCCTTCCCCAACTCCTGGCGAGTCTCCTCCAGCTTCTAGCCT
TCCCCAGCCCGAGCCCAGCAGCCTTCCAGCCCAAGGAGTTCCAACCCCCCTTGCTCCCAGCCCC
GCCATGCAGCCTCCAGTGCCGCCCTGCCCAGGGCCAGGTCTGGAAAGCTCAGCAGCTAGTCGGT
GGAATGGGGAGACAGAACCCCCGGCCGCCCCTGCTGCCCTCCTCAAGGTGCCCGGAGCAGGAAC
AGCCCCCAAGCCTGTGTCGGTGGCCTGCACCCAGCTGGCATTTTCTGGCCCTAAGCTAGCGCCC
CGGCTCGGCCCCCGCCCAGTGCCTCCTCCACGGCCTGAGAGCACTGGGACTGTGGGCCCAGGCC
AGGCCCAGCAGAGACTGGAGCAGACCAGCTCGTCCCTGGCAGCTGCACTGAGAGCCGCAGAGAA
GAGCATTGGCACCAAGGAGCAAGAGGGCACCCCCAGCGCCTCCACCAAGCACATTCTGGATGAC
ATCAGCACCATGTTCGACGCCCTGGCTGACCAGCTGGACGCCATGCTGGACTGAGCCCTCCAGC
AGTGCCCACTGTGACCTGCCGAAGTCCACTGCCTTTGCCCCAGCACAGAAGAGGCCCCTGCCAC
CCTAGGGACGGGCCAAGGGCTGGTCAGGCTGAAGTGCCCCTCCTAGCAGGGCCCCTTCCCACTC
AGCCCGCGGCTGTGGGCACCACAGCTCTTGTGGGGCAGCCCACCTTAGAACCTGACTAGCGAGG
GACCTCCGCTGCATCTCAGCAAAGCCCCTCCCAGGGTTTGATCGATTGAGCAGGACAGCCCTGC
TCCTGGACAGGGACCCTGGTAAGAGCTCTCTCCTCAGGGAGGAAGTAGGGGTGGGGCTTTGGGG
GTGCTTTCTCTGTACCCCCCAGCCCATGTCCCAAGTTGTGCCAAGGGAATGCCTCTTGCCACCC
ACCATCCTGCCCAGGCCCTGAGAGGCTGGAGGAGGCGTGTGTCTGGCCGGGCCCCCTCTCCGTA
GGTGTACAGAGGACATGTAAATACACAGCGGTGGTGCCCAGGCAGCTCCTGCCCCCGCCTTCCC
TCACTGAGGCAGGGCTAGCAGGGGTGGGAGGCAGTGGGGTTAACAGATCCCACAAGTCCTAACT
TTTCAATTGTAAATGTTATTTTCTAAGCAGAGAGAAATGCATATATTTTAAATGGAATTTATTC
TATCAACTGCCTGAGAGGACACAATGGGGGAGGGGCTTCGGACCACAGCAGGAGCCCCGACTGC
CCACCTGAGGGCAGGGAGAGCCTGACCCCATTGGCCCAGGCCCTGGCTCTGTAACCATTAACCT
CTTCCCCCAACTAACACCAATGAAAACACCATTCCACGTGA

hide sequence

RefSeq Acc Id:

XM_047436459 ⟹ XP_047292415

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	75,500,261 - 75,515,537 (-)	NCBI

RefSeq Acc Id:

XM_054316745 ⟹ XP_054172720

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	17	76,393,591 - 76,408,903 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001136115	(Get FASTA)	NCBI Sequence Viewer
	NP_065804	(Get FASTA)	NCBI Sequence Viewer
	XP_047292415	(Get FASTA)	NCBI Sequence Viewer
	XP_054172720	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH66643	(Get FASTA)	NCBI Sequence Viewer
	AAL49757	(Get FASTA)	NCBI Sequence Viewer
	BAA86453	(Get FASTA)	NCBI Sequence Viewer
	BAG62095	(Get FASTA)	NCBI Sequence Viewer
	BAH14307	(Get FASTA)	NCBI Sequence Viewer
	EAW89278	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000325355
	ENSP00000325355.3
	ENSP00000406963
	ENSP00000406963.2
	ENSP00000463211.1
	ENSP00000464300.1
GenBank Protein	Q8WXE0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_065804 ⟸ NM_020753
- Peptide Label:	isoform a
- UniProtKB:	Q8WXE0 (UniProtKB/Swiss-Prot), Q7LG69 (UniProtKB/Swiss-Prot), B7Z9H1 (UniProtKB/Swiss-Prot), B4DTT3 (UniProtKB/Swiss-Prot), Q9ULT1 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGREQDLILAVKNGDVTGVQKLVAKVKATKTKLLGSTKRLNVNYQDADGFSALHHAALGGSLEL IALLLEAQATVDIKDSNGMRPLHYAAWQGRLEPVRLLLRASAAVNAASLDGQIPLHLAAQYGHY EVSEMLLQHQSNPCLVNKAKKTPLDLACEFGRLKVAQLLLNSHLCVALLEGEAKDPCDPNYTTP LHLAAKNGHREVIRQLLRAGIEINRQTKTGTALHEAALYGKTEVVRLLLEGGVDVNIRNTYNQT ALDIVNQFTTSQASREIKQLLREASGILKVRALKDFWNLHDPTALNVRAGDVITVLEQHPDGRW KGHIHESQRGTDRIGYFPPGIVEVVSKRVGIPAARLPSAPTPLRPGFSRTPQPPAEEPPHPLTY SQLPRVGLSPDSPAGDRNSVGSEGSVGSIRSAGSGQSSEGTNGHGPGLLIENAQPLPSAGEDQV LPGLHPPSLADNLSHRPLANCRSGEQIFTQDVRPEQLLEGKDAQAIHNWLSEFQLEGYTAHFLQ AGYDVPTISRMTPEDLTAIGVTKPGHRKKIASEIAQLSIAEWLPSYIPTDLLEWLCALGLPQYH KQLVSSGYDSMGLVADLTWEELQEIGVNKLGHQKKLMLGVKRLAELRRGLLQGEALSEGGRRLA KGPELMAIEGLENGEGPATAGPRLLTFQGSELSPELQAAMAGGGPEPLPLPPARSPSQESIGAR SRGSGHSQEQPAPQPSGGDPSPPQERNLPEGTERPPKLCSSLPGQGPPPYVFMYPQGSPSSPAP GPPPGAPWAFSYLAGPPATPPDPPRPKRRSHSLSRPGPTEGDAEGEAEGPVGSTLGSYATLTRR PGRSALVRTSPSVTPTPARGTPRSQSFALRARRKGPPPPPPKRLSSVSGPSPEPPPLDESPGPK EGATGPRRRTLSEPAGPSEPPGPPAPAGPASDTEEEEPGPEGTPPSRGSSGEGLPFAEEGNLTI KQRPKPAGPPPRETPVPPGLDFNLTESDTVKRRPKCREREPLQTALLAFGVASATPGPAAPLPS PTPGESPPASSLPQPEPSSLPAQGVPTPLAPSPAMQPPVPPCPGPGLESSAASRWNGETEPPAA PAALLKVPGAGTAPKPVSVACTQLAFSGPKLAPRLGPRPVPPPRPESTGTVGPGQAQQRLEQTS SSLAAALRAAEKSIGTKEQEGTPSASTKHILDDISTMFDALADQLDAMLD hide sequence

RefSeq Acc Id:	NP_001136115 ⟸ NM_001142643
- Peptide Label:	isoform b
- UniProtKB:	Q8WXE0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRPLHYAAWQGRLEPVRLLLRASAAVNAASLDGQIPLHLAAQYGHYEVSEMLLQHQSNPCLVNK AKKTPLDLACEFGRLKVAQLLLNSHLCVALLEGEAKDPCDPNYTTPLHLAAKNGHREVIRQLLR AGIEINRQTKTGTALHEAALYGKTEVVRLLLEGGVDVNIRNTYNQTALDIVNQFTTSQASREIK QLLREASGILKVRALKDFWNLHDPTALNVRAGDVITVLEQHPDGRWKGHIHESQRGTDRIGYFP PGIVEVVSKRVGIPAARLPSAPTPLRPGFSRTPQPPAEEPPHPLTYSQLPRVGLSPDSPAGDRN SVGSEGSVGSIRSAGSGQSSEGTNGHGPGLLIENAQPLPSAGEDQVLPGLHPPSLADNLSHRPL ANCRSGEQIFTQDVRPEQLLEGKDAQAIHNWLSEFQLEGYTAHFLQAGYDVPTISRMTPEDLTA IGVTKPGHRKKIASEIAQLSIAEWLPSYIPTDLLEWLCALGLPQYHKQLVSSGYDSMGLVADLT WEELQEIGVNKLGHQKKLMLGVKRLAELRRGLLQGEALSEGGRRLAKGPELMAIEGLENGEGPA TAGPRLLTFQGSELSPELQAAMAGGGPEPLPLPPARSPSQESIGARSRGSGHSQEQPAPQPSGG DPSPPQERNLPEGTERPPKLCSSLPGQGPPPYVFMYPQGSPSSPAPGPPPGAPWAFSYLAGPPA TPPDPPRPKRRSHSLSRPGPTEGDAEGEAEGPVGSTLGSYATLTRRPGRSALVRTSPSVTPTPA RGTPRSQSFALRARRKGPPPPPPKRLSSVSGPSPEPPPLDESPGPKEGATGPRRRTLSEPAGPS EPPGPPAPAGPASDTEEEEPGPEGTPPSRGSSGEGLPFAEEGNLTIKQRPKPAGPPPRETPVPP GLDFNLTESDTVKRRPKCREREPLQTALLAFGVASATPGPAAPLPSPTPGESPPASSLPQPEPS SLPAQGVPTPLAPSPAMQPPVPPCPGPGLESSAASRWNGETEPPAAPAALLKVPGAGTAPKPVS VACTQLAFSGPKLAPRLGPRPVPPPRPESTGTVGPGQAQQRLEQTSSSLAAALRAAEKSIGTKE QEGTPSASTKHILDDISTMFDALADQLDAMLD hide sequence

Ensembl Acc Id:

ENSP00000463211 ⟸ ENST00000580075

Ensembl Acc Id:

ENSP00000464300 ⟸ ENST00000581870

Ensembl Acc Id:

ENSP00000325355 ⟸ ENST00000321617

Ensembl Acc Id:

ENSP00000406963 ⟸ ENST00000433559

RefSeq Acc Id:	XP_047292415 ⟸ XM_047436459
- Peptide Label:	isoform X1
- UniProtKB:	Q8WXE0 (UniProtKB/Swiss-Prot), Q7LG69 (UniProtKB/Swiss-Prot), B7Z9H1 (UniProtKB/Swiss-Prot), B4DTT3 (UniProtKB/Swiss-Prot), Q9ULT1 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054172720 ⟸ XM_054316745
- Peptide Label:	isoform X1

Protein Domains

SAM SH3

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8WXE0-F1-model_v2	AlphaFold	Q8WXE0	1-1202	view protein structure

Promoters

RGD ID:

6794256

Promoter ID:

HG_KWN:27103

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

UC002JOC.1, UC002JOD.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	71,023,061 - 71,024,197 (-)	MPROMDB

RGD ID:

7236301

Promoter ID:

EPDNEW_H23896

Type:

initiation region

Name:

CASKIN2_1

Description:

CASK interacting protein 2

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	75,515,537 - 75,515,597	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18200	AgrOrtholog
COSMIC	CASKIN2	COSMIC
Ensembl Genes	ENSG00000177303	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000321617	ENTREZGENE
	ENST00000321617.8	UniProtKB/Swiss-Prot
	ENST00000433559	ENTREZGENE
	ENST00000433559.6	UniProtKB/Swiss-Prot
	ENST00000580075.1	UniProtKB/TrEMBL
	ENST00000581870.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.150.50	UniProtKB/Swiss-Prot
	1.25.40.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SH3 Domains	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000177303	GTEx
HGNC ID	HGNC:18200	ENTREZGENE
Human Proteome Map	CASKIN2	Human Proteome Map
InterPro	ANKS1/Caskin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ankyrin_rpt	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ankyrin_rpt-contain_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Caskin1-CID	UniProtKB/Swiss-Prot
	Caskin1/2_SAM_1	UniProtKB/Swiss-Prot
	Caskin1/2_SAM_2	UniProtKB/Swiss-Prot
	Caskin2_SH3	UniProtKB/Swiss-Prot
	Caskin_C	UniProtKB/Swiss-Prot
	SAM	UniProtKB/Swiss-Prot
	SAM/pointed_sf	UniProtKB/Swiss-Prot
	SH3-like_dom_sf	UniProtKB/Swiss-Prot
	SH3_domain	UniProtKB/Swiss-Prot
KEGG Report	hsa:57513	UniProtKB/Swiss-Prot
NCBI Gene	57513	ENTREZGENE
OMIM	612185	OMIM
PANTHER	ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	CASKIN-2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Ank_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ank_4	UniProtKB/TrEMBL
	Caskin-Pro-rich	UniProtKB/Swiss-Prot
	Caskin-tail	UniProtKB/Swiss-Prot
	Caskin1-CID	UniProtKB/Swiss-Prot
	SAM_1	UniProtKB/Swiss-Prot
	SH3_2	UniProtKB/Swiss-Prot
PharmGKB	PA134944093	PharmGKB
PRINTS	ANKYRIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	ANK_REP_REGION	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ANK_REPEAT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SAM_DOMAIN	UniProtKB/Swiss-Prot
	SH3	UniProtKB/Swiss-Prot
SMART	ANK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SAM	UniProtKB/Swiss-Prot
	SH3	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47769	UniProtKB/Swiss-Prot
	SSF48403	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF50044	UniProtKB/Swiss-Prot
UniProt	B4DTT3	ENTREZGENE
	B7Z9H1	ENTREZGENE
	CSKI2_HUMAN	UniProtKB/Swiss-Prot
	J3QKS3_HUMAN	UniProtKB/TrEMBL
	J3QRN1_HUMAN	UniProtKB/TrEMBL
	Q7LG69	ENTREZGENE
	Q8WXE0	ENTREZGENE
	Q9ULT1	ENTREZGENE
UniProt Secondary	B4DTT3	UniProtKB/Swiss-Prot
	B7Z9H1	UniProtKB/Swiss-Prot
	Q7LG69	UniProtKB/Swiss-Prot
	Q9ULT1	UniProtKB/Swiss-Prot

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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