CDKN2AIP (CDKN2A interacting protein)

Gene: CDKN2AIP (CDKN2A interacting protein) Homo sapiens

Analyze

Symbol:

CDKN2AIP

Name:

CDKN2A interacting protein

RGD ID:

1604354

HGNC Page

HGNC:24325

Description:

Enables p53 binding activity. Involved in several processes, including DNA damage response; regulation of cell growth; and regulation of protein stability. Located in granular component and nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CARF; CDKN2A-interacting protein; collaborates/cooperates with ARF (alternate reading frame) protein; collaborator of ARF; FLJ20036

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):	Cdkn2aip (CDKN2A interacting protein)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Cdkn2aip (CDKN2A interacting protein)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Cdkn2aip (CDKN2A interacting protein)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CDKN2AIP (CDKN2A interacting protein)	NCBI	Ortholog
Canis lupus familiaris (dog):	CDKN2AIP (CDKN2A interacting protein)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Cdkn2aip (CDKN2A interacting protein)	NCBI	Ortholog
Sus scrofa (pig):	CDKN2AIP (CDKN2A interacting protein)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CDKN2AIP (CDKN2A interacting protein)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Cdkn2aip (CDKN2A interacting protein)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Cchcr1 (coiled-coil alpha-helical rod protein 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Cdkn2aip (CDKN2A interacting protein)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Mus musculus (house mouse):	Cdkn2aip (CDKN2A interacting protein)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	cdkn2aip (CDKN2A interacting protein)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	cdkn2aip	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder)
Xenopus laevis (African clawed frog):	cdkn2aip.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	cdkn2aip.S	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	4	183,444,636 - 183,449,064 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	183,444,635 - 183,449,064 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	184,365,789 - 184,370,217 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	184,602,783 - 184,606,043 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	181,698,578 - 181,701,840 (+)	NCBI		Celera
Cytogenetic Map	4	q35.1	NCBI
HuRef	4	180,125,202 - 180,128,464 (+)	NCBI		HuRef
CHM1_1	4	184,342,508 - 184,345,773 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	186,787,446 - 186,791,876 (+)	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

prostate cancer (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

2-hydroxypropanoic acid (EXP)

2-palmitoylglycerol (EXP)

3,4-methylenedioxymethamphetamine (ISO)

4,4'-diaminodiphenylmethane (ISO)

5-fluorouracil (EXP)

6-propyl-2-thiouracil (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP,ISO)

amitrole (ISO)

aristolochic acid A (EXP)

Aroclor 1254 (ISO)

bisphenol A (ISO)

Brodifacoum (ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

cisplatin (EXP)

clotrimazole (ISO)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

coumestrol (EXP)

crocidolite asbestos (EXP,ISO)

CU-O LINKAGE (EXP)

cyclosporin A (EXP)

dicrotophos (EXP)

disulfiram (EXP)

ethyl methanesulfonate (EXP)

formaldehyde (EXP)

FR900359 (EXP)

gentamycin (ISO)

gold atom (EXP)

gold(0) (EXP)

ivermectin (EXP)

leflunomide (EXP)

methyl methanesulfonate (EXP)

ozone (EXP)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

potassium chromate (EXP)

progesterone (EXP)

rac-lactic acid (EXP)

rotenone (ISO)

silver atom (ISO)

silver(0) (ISO)

sulforaphane (EXP)

sunitinib (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

triptonide (ISO)

valdecoxib (ISO)

valproic acid (EXP)

withaferin A (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

DNA damage response (IDA)

negative regulation of cell growth (IMP)

positive regulation of cell growth (IMP)

positive regulation of signal transduction (IMP)

regulation of protein stability (IMP)

Cellular Component

granular component (IDA)

nucleolus (IBA,IDA,IEA)

nucleoplasm (IBA,IDA,IEA)

nucleus (IEA)

Molecular Function

p53 binding (IDA)

protein binding (IPI)

RNA binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Prostate cancer (IAGP)

References

References - curated

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

Additional References at PubMed

PMID:8125298	PMID:12154087	PMID:12477932	PMID:12581788	PMID:14702039	PMID:15109303	PMID:15146197	PMID:16803988	PMID:17460193	PMID:18292944	PMID:18555516	PMID:19001376
PMID:20360068	PMID:20467437	PMID:21052095	PMID:21145461	PMID:21873635	PMID:21903422	PMID:22145905	PMID:22552337	PMID:22751105	PMID:22939629	PMID:22990118	PMID:23383273
PMID:24332808	PMID:24485912	PMID:24778252	PMID:24825908	PMID:25324306	PMID:26186194	PMID:26278998	PMID:26344197	PMID:26389662	PMID:26496610	PMID:26531822	PMID:26673895
PMID:27457128	PMID:27829235	PMID:27880917	PMID:28514442	PMID:28533407	PMID:28754531	PMID:29395067	PMID:29509190	PMID:29884807	PMID:30021884	PMID:30196744	PMID:30463901
PMID:30737378	PMID:31091453	PMID:31280863	PMID:31527615	PMID:31540324	PMID:31586073	PMID:31623628	PMID:32221864	PMID:32416067	PMID:32457219	PMID:32538781	PMID:32665550
PMID:32694731	PMID:33022573	PMID:33916271	PMID:33961781	PMID:34079125	PMID:34189442	PMID:34591612	PMID:34597346	PMID:34728620	PMID:34795231	PMID:35013218	PMID:35013429
PMID:35013556	PMID:35182466	PMID:35256949	PMID:35271311	PMID:35439318	PMID:35593475	PMID:35652658	PMID:35819319	PMID:35944360	PMID:36215168	PMID:36373674	PMID:36774506
PMID:36929488	PMID:37048142	PMID:37536630	PMID:37689310	PMID:37827155	PMID:38360978

Genomics

Comparative Map Data

CDKN2AIP
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	183,444,636 - 183,449,064 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	183,444,635 - 183,449,064 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	184,365,789 - 184,370,217 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	184,602,783 - 184,606,043 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	181,698,578 - 181,701,840 (+)	NCBI		Celera
Cytogenetic Map	4	q35.1	NCBI
HuRef	4	180,125,202 - 180,128,464 (+)	NCBI		HuRef
CHM1_1	4	184,342,508 - 184,345,773 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	4	186,787,446 - 186,791,876 (+)	NCBI		T2T-CHM13v2.0

Cdkn2aip
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	48,162,379 - 48,166,966 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	48,162,379 - 48,166,967 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	47,709,344 - 47,713,931 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	47,709,344 - 47,713,932 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	48,794,698 - 48,799,285 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	49,208,265 - 49,212,716 (-)	NCBI		MGSCv36	mm8
Celera	8	50,386,813 - 50,391,398 (-)	NCBI		Celera
Cytogenetic Map	8	B1.1	NCBI
cM Map	8	26.88	NCBI

Cdkn2aip
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	51,266,613 - 51,274,051 (+)	NCBI		GRCr8
mRatBN7.2	16	44,536,147 - 44,546,216 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	44,536,234 - 44,540,033 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	16	49,942,563 - 49,945,841 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	16	53,303,121 - 53,306,399 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	16	48,578,403 - 48,581,681 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	16	47,664,864 - 47,670,935 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	47,665,816 - 47,669,093 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	47,385,297 - 47,390,428 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	47,746,221 - 47,749,499 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	16	47,746,295 - 47,749,573 (+)	NCBI
Celera	16	42,547,908 - 42,551,186 (+)	NCBI		Celera
Cytogenetic Map	16	q11	NCBI

Cdkn2aip
(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_004955403	25,363,658 - 25,366,295 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955403	25,363,170 - 25,366,481 (-)	NCBI	ChiLan1.0	ChiLan1.0

CDKN2AIP
(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	3	181,174,659 - 181,182,619 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	181,542,613 - 181,547,414 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	175,621,561 - 175,626,138 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	187,848,211 - 187,853,533 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	187,848,215 - 187,852,673 (+)	Ensembl	panpan1.1		panPan2

CDKN2AIP
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	16	46,899,146 - 46,903,523 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	16	46,900,521 - 46,903,339 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	16	47,332,264 - 47,336,599 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	16	49,122,256 - 49,126,587 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	16	49,123,024 - 49,126,616 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	16	47,084,374 - 47,088,704 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	16	47,699,883 - 47,704,220 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	16	47,834,077 - 47,838,409 (-)	NCBI		UU_Cfam_GSD_1.0

Cdkn2aip
(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_024404943	32,467,590 - 32,471,315 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936554	5,639,448 - 5,642,092 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936554	5,638,671 - 5,642,276 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CDKN2AIP
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	15	44,886,692 - 44,892,246 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	15	44,885,603 - 44,890,504 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	51,498,582 - 51,503,462 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CDKN2AIP
(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	7	129,429,535 - 129,433,687 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	7	129,429,533 - 129,435,285 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	109,642,769 - 109,647,398 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cdkn2aip
(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_004624769	14,214,103 - 14,217,508 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CDKN2AIP
20 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	copy number loss	See cases [RCV000050324]	Chr4:181579626..186100199 [GRCh38] Chr4:182500779..187021353 [GRCh37] Chr4:182737773..187258347 [NCBI36] Chr4:4q34.3-35.1	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	copy number loss	See cases [RCV000050771]	Chr4:173599911..188624331 [GRCh38] Chr4:174521062..189545485 [GRCh37] Chr4:174757637..189782479 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	copy number gain	See cases [RCV000050649]	Chr4:162013220..189975519 [GRCh38] Chr4:162934372..190828225 [GRCh37] Chr4:163153822..191133668 [NCBI36] Chr4:4q32.2-35.2	pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	copy number loss	See cases [RCV000051215]	Chr4:175483683..189975519 [GRCh38] Chr4:176404834..190828225 [GRCh37] Chr4:176641828..191133668 [NCBI36] Chr4:4q34.2-35.2	pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	copy number gain	See cases [RCV000051785]	Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2	pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	copy number gain	See cases [RCV000051786]	Chr4:121518223..190062270 [GRCh38] Chr4:122439378..190828225 [GRCh37] Chr4:122658828..191220419 [NCBI36] Chr4:4q27-35.2	pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]\|See cases [RCV000051789]	Chr4:148356485..189548183 [GRCh38] Chr4:149277637..190469337 [GRCh37] Chr4:149497087..190706331 [NCBI36] Chr4:4q31.23-35.2	pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]\|See cases [RCV000051792]	Chr4:167218288..189975519 [GRCh38] Chr4:168139439..190828225 [GRCh37] Chr4:168376014..191133668 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	copy number gain	See cases [RCV000051804]	Chr4:172200228..189975519 [GRCh38] Chr4:173121379..190828225 [GRCh37] Chr4:173357954..191133668 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	copy number gain	See cases [RCV000051805]	Chr4:179946068..189548183 [GRCh38] Chr4:180867221..190469337 [GRCh37] Chr4:181104215..190706331 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	copy number gain	See cases [RCV000051806]	Chr4:182990639..186013514 [GRCh38] Chr4:183911792..186934668 [GRCh37] Chr4:184148786..187171662 [NCBI36] Chr4:4q35.1	pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]\|See cases [RCV000053325]	Chr4:158568335..189975660 [GRCh38] Chr4:159489487..190828225 [GRCh37] Chr4:159708937..191133809 [NCBI36] Chr4:4q32.1-35.2	pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]\|See cases [RCV000053327]	Chr4:163651681..189975519 [GRCh38] Chr4:164572833..190828225 [GRCh37] Chr4:164792283..191133668 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	copy number loss	See cases [RCV000053347]	Chr4:164039530..189982708 [GRCh38] Chr4:164960682..190828225 [GRCh37] Chr4:165180132..191140857 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	copy number loss	See cases [RCV000053349]	Chr4:171507704..189869726 [GRCh38] Chr4:172428855..190790881 [GRCh37] Chr4:172665430..191027875 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	copy number loss	See cases [RCV000053352]	Chr4:172356988..189975519 [GRCh38] Chr4:173278139..190828225 [GRCh37] Chr4:173514714..191133668 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	copy number loss	See cases [RCV000053353]	Chr4:173754675..189343295 [GRCh38] Chr4:174675826..190264449 [GRCh37] Chr4:174912401..190501443 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]\|See cases [RCV000053377]	Chr4:181455566..189975660 [GRCh38] Chr4:182376719..190828225 [GRCh37] Chr4:182613713..191133809 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	copy number loss	See cases [RCV000053378]	Chr4:183354112..190042639 [GRCh38] Chr4:184275265..190828225 [GRCh37] Chr4:184512259..191200788 [NCBI36] Chr4:4q35.1-35.2	pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]\|See cases [RCV000053373]	Chr4:176263514..189975519 [GRCh38] Chr4:177184665..190828225 [GRCh37] Chr4:177421659..191133668 [NCBI36] Chr4:4q34.2-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	copy number loss	See cases [RCV000053374]	Chr4:177442769..190042639 [GRCh38] Chr4:178363923..190828225 [GRCh37] Chr4:178600917..191200788 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1	copy number loss	See cases [RCV000053375]	Chr4:179669472..189975660 [GRCh38] Chr4:180590625..190828225 [GRCh37] Chr4:180827619..191133809 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]\|See cases [RCV000053376]	Chr4:179945868..189975660 [GRCh38] Chr4:180867021..190828225 [GRCh37] Chr4:181104015..191133809 [NCBI36] Chr4:4q34.3-35.2	pathogenic
NM_017632.4(CDKN2AIP):c.914T>G (p.Leu305Arg)	single nucleotide variant	Malignant tumor of prostate [RCV000149243]	Chr4:183446598 [GRCh38] Chr4:184367751 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	copy number loss	See cases [RCV000134276]	Chr4:182437091..190018185 [GRCh38] Chr4:183358244..190939340 [GRCh37] Chr4:183595238..191176334 [NCBI36] Chr4:4q35.1-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	copy number gain	See cases [RCV000135693]	Chr4:180451652..190095391 [GRCh38] Chr4:181372805..190828225 [GRCh37] Chr4:181609799..191250527 [NCBI36] Chr4:4q34.3-35.2	likely pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	copy number gain	See cases [RCV000135845]	Chr4:145042668..189975519 [GRCh38] Chr4:145963820..190828225 [GRCh37] Chr4:146183270..191133668 [NCBI36] Chr4:4q31.21-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	copy number loss	See cases [RCV000136115]	Chr4:173854560..189548183 [GRCh38] Chr4:174775711..190469337 [GRCh37] Chr4:175012286..190706331 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	copy number loss	See cases [RCV000137101]	Chr4:177985956..189975519 [GRCh38] Chr4:178907110..190828225 [GRCh37] Chr4:179144104..191133668 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	copy number gain	See cases [RCV000136810]	Chr4:138510532..189963195 [GRCh38] Chr4:139431686..190828225 [GRCh37] Chr4:139651136..191121344 [NCBI36] Chr4:4q31.1-35.2	pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	copy number gain	See cases [RCV000137721]	Chr4:131985253..190095391 [GRCh38] Chr4:132906408..190828225 [GRCh37] Chr4:133125858..191250527 [NCBI36] Chr4:4q28.3-35.2	pathogenic\|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	copy number loss	See cases [RCV000137532]	Chr4:166317587..190095391 [GRCh38] Chr4:167238739..190828225 [GRCh37] Chr4:167458189..191250527 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	copy number loss	See cases [RCV000137343]	Chr4:178014570..190095391 [GRCh38] Chr4:178935724..190828225 [GRCh37] Chr4:179172718..191250527 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	copy number loss	See cases [RCV000137262]	Chr4:178549472..190095391 [GRCh38] Chr4:179470626..190828225 [GRCh37] Chr4:179707620..191250527 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	copy number loss	See cases [RCV000137345]	Chr4:180574962..190095391 [GRCh38] Chr4:181496115..190828225 [GRCh37] Chr4:181733109..191250527 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1	copy number loss	See cases [RCV000137925]	Chr4:174150183..188259055 [GRCh38] Chr4:175071334..189180209 [GRCh37] Chr4:175307909..189417203 [NCBI36] Chr4:4q34.1-35.2	likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	copy number loss	See cases [RCV000138668]	Chr4:183072743..190095391 [GRCh38] Chr4:183993896..190828225 [GRCh37] Chr4:184230890..191250527 [NCBI36] Chr4:4q35.1-35.2	pathogenic
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	copy number gain	See cases [RCV000138578]	Chr4:125432943..185761887 [GRCh38] Chr4:126354098..186683041 [GRCh37] Chr4:126573548..186920035 [NCBI36] Chr4:4q28.1-35.1	pathogenic\|likely benign
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	copy number gain	See cases [RCV000138540]	Chr4:169901205..190095391 [GRCh38] Chr4:170822356..190828225 [GRCh37] Chr4:171058931..191250527 [NCBI36] Chr4:4q33-35.2	uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	copy number loss	See cases [RCV000140396]	Chr4:169873508..190018185 [GRCh38] Chr4:170794659..190939340 [GRCh37] Chr4:171031234..191176334 [NCBI36] Chr4:4q33-35.2	pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	copy number loss	See cases [RCV000140414]	Chr4:165281036..190018185 [GRCh38] Chr4:166202188..190939340 [GRCh37] Chr4:166421638..191176334 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	copy number gain	See cases [RCV000140450]	Chr4:179295511..190036318 [GRCh38] Chr4:180216665..190957473 [GRCh37] Chr4:180453659..191194467 [NCBI36] Chr4:4q34.3-35.2	pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	copy number gain	See cases [RCV000140982]	Chr4:160757699..190091407 [GRCh38] Chr4:161678851..191012562 [GRCh37] Chr4:161898301..191246543 [NCBI36] Chr4:4q32.1-35.2	pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	copy number loss	See cases [RCV000141964]	Chr4:167373716..190036318 [GRCh38] Chr4:168294867..190957473 [GRCh37] Chr4:168531442..191194467 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	copy number loss	See cases [RCV000141490]	Chr4:173989029..189975519 [GRCh38] Chr4:174910180..190828225 [GRCh37] Chr4:175146755..191133668 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	copy number gain	See cases [RCV000141753]	Chr4:182732498..187998523 [GRCh38] Chr4:183653651..188919677 [GRCh37] Chr4:183890645..189156671 [NCBI36] Chr4:4q35.1-35.2	likely pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	copy number loss	See cases [RCV000142368]	Chr4:168970400..186936738 [GRCh38] Chr4:169891551..187857892 [GRCh37] Chr4:170128126..188094886 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1	copy number loss	See cases [RCV000142279]	Chr4:181762338..185175891 [GRCh38] Chr4:182683491..186097045 [GRCh37] Chr4:182920485..186334039 [NCBI36] Chr4:4q34.3-35.1	uncertain significance
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	copy number loss	See cases [RCV000143079]	Chr4:172501374..190095332 [GRCh38] Chr4:173422525..190828225 [GRCh37] Chr4:173659100..191250468 [NCBI36] Chr4:4q34.1-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	copy number gain	See cases [RCV000143010]	Chr4:180717850..190095391 [GRCh38] Chr4:181639003..190828225 [GRCh37] Chr4:181875997..191250527 [NCBI36] Chr4:4q34.3-35.2	pathogenic\|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	copy number gain	See cases [RCV000143331]	Chr4:168119317..190095391 [GRCh38] Chr4:169040468..190828225 [GRCh37] Chr4:169277043..191250527 [NCBI36] Chr4:4q32.3-35.2	pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	copy number loss	See cases [RCV000143232]	Chr4:170899124..190036318 [GRCh38] Chr4:171820275..190957473 [GRCh37] Chr4:172056850..191194467 [NCBI36] Chr4:4q33-35.2	pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	copy number loss	See cases [RCV000143626]	Chr4:176756632..189621964 [GRCh38] Chr4:177677786..190543118 [GRCh37] Chr4:177914780..190780112 [NCBI36] Chr4:4q34.3-35.2	likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	copy number gain	See cases [RCV000143559]	Chr4:134935616..190036318 [GRCh38] Chr4:135856771..190957473 [GRCh37] Chr4:136076221..191194467 [NCBI36] Chr4:4q28.3-35.2	pathogenic
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	copy number loss	See cases [RCV000148272]	Chr4:181579626..186100199 [GRCh38] Chr4:182500779..187021353 [GRCh37] Chr4:182737773..187258347 [NCBI36] Chr4:4q34.3-35.1	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1	copy number loss	See cases [RCV000239790]	Chr4:176270886..190713650 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1	copy number loss	See cases [RCV000239851]	Chr4:178243625..190713650 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	copy number gain	See cases [RCV000240392]	Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	copy number loss	See cases [RCV002292706]	Chr4:167779888..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190838582)x1	copy number loss	See cases [RCV000446613]	Chr4:175550289..190838582 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1	copy number loss	See cases [RCV000446115]	Chr4:167413365..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3	copy number gain	See cases [RCV000446531]	Chr4:166735148..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175749001-190957473)x1	copy number loss	See cases [RCV000445881]	Chr4:175749001..190957473 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190957473)x1	copy number loss	See cases [RCV000448048]	Chr4:175550289..190957473 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3	copy number gain	See cases [RCV000448219]	Chr4:183959053..186858555 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	copy number gain	See cases [RCV000510222]	Chr4:166436844..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	copy number gain	See cases [RCV000510713]	Chr4:153890440..190957473 [GRCh37] Chr4:4q31.3-35.2	pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	copy number gain	See cases [RCV000511945]	Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2	pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3	copy number gain	See cases [RCV000511078]	Chr4:176306103..190957473 [GRCh37] Chr4:4q34.2-35.2	pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	copy number gain	See cases [RCV000510970]	Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2	pathogenic
NM_017632.4(CDKN2AIP):c.1618G>C (p.Val540Leu)	single nucleotide variant	not specified [RCV004299479]	Chr4:183447302 [GRCh38] Chr4:184368455 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3	copy number gain	See cases [RCV000512153]	Chr4:180702769..190957473 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	copy number gain	See cases [RCV000512542]	Chr4:156465633..190957473 [GRCh37] Chr4:4q32.1-35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	copy number gain	not provided [RCV000682478]	Chr4:159492464..190957473 [GRCh37] Chr4:4q32.1-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1	copy number loss	not provided [RCV000682484]	Chr4:169969014..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1	copy number loss	not provided [RCV000682492]	Chr4:175709188..190957473 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3	copy number gain	not provided [RCV000682495]	Chr4:178771936..190957473 [GRCh37] Chr4:4q34.3-35.2	pathogenic
Single allele	deletion	not provided [RCV000677918]	Chr4:176270886..190713650 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1	copy number loss	not provided [RCV000682493]	Chr4:176493246..190957473 [GRCh37] Chr4:4q34.2-35.2	pathogenic
GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1	copy number loss	not provided [RCV000845694]	Chr4:183712263..185501647 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:183157313-191028879)x1	copy number loss	not provided [RCV000744206]	Chr4:183157313..191028879 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184040122-187880098)x3	copy number gain	not provided [RCV000744219]	Chr4:184040122..187880098 [GRCh37] Chr4:4q35.1-35.2	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	copy number loss	not provided [RCV000767793]	Chr4:174610492..190427545 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429)	copy number loss	not provided [RCV000767673]	Chr4:171663620..190431429 [GRCh37] Chr4:4q33-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	copy number loss	not provided [RCV001005612]	Chr4:165010461..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1	copy number loss	not provided [RCV000998343]	Chr4:183245174..190948359 [GRCh37] Chr4:4q35.1-35.2	likely pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	copy number gain	not provided [RCV000849686]	Chr4:124873497..185278662 [GRCh37] Chr4:4q28.1-35.1	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	copy number gain	not provided [RCV000847360]	Chr4:169607746..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1	copy number loss	not provided [RCV000846268]	Chr4:177189906..190816266 [GRCh37] Chr4:4q34.2-35.2	pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1	copy number loss	not provided [RCV000849865]	Chr4:179996712..190957473 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	copy number gain	not provided [RCV000849098]	Chr4:151174061..190957473 [GRCh37] Chr4:4q31.3-35.2	pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3	copy number gain	not provided [RCV001005627]	Chr4:179752903..187987047 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	copy number loss	not provided [RCV000845722]	Chr4:166623890..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1	copy number loss	not provided [RCV001005626]	Chr4:178566256..190957473 [GRCh37] Chr4:4q34.3-35.2	pathogenic
GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1	copy number loss	See cases [RCV001263167]	Chr4:169108358..184425536 [GRCh37] Chr4:4q32.3-35.1	pathogenic
GRCh37/hg19 4q34.3-35.1(chr4:181853722-184723116)x1	copy number loss	not provided [RCV001259889]	Chr4:181853722..184723116 [GRCh37] Chr4:4q34.3-35.1	uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678)	copy number loss	Atypical behavior [RCV001291982]	Chr4:179554876..190916678 [GRCh37] Chr4:4q34.3-35.2	likely pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	copy number gain	not specified [RCV002053465]	Chr4:159755174..190225765 [GRCh37] Chr4:4q32.1-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473)	copy number loss	not specified [RCV002053473]	Chr4:183221828..190957473 [GRCh37] Chr4:4q35.1-35.2	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473)	copy number gain	not specified [RCV002053471]	Chr4:175855408..190957473 [GRCh37] Chr4:4q34.1-35.2	pathogenic
NC_000004.11:g.(?_183245174)_(184633797_?)del	deletion	not provided [RCV003122487]	Chr4:183245174..184633797 [GRCh37] Chr4:4q35.1	pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1	copy number loss	FETAL DEMISE [RCV002282976]	Chr4:174944132..190957473 [GRCh37] Chr4:4q34.1-35.2	pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	copy number loss	See cases [RCV002292401]	Chr4:159174483..190957473 [GRCh37] Chr4:4q32.1-35.2	pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1	copy number loss	not provided [RCV002472626]	Chr4:183694501..190957473 [GRCh37] Chr4:4q35.1-35.2	pathogenic
NM_017632.4(CDKN2AIP):c.1106C>T (p.Ser369Leu)	single nucleotide variant	not specified [RCV004098826]	Chr4:183446790 [GRCh38] Chr4:184367943 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.301C>T (p.Leu101Phe)	single nucleotide variant	not specified [RCV004118585]	Chr4:183445563 [GRCh38] Chr4:184366716 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.974C>T (p.Ser325Leu)	single nucleotide variant	not specified [RCV004149115]	Chr4:183446658 [GRCh38] Chr4:184367811 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.347C>T (p.Thr116Ile)	single nucleotide variant	not specified [RCV004166586]	Chr4:183445609 [GRCh38] Chr4:184366762 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.1289A>G (p.Asn430Ser)	single nucleotide variant	not specified [RCV004126137]	Chr4:183446973 [GRCh38] Chr4:184368126 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.841G>C (p.Ala281Pro)	single nucleotide variant	not specified [RCV004167924]	Chr4:183446525 [GRCh38] Chr4:184367678 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.170C>G (p.Thr57Arg)	single nucleotide variant	not specified [RCV004102643]	Chr4:183444967 [GRCh38] Chr4:184366120 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.588C>G (p.Ile196Met)	single nucleotide variant	not specified [RCV004242393]	Chr4:183446272 [GRCh38] Chr4:184367425 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.623G>T (p.Arg208Leu)	single nucleotide variant	not specified [RCV004123635]	Chr4:183446307 [GRCh38] Chr4:184367460 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.566A>T (p.Asn189Ile)	single nucleotide variant	not specified [RCV004213639]	Chr4:183446250 [GRCh38] Chr4:184367403 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.438A>G (p.Ile146Met)	single nucleotide variant	not specified [RCV004167567]	Chr4:183446122 [GRCh38] Chr4:184367275 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.526T>C (p.Ser176Pro)	single nucleotide variant	not specified [RCV004175266]	Chr4:183446210 [GRCh38] Chr4:184367363 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.173A>G (p.Asp58Gly)	single nucleotide variant	not specified [RCV004256171]	Chr4:183444970 [GRCh38] Chr4:184366123 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.1370T>G (p.Phe457Cys)	single nucleotide variant	not specified [RCV004353856]	Chr4:183447054 [GRCh38] Chr4:184368207 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.632C>T (p.Ser211Phe)	single nucleotide variant	not specified [RCV004344564]	Chr4:183446316 [GRCh38] Chr4:184367469 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1	copy number loss	not provided [RCV003485442]	Chr4:171476330..184998011 [GRCh37] Chr4:4q33-35.1	likely pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	copy number gain	not provided [RCV003484595]	Chr4:167409608..190957473 [GRCh37] Chr4:4q32.3-35.2	pathogenic
Single allele	deletion	not provided [RCV003448667]	Chr4:180937545..190915069 [GRCh37] Chr4:4q34.3-35.2	pathogenic
NM_017632.4(CDKN2AIP):c.264C>T (p.Leu88=)	single nucleotide variant	not provided [RCV003435216]	Chr4:183445061 [GRCh38] Chr4:184366214 [GRCh37] Chr4:4q35.1	likely benign
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	copy number loss	not specified [RCV003986532]	Chr4:161589441..190957473 [GRCh37] Chr4:4q32.1-35.2	pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	copy number gain	not specified [RCV003986533]	Chr4:123399154..190957473 [GRCh37] Chr4:4q27-35.2	pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	copy number gain	not specified [RCV003986496]	Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2	pathogenic
GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1	copy number loss	not specified [RCV003986504]	Chr4:175496275..186495932 [GRCh37] Chr4:4q34.1-35.1	pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	copy number gain	not provided [RCV003885507]	Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2	pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	copy number loss	not provided [RCV003885510]	Chr4:169060637..191154276 [GRCh37] Chr4:4q32.3-35.2	pathogenic
NM_017632.4(CDKN2AIP):c.1073T>C (p.Leu358Pro)	single nucleotide variant	not specified [RCV004430981]	Chr4:183446757 [GRCh38] Chr4:184367910 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.1079C>T (p.Ser360Phe)	single nucleotide variant	not specified [RCV004430982]	Chr4:183446763 [GRCh38] Chr4:184367916 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.1100C>T (p.Ala367Val)	single nucleotide variant	not specified [RCV004430983]	Chr4:183446784 [GRCh38] Chr4:184367937 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.1387C>T (p.His463Tyr)	single nucleotide variant	not specified [RCV004430987]	Chr4:183447071 [GRCh38] Chr4:184368224 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.140C>T (p.Ala47Val)	single nucleotide variant	not specified [RCV004430988]	Chr4:183444937 [GRCh38] Chr4:184366090 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.329C>T (p.Thr110Ile)	single nucleotide variant	not specified [RCV004430990]	Chr4:183445591 [GRCh38] Chr4:184366744 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.782A>T (p.Asp261Val)	single nucleotide variant	not specified [RCV004430993]	Chr4:183446466 [GRCh38] Chr4:184367619 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.943G>T (p.Ala315Ser)	single nucleotide variant	not specified [RCV004430996]	Chr4:183446627 [GRCh38] Chr4:184367780 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.292G>C (p.Asp98His)	single nucleotide variant	not specified [RCV004430989]	Chr4:183445554 [GRCh38] Chr4:184366707 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.455C>T (p.Ser152Phe)	single nucleotide variant	not specified [RCV004430991]	Chr4:183446139 [GRCh38] Chr4:184367292 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.487G>A (p.Ala163Thr)	single nucleotide variant	not specified [RCV004430992]	Chr4:183446171 [GRCh38] Chr4:184367324 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.961T>C (p.Ser321Pro)	single nucleotide variant	not specified [RCV004430997]	Chr4:183446645 [GRCh38] Chr4:184367798 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.1175G>C (p.Ser392Thr)	single nucleotide variant	not specified [RCV004430984]	Chr4:183446859 [GRCh38] Chr4:184368012 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.1229C>T (p.Pro410Leu)	single nucleotide variant	not specified [RCV004430986]	Chr4:183446913 [GRCh38] Chr4:184368066 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.849A>T (p.Gln283His)	single nucleotide variant	not specified [RCV004430994]	Chr4:183446533 [GRCh38] Chr4:184367686 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.971G>C (p.Ser324Thr)	single nucleotide variant	not specified [RCV004430998]	Chr4:183446655 [GRCh38] Chr4:184367808 [GRCh37] Chr4:4q35.1	uncertain significance
GRCh37/hg19 4q35.1(chr4:183712263-185501647)x1	copy number loss	not provided [RCV000845695]	Chr4:183712263..185501647 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.784T>A (p.Ser262Thr)	single nucleotide variant	not specified [RCV004304670]	Chr4:183446468 [GRCh38] Chr4:184367621 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.1258A>G (p.Ser420Gly)	single nucleotide variant	not specified [RCV004361537]	Chr4:183446942 [GRCh38] Chr4:184368095 [GRCh37] Chr4:4q35.1	uncertain significance
NM_017632.4(CDKN2AIP):c.904G>C (p.Glu302Gln)	single nucleotide variant	not specified [RCV004430995]	Chr4:183446588 [GRCh38] Chr4:184367741 [GRCh37] Chr4:4q35.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1232
Count of miRNA genes:	631
Interacting mature miRNAs:	692
Transcripts:	ENST00000302350, ENST00000502924, ENST00000504169, ENST00000506835, ENST00000510928
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

UniSTS:478982

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	184,368,319 - 184,368,868	UniSTS	GRCh37
Build 36	4	184,605,313 - 184,605,862	RGD	NCBI36
Celera	4	181,701,110 - 181,701,659	RGD
HuRef	4	180,127,734 - 180,128,283	UniSTS

CDKN2AIP

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	184,368,016 - 184,368,215	UniSTS	GRCh37
Celera	4	181,700,807 - 181,701,006	UniSTS
HuRef	4	180,127,431 - 180,127,630	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

2200

1368

1355

315

1229

177

3417

902

2149

325

1384

1469

149

1033

1959

Low

237

1606

369

309

711

287

939

1292

1565

140

171

829

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_050671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001317343	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_017632	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA622329	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC112698	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF246705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000043	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK096180	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC022270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX538162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN427056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000302350 ⟹ ENSP00000303788

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	183,444,635 - 183,448,198 (+)	Ensembl

RefSeq Acc Id:

ENST00000502924

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	183,446,141 - 183,447,929 (+)	Ensembl

RefSeq Acc Id:

ENST00000504169 ⟹ ENSP00000427108

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	183,444,636 - 183,449,064 (+)	Ensembl

RefSeq Acc Id:

ENST00000506835

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	183,445,176 - 183,446,759 (+)	Ensembl

RefSeq Acc Id:

ENST00000510928 ⟹ ENSP00000421308

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	183,444,697 - 183,446,021 (+)	Ensembl

RefSeq Acc Id:

NM_001317343 ⟹ NP_001304272

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	183,444,636 - 183,449,064 (+)	NCBI
CHM1_1	4	184,342,463 - 184,346,941 (+)	NCBI
T2T-CHM13v2.0	4	186,787,446 - 186,791,876 (+)	NCBI

Sequence:

show sequence

AGTGGGCGGTTCGGCGGCTCTGGGCGCTGTTGTTTGGTCTTTAGGCCTGCGGAGGGGCGTTATC
TGGAGGGCCGCGGGTGCAGGCCGCAGTGACAGGGCCGCTCGCCCCGCTAGTCCTGCCTGTCTCC
CGGTGCAGCTGTGTTCGCGGCCTGCAGGCCCAACATGGCGCAGGAGGTGTCGGAGTACCTGAGC
CAGAACCCGCGGGTGGCAGCCTGGGTGGAGGCGCTGCGCTGCGACGGCGAGACTGACAAACACT
GGCGCCACCGCCGGGATTTTTTGCTTCGCAACGCCGGGGACCTGGCCCCCGCTGGCGGCGCTGC
CTCCGCTAGCACGGATGAAGCTGCCGACGCCGAGAGCGGGACCCGAAACCGGCAGCTGCAGCAG
CTCATCTCCTTTTCCATGGCCTGGGCGAACCACGTCTTCCTCGGGTGCCGATACCCTCAAAAAG
TTATGGATAAAATACTTAGTATGGCTGAAGGCATCAAAGTGACAGATGCTCCAACCTATACAAC
AAGAGATGAACTGGTTGCCAAGAAGGGGTAGAAGAGCCATCCAAAAAACGAGTTATAGAAGGAA
AAAACAGTTCTGCAGTTGAGCAAGATCACGCAAAAACCTCTGCCAAGACAGAACGTGCATCAGC
TCAGCAGGAAAACAGTTCAACGTGTATAGGGTCGGCCATCAAATCAGAGAGTGGGAACTCAGCT
CGGAGCTCTGGCATCTCCAGTCAGAATAGCTCTACAAGTGATGGAGATCGATCTGTTTCCAGCC
AAAGCAGCAGCAGCGTTTCCTCTCAGGTAACAACGGCAGGATCTGGGAAAGCTTCTGAAGCAGA
AGCTCCAGATAAACACGGTTCTGCATCATTTGTTTCCTTGCTGAAATCCAGTGTGAATAGTCAC
ATGACCCAATCCACTGATTCTAGACAACAAAGTGGATCACCTAAAAAGAGTGCTTTGGAAGGCT
CTTCAGCCTCAGCTTCTCAAAGCAGCTCAGAGATCGAGGTGCCCTTGTTGGGCTCCTCAGGAAG
CTCAGAGGTAGAATTGCCACTATTGTCTTCCAAACCTAGTTCAGAGACAGCTTCAAGTGGGTTA
ACTTCCAAAACTAGTTCAGAGGCAAGTGTTTCATCATCAGTTGCTAAAAACAGTTCCTCATCAG
GCACATCCTTACTGACTCCCAAGAGCAGCTCTTCAACAAATACATCGCTGCTAACTTCCAAGAG
CACTTCCCAGGTAGCTGCATCACTACTAGCTTCCAAGAGCAGCTCCCAGACCAGTGGATCTCTG
GTTTCCAAAAGCACTTCCTTAGCAAGTGTGTCCCAGTTGGCTTCTAAGAGTAGTTCTCAGACTA
GCACCTCACAGTTGCCTTCTAAAAGTACTTCACAGTCAAGTGAGAGTTCTGTCAAATTCTCTTG
CAAGTTAACCAATGAAGATGTGAAACAGAAGCAACCTTTTTTCAATAGACTATATAAAACGGTG
GCATGGAAGTTGGTAGCTGTTGGTGGCTTTAGTCCCAATGTGAATCATGGAGAGCTCCTAAATG
CAGCTATTGAGGCTCTGAAAGCAACACTGGATGTATTTTTTGTCCCACTAAAAGAATTGGCAGA
TCTGCCTCAAAATAAGAGCTCTCAAGAAAGTATTGTTTGTGAATTGAGGTGCAAGTCTGTGTAT
TTGGGCACTGGCTGTGGAAAAAGCAAAGAAAATGCAAAAGCAGTTGCATCAAGAGAAGCATTGA
AGTTATTTCTCAAGAAAAAGGTGGTGGTAAAAATATGTAAAAGGAAATACAGAGGCAGTGAAAT
AGAAGATCTAGTACTCCTTGATGAAGAATCGAGGCCTGTAAACTTACCTCCAGCACTAAAACAT
CCTCAAGAATTACTATAATGTGTCCAAAATATCACTGCATACAATATCTGGTATTTGAAGAGAA
AAACTGACTTTTGTATAGTATAAAACACAGGCTTTCACAAATTTTGTATTGCTTTTTTTCCAGT
TTTGCAGAAAATTTACATTCTAGTTCTCTTCACACAGTAGCAGTTGTAAATAATTTATGAATGA
CAGTACACATTAAAAGGTATGCATTAGCAGCATATTAGTATGCTGTTTTATTTGCTGAAGAAAA
TACTGTCTTCTATTTTTAATGATACATTAGGTACGATGTGTAGTTCGGTAGAGTCCTAAAATTT
TTGTACTACTTTCAATTTGGTGAAAATGTATTAAGTTGTCTACCATGTTTTCTTTTCTAGCTGA
ATAAACCACATCAAAGGAAAGGGACCACAGTATTTGAATGTTTGAAAGTCTGTAAAGCTTAAGG
TTTTAAAAATGTTGCCCGTAATGTTGAACGTGTCTGTTAAAAAATAAAAGAAAAAATAGTTGCT
TCAAACTATTTTTATGAGAAGTTGTAAGCATTTTTTAGATATAAAGCAGTATAAAGTACTTGTT
ATTTTACTCTGAAGTTGTTTAAAATTCACCATGACTTTGACCGCTGAAGATTCTTTAAGCGGGT
TAATTTATGTTTTGAGGTGGAATACAATTTACACTTTTTTCTTAAAAACATGAATGTGGGTTTC
TATATTAAGCATATTTTGTGACTACTATTAACAGATTGATTTGTTTAGATATTAAATGCTTTAA
GCTATTTTACCTTTTCAAGAAGTTGTGTTTTTTTTCTCCAAGTCAGAACCAATTCCTGCAAATA
GGCTTCCCATGACTTGTCATTATAAATTAGACAACCAGGTAATTGTGTGATATACATCTTTATT
TAATTTTTTTTTTTACAGCAATCCCCTGAGCCAGAATAGATTAAAAGCGATTCCCTTCAATTTT
CAAATCTAGAACTGGATGGTTTTTGTGTTTATGCATCTTTTAGAATACCGGAAAGAACAGAGAG
CCGTGTTCAGCTCTTGATAATGAGCCTATTCAATTTAACTACATTCGTTAAAATGAAGTGGAAT
TTTGTTTTCGTCTTAGGTGATTCTGCCTGTTTGTCTGTCATTGTATATTCTGTTTACTTTGCTT
CAAACTGGCCCCAAGATGTTATTTTTGTGGTTTCTGGCTTTCTAGATTCTATTTTTAGATACTG
CCCATTGAGCAATAATGGTGATAATATAGAGAGAAAAGAAAGACCTTTCATGGGCCAGTTGTGT
TGGAATAGGAAAATCAAACGTAAGCACAATTTAAGTATGTAGCAGTTATTCCTATTTTGTATTC
TAGGAATAAAAAGATACTTTAATTTTTTATGCTAGAATTACATAATTACATAATCAGATGTTTT
AATTTTACCATATAACCTTTAAAAATGATTCATTTTTGAGGATATTTAATTGGATACCAAAGCT
AAAATCCATATACTGTAAGTGGGTTGCCTTTATAGATTGCGGGACACAATAACATGAATGTATT
GTGAAAGCACTTTTAGTTACCTCACTTTCCTCAGTCTTGGAATGTGTATTTTGTGGGATAATGA
TTATCAGAAAAGCAAAAAATTACAACGAACAAATAAATTTATATAATATATCCAA

hide sequence

RefSeq Acc Id:

NM_017632 ⟹ NP_060102

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	183,444,636 - 183,449,064 (+)	NCBI
GRCh37	4	184,365,788 - 184,369,348 (+)	NCBI
Build 36	4	184,602,783 - 184,606,043 (+)	NCBI Archive
Celera	4	181,698,578 - 181,701,840 (+)	RGD
HuRef	4	180,125,202 - 180,128,464 (+)	RGD
CHM1_1	4	184,342,463 - 184,346,941 (+)	NCBI
T2T-CHM13v2.0	4	186,787,446 - 186,791,876 (+)	NCBI

Sequence:

show sequence

AGTGGGCGGTTCGGCGGCTCTGGGCGCTGTTGTTTGGTCTTTAGGCCTGCGGAGGGGCGTTATC
TGGAGGGCCGCGGGTGCAGGCCGCAGTGACAGGGCCGCTCGCCCCGCTAGTCCTGCCTGTCTCC
CGGTGCAGCTGTGTTCGCGGCCTGCAGGCCCAACATGGCGCAGGAGGTGTCGGAGTACCTGAGC
CAGAACCCGCGGGTGGCAGCCTGGGTGGAGGCGCTGCGCTGCGACGGCGAGACTGACAAACACT
GGCGCCACCGCCGGGATTTTTTGCTTCGCAACGCCGGGGACCTGGCCCCCGCTGGCGGCGCTGC
CTCCGCTAGCACGGATGAAGCTGCCGACGCCGAGAGCGGGACCCGAAACCGGCAGCTGCAGCAG
CTCATCTCCTTTTCCATGGCCTGGGCGAACCACGTCTTCCTCGGGTGCCGATACCCTCAAAAAG
TTATGGATAAAATACTTAGTATGGCTGAAGGCATCAAAGTGACAGATGCTCCAACCTATACAAC
AAGAGATGAACTGGTTGCCAAGGTGAAGAAAAGAGGGATATCGAGTAGCAATGAAGGGGTAGAA
GAGCCATCCAAAAAACGAGTTATAGAAGGAAAAAACAGTTCTGCAGTTGAGCAAGATCACGCAA
AAACCTCTGCCAAGACAGAACGTGCATCAGCTCAGCAGGAAAACAGTTCAACGTGTATAGGGTC
GGCCATCAAATCAGAGAGTGGGAACTCAGCTCGGAGCTCTGGCATCTCCAGTCAGAATAGCTCT
ACAAGTGATGGAGATCGATCTGTTTCCAGCCAAAGCAGCAGCAGCGTTTCCTCTCAGGTAACAA
CGGCAGGATCTGGGAAAGCTTCTGAAGCAGAAGCTCCAGATAAACACGGTTCTGCATCATTTGT
TTCCTTGCTGAAATCCAGTGTGAATAGTCACATGACCCAATCCACTGATTCTAGACAACAAAGT
GGATCACCTAAAAAGAGTGCTTTGGAAGGCTCTTCAGCCTCAGCTTCTCAAAGCAGCTCAGAGA
TCGAGGTGCCCTTGTTGGGCTCCTCAGGAAGCTCAGAGGTAGAATTGCCACTATTGTCTTCCAA
ACCTAGTTCAGAGACAGCTTCAAGTGGGTTAACTTCCAAAACTAGTTCAGAGGCAAGTGTTTCA
TCATCAGTTGCTAAAAACAGTTCCTCATCAGGCACATCCTTACTGACTCCCAAGAGCAGCTCTT
CAACAAATACATCGCTGCTAACTTCCAAGAGCACTTCCCAGGTAGCTGCATCACTACTAGCTTC
CAAGAGCAGCTCCCAGACCAGTGGATCTCTGGTTTCCAAAAGCACTTCCTTAGCAAGTGTGTCC
CAGTTGGCTTCTAAGAGTAGTTCTCAGACTAGCACCTCACAGTTGCCTTCTAAAAGTACTTCAC
AGTCAAGTGAGAGTTCTGTCAAATTCTCTTGCAAGTTAACCAATGAAGATGTGAAACAGAAGCA
ACCTTTTTTCAATAGACTATATAAAACGGTGGCATGGAAGTTGGTAGCTGTTGGTGGCTTTAGT
CCCAATGTGAATCATGGAGAGCTCCTAAATGCAGCTATTGAGGCTCTGAAAGCAACACTGGATG
TATTTTTTGTCCCACTAAAAGAATTGGCAGATCTGCCTCAAAATAAGAGCTCTCAAGAAAGTAT
TGTTTGTGAATTGAGGTGCAAGTCTGTGTATTTGGGCACTGGCTGTGGAAAAAGCAAAGAAAAT
GCAAAAGCAGTTGCATCAAGAGAAGCATTGAAGTTATTTCTCAAGAAAAAGGTGGTGGTAAAAA
TATGTAAAAGGAAATACAGAGGCAGTGAAATAGAAGATCTAGTACTCCTTGATGAAGAATCGAG
GCCTGTAAACTTACCTCCAGCACTAAAACATCCTCAAGAATTACTATAATGTGTCCAAAATATC
ACTGCATACAATATCTGGTATTTGAAGAGAAAAACTGACTTTTGTATAGTATAAAACACAGGCT
TTCACAAATTTTGTATTGCTTTTTTTCCAGTTTTGCAGAAAATTTACATTCTAGTTCTCTTCAC
ACAGTAGCAGTTGTAAATAATTTATGAATGACAGTACACATTAAAAGGTATGCATTAGCAGCAT
ATTAGTATGCTGTTTTATTTGCTGAAGAAAATACTGTCTTCTATTTTTAATGATACATTAGGTA
CGATGTGTAGTTCGGTAGAGTCCTAAAATTTTTGTACTACTTTCAATTTGGTGAAAATGTATTA
AGTTGTCTACCATGTTTTCTTTTCTAGCTGAATAAACCACATCAAAGGAAAGGGACCACAGTAT
TTGAATGTTTGAAAGTCTGTAAAGCTTAAGGTTTTAAAAATGTTGCCCGTAATGTTGAACGTGT
CTGTTAAAAAATAAAAGAAAAAATAGTTGCTTCAAACTATTTTTATGAGAAGTTGTAAGCATTT
TTTAGATATAAAGCAGTATAAAGTACTTGTTATTTTACTCTGAAGTTGTTTAAAATTCACCATG
ACTTTGACCGCTGAAGATTCTTTAAGCGGGTTAATTTATGTTTTGAGGTGGAATACAATTTACA
CTTTTTTCTTAAAAACATGAATGTGGGTTTCTATATTAAGCATATTTTGTGACTACTATTAACA
GATTGATTTGTTTAGATATTAAATGCTTTAAGCTATTTTACCTTTTCAAGAAGTTGTGTTTTTT
TTCTCCAAGTCAGAACCAATTCCTGCAAATAGGCTTCCCATGACTTGTCATTATAAATTAGACA
ACCAGGTAATTGTGTGATATACATCTTTATTTAATTTTTTTTTTTACAGCAATCCCCTGAGCCA
GAATAGATTAAAAGCGATTCCCTTCAATTTTCAAATCTAGAACTGGATGGTTTTTGTGTTTATG
CATCTTTTAGAATACCGGAAAGAACAGAGAGCCGTGTTCAGCTCTTGATAATGAGCCTATTCAA
TTTAACTACATTCGTTAAAATGAAGTGGAATTTTGTTTTCGTCTTAGGTGATTCTGCCTGTTTG
TCTGTCATTGTATATTCTGTTTACTTTGCTTCAAACTGGCCCCAAGATGTTATTTTTGTGGTTT
CTGGCTTTCTAGATTCTATTTTTAGATACTGCCCATTGAGCAATAATGGTGATAATATAGAGAG
AAAAGAAAGACCTTTCATGGGCCAGTTGTGTTGGAATAGGAAAATCAAACGTAAGCACAATTTA
AGTATGTAGCAGTTATTCCTATTTTGTATTCTAGGAATAAAAAGATACTTTAATTTTTTATGCT
AGAATTACATAATTACATAATCAGATGTTTTAATTTTACCATATAACCTTTAAAAATGATTCAT
TTTTGAGGATATTTAATTGGATACCAAAGCTAAAATCCATATACTGTAAGTGGGTTGCCTTTAT
AGATTGCGGGACACAATAACATGAATGTATTGTGAAAGCACTTTTAGTTACCTCACTTTCCTCA
GTCTTGGAATGTGTATTTTGTGGGATAATGATTATCAGAAAAGCAAAAAATTACAACGAACAAA
TAAATTTATATAATATATCCAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001304272	(Get FASTA)	NCBI Sequence Viewer
	NP_060102	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF68967	(Get FASTA)	NCBI Sequence Viewer
	AAH22270	(Get FASTA)	NCBI Sequence Viewer
	BAA90902	(Get FASTA)	NCBI Sequence Viewer
	BAG53225	(Get FASTA)	NCBI Sequence Viewer
	CAD98042	(Get FASTA)	NCBI Sequence Viewer
	EAX04691	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000303788
	ENSP00000303788.4
	ENSP00000421308.1
	ENSP00000427108
	ENSP00000427108.1
GenBank Protein	Q9NXV6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_060102 ⟸ NM_017632
- Peptide Label:	isoform 1
- UniProtKB:	Q8TBM5 (UniProtKB/Swiss-Prot), Q9NYH0 (UniProtKB/Swiss-Prot), Q9NXV6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAQEVSEYLSQNPRVAAWVEALRCDGETDKHWRHRRDFLLRNAGDLAPAGGAASASTDEAADAE SGTRNRQLQQLISFSMAWANHVFLGCRYPQKVMDKILSMAEGIKVTDAPTYTTRDELVAKVKKR GISSSNEGVEEPSKKRVIEGKNSSAVEQDHAKTSAKTERASAQQENSSTCIGSAIKSESGNSAR SSGISSQNSSTSDGDRSVSSQSSSSVSSQVTTAGSGKASEAEAPDKHGSASFVSLLKSSVNSHM TQSTDSRQQSGSPKKSALEGSSASASQSSSEIEVPLLGSSGSSEVELPLLSSKPSSETASSGLT SKTSSEASVSSSVAKNSSSSGTSLLTPKSSSSTNTSLLTSKSTSQVAASLLASKSSSQTSGSLV SKSTSLASVSQLASKSSSQTSTSQLPSKSTSQSSESSVKFSCKLTNEDVKQKQPFFNRLYKTVA WKLVAVGGFSPNVNHGELLNAAIEALKATLDVFFVPLKELADLPQNKSSQESIVCELRCKSVYL GTGCGKSKENAKAVASREALKLFLKKKVVVKICKRKYRGSEIEDLVLLDEESRPVNLPPALKHP QELL hide sequence

RefSeq Acc Id:	NP_001304272 ⟸ NM_001317343
- Peptide Label:	isoform 2
- UniProtKB:	J3KNE1 (UniProtKB/TrEMBL), D6RGD2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAQEVSEYLSQNPRVAAWVEALRCDGETDKHWRHRRDFLLRNAGDLAPAGGAASASTDEAADAE SGTRNRQLQQLISFSMAWANHVFLGCRYPQKVMDKILSMAEGIKVTDAPTYTTRDELVAKKG hide sequence

RefSeq Acc Id:

ENSP00000427108 ⟸ ENST00000504169

RefSeq Acc Id:

ENSP00000421308 ⟸ ENST00000510928

RefSeq Acc Id:

ENSP00000303788 ⟸ ENST00000302350

Protein Domains

DRBM XRN2-binding (XTBD)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9NXV6-F1-model_v2	AlphaFold	Q9NXV6	1-580	view protein structure

Promoters

RGD ID:

6868984

Promoter ID:

EPDNEW_H7657

Type:

initiation region

Name:

CDKN2AIP_1

Description:

CDKN2A interacting protein

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	4	183,444,636 - 183,444,696	EPDNEW

RGD ID:

6802116

Promoter ID:

HG_KWN:49553

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000302350, UC003IVQ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	184,602,116 - 184,602,897 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24325	AgrOrtholog
COSMIC	CDKN2AIP	COSMIC
Ensembl Genes	ENSG00000168564	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000302350	ENTREZGENE
	ENST00000302350.4	UniProtKB/TrEMBL
	ENST00000504169	ENTREZGENE
	ENST00000504169.2	UniProtKB/Swiss-Prot
	ENST00000510928.1	UniProtKB/TrEMBL
GTEx	ENSG00000168564	GTEx
HGNC ID	HGNC:24325	ENTREZGENE
Human Proteome Map	CDKN2AIP	Human Proteome Map
InterPro	dsRBD_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	XTBD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:55602	UniProtKB/Swiss-Prot
NCBI Gene	55602	ENTREZGENE
OMIM	615914	OMIM
PANTHER	CDKN2A-INTERACTING PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	NF-KAPPA-B-REPRESSING FACTOR-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	XTBD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162382149	PharmGKB
PROSITE	DS_RBD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	XTBD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	dsRNA-binding domain-like	UniProtKB/TrEMBL
UniProt	B3KTW3_HUMAN	UniProtKB/TrEMBL
	CARF_HUMAN	UniProtKB/Swiss-Prot
	D6RGD2	ENTREZGENE, UniProtKB/TrEMBL
	J3KNE1	ENTREZGENE, UniProtKB/TrEMBL
	Q8TBM5	ENTREZGENE
	Q9NXV6	ENTREZGENE
	Q9NYH0	ENTREZGENE
UniProt Secondary	Q8TBM5	UniProtKB/Swiss-Prot
	Q9NYH0	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)

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar