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Gene: KRTAP20-1 (keratin associated protein 20-1) Homo sapiens

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Symbol:

KRTAP20-1

Name:

keratin associated protein 20-1

RGD ID:

1344445

HGNC Page

HGNC:18943

Description:

Predicted to be located in cytosol.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

KAP20.1; keratin-associated protein 20-1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	21	30,616,425 - 30,616,699 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	30,616,425 - 30,616,699 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	31,988,744 - 31,989,018 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	30,910,645 - 30,910,815 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	21	30,910,644 - 30,910,815	NCBI
Celera	21	17,172,204 - 17,172,374 (+)	NCBI		Celera
Cytogenetic Map	21	q22.11	NCBI
HuRef	21	17,397,569 - 17,397,739 (+)	NCBI		HuRef
CHM1_1	21	31,550,505 - 31,550,675 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	21	28,983,365 - 28,983,639 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KRTAP20-1	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of KRTAP20-1 gene	CTD	PMID:27153756
KRTAP20-1	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of KRTAP20-1 promoter	CTD	PMID:27901495
KRTAP20-1	Human	cadmium atom	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of KRTAP20-1 mRNA	CTD	PMID:35301059
KRTAP20-1	Human	cadmium dichloride	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of KRTAP20-1 mRNA	CTD	PMID:35301059
KRTAP20-1	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to KRTAP20-1 gene]	CTD	PMID:28238834
KRTAP20-1	Human	titanium dioxide	decreases expression	ISO	Krtap20-21 (Mus musculus)	6480464	titanium dioxide results in decreased expression of KRTAP20-21 mRNA	CTD	PMID:35295148

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KRTAP20-1	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6809663
KRTAP20-1	Human	cytosol	located_in	IEA	ARBA:ARBA00029243	150520179		UniProt	GO_REF:0000117
KRTAP20-1	Human	intermediate filament	located_in	IEA	UniProtKB-KW:KW-0416	150520179		UniProt	GO_REF:0000043

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:12359730	PMID:12477932	PMID:15489334

KRTAP20-1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	21	30,616,425 - 30,616,699 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	21	30,616,425 - 30,616,699 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	21	31,988,744 - 31,989,018 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	21	30,910,645 - 30,910,815 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	21	30,910,644 - 30,910,815	NCBI
Celera	21	17,172,204 - 17,172,374 (+)	NCBI		Celera
Cytogenetic Map	21	q22.11	NCBI
HuRef	21	17,397,569 - 17,397,739 (+)	NCBI		HuRef
CHM1_1	21	31,550,505 - 31,550,675 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	21	28,983,365 - 28,983,639 (+)	NCBI		T2T-CHM13v2.0

Krtap20-21
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	88,954,804 - 88,955,296 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	16	88,954,840 - 88,955,236 (+)	Ensembl		GRCm39 Ensembl
GRCm38	16	89,157,916 - 89,158,408 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	89,157,952 - 89,158,348 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	89,158,159 - 89,158,652 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	16	89,158,159 - 89,158,652 (+)	NCBI		MGSCv36	mm8
Celera	16	89,360,808 - 89,361,297 (+)	NCBI		Celera
Cytogenetic Map	16	C3.3	NCBI
cM Map	16	51.42	NCBI

Krtap20-1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	11	41,844,653 - 41,844,811 (+)	NCBI		GRCr8
mRatBN7.2	11	28,358,441 - 28,358,599 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	11	28,430,089 - 28,430,247 (+)	Ensembl		mRatBN7.2 Ensembl
mRatBN7.2 Ensembl	11	28,419,189 - 28,419,344 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	11	29,008,240 - 29,008,678 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	11	29,008,267 - 29,008,425 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	11	32,626,754 - 32,626,912 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	11	28,066,825 - 28,067,263 (+)	NCBI		Celera
Cytogenetic Map	11	q11	NCBI

LOC130541099
(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	22	26,730,110 - 26,730,384 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	21	21,585,652 - 21,585,926 (+)	NCBI		NHGRI_mPanPan1

LOC119621497
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Vero_WHO_p1.0	NW_023666071	4,114,320 - 4,116,102 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants in KRTAP20-1
5 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 21q21.3-22.11(chr21:29850105-30680142)x3	copy number gain	See cases [RCV000050615]	Chr21:29850105..30680142 [GRCh38] Chr21:31222422..32052460 [GRCh37] Chr21:30144293..30974331 [NCBI36] Chr21:21q21.3-22.11	uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000050445]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	copy number loss	See cases [RCV000052799]	Chr21:14000720..30903065 [GRCh38] Chr21:15373041..32275384 [GRCh37] Chr21:14294912..31197255 [NCBI36] Chr21:21q11.2-22.11	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	copy number gain	See cases [RCV000053040]	Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053042]	Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053043]	Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3	copy number gain	See cases [RCV000053045]	Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053065]	Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	copy number gain	See cases [RCV000053067]	Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053068]	Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	copy number gain	See cases [RCV000053039]	Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000135310]	Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	copy number gain	See cases [RCV000133676]	Chr21:7749532..42971047 [GRCh38] Chr21:15499847..44391157 [GRCh37] Chr21:14421718..43264226 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	copy number gain	See cases [RCV000134727]	Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	copy number gain	See cases [RCV000134509]	Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134119]	Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	copy number gain	See cases [RCV000134836]	Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	copy number gain	See cases [RCV000134842]	Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	copy number gain	See cases [RCV000135448]	Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137255]	Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000137337]	Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	copy number loss	See cases [RCV000138095]	Chr21:7749532..37653653 [GRCh38] Chr21:15451032..39025955 [GRCh37] Chr21:14372903..37947825 [NCBI36] Chr21:21p11.2-q22.13	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138216]	Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	copy number gain	See cases [RCV000138436]	Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3	pathogenic\|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	copy number gain	See cases [RCV000140103]	Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	copy number gain	See cases [RCV000141346]	Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000141827]	Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3	uncertain significance
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	copy number loss	See cases [RCV000141575]	Chr21:29880468..36062331 [GRCh37] Chr21:28802339..34984201 [NCBI36] Chr21:21q21.3-22.12	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	copy number loss	See cases [RCV000142427]	Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	copy number loss	See cases [RCV000142217]	Chr21:19423169..31841150 [GRCh38] Chr21:20795486..33213462 [GRCh37] Chr21:19717357..32135333 [NCBI36] Chr21:21q21.1-22.11	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143376]	Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	copy number gain	See cases [RCV000143160]	Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	copy number gain	See cases [RCV000143120]	Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000148131]	Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	copy number gain	See cases [RCV000053069]	Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3	pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	copy number loss	Monosomy 21 [RCV000225665]	Chr21:21754822..32380347 [GRCh38] Chr21:21q21.1-22.11	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	copy number loss	See cases [RCV000239948]	Chr21:15538655..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	copy number gain	See cases [RCV000240397]	Chr21:15410701..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3	copy number gain	See cases [RCV000446716]	Chr21:15006457..43598570 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3	copy number gain	See cases [RCV000448874]	Chr21:29812033..39282854 [GRCh37] Chr21:21q21.3-22.13	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	copy number gain	See cases [RCV000447884]	Chr21:14771770..48080867 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3	copy number gain	See cases [RCV000448199]	Chr21:15006457..44827632 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3	copy number gain	See cases [RCV000447729]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	See cases [RCV000447749]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	copy number gain	See cases [RCV000511589]	Chr21:15006458..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31276879-32826955)x1	copy number loss	See cases [RCV000512419]	Chr21:31276879..32826955 [GRCh37] Chr21:21q21.3-22.11	likely benign
GRCh37/hg19 21q21.3-22.11(chr21:31171624-31990799)x3	copy number gain	not provided [RCV000684153]	Chr21:31171624..31990799 [GRCh37] Chr21:21q21.3-22.11	uncertain significance
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3	copy number gain	not provided [RCV000741419]	Chr21:10827533..48100155 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:30214872-34896962)x3	copy number gain	not provided [RCV000741530]	Chr21:30214872..34896962 [GRCh37] Chr21:21q21.3-22.11	pathogenic
GRCh37/hg19 21q22.11(chr21:31887658-32065821)x1	copy number loss	not provided [RCV000741536]	Chr21:31887658..32065821 [GRCh37] Chr21:21q22.11	benign
GRCh37/hg19 21q22.11(chr21:31933032-31989115)x3	copy number gain	not provided [RCV000741537]	Chr21:31933032..31989115 [GRCh37] Chr21:21q22.11	benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3	copy number gain	not provided [RCV000741413]	Chr21:10699330..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3	copy number gain	not provided [RCV000741415]	Chr21:10704198..48117896 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3	copy number gain	not provided [RCV000741418]	Chr21:10824040..48090629 [GRCh37] Chr21:21p11.2-q22.3	pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1	copy number loss	not provided [RCV001007118]	Chr21:27826100..32468109 [GRCh37] Chr21:21q21.3-22.11	pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31171623-32010342)x3	copy number gain	not provided [RCV000849143]	Chr21:31171623..32010342 [GRCh37] Chr21:21q21.3-22.11	uncertain significance
GRCh37/hg19 21q22.11(chr21:31711916-34632473)x1	copy number loss	not provided [RCV001007125]	Chr21:31711916..34632473 [GRCh37] Chr21:21q22.11	pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31171623-32010342)x3	copy number gain	not provided [RCV000847078]	Chr21:31171623..32010342 [GRCh37] Chr21:21q21.3-22.11	uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31172702-32008007)x3	copy number gain	See cases [RCV001194523]	Chr21:31172702..32008007 [GRCh37] Chr21:21q21.3-22.11	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV000846937]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:30909762-32182012)x1	copy number loss	not provided [RCV002473509]	Chr21:30909762..32182012 [GRCh37] Chr21:21q21.3-22.11	uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31171624-32002762)x3	copy number gain	not provided [RCV001007123]	Chr21:31171624..32002762 [GRCh37] Chr21:21q21.3-22.11	likely benign
GRCh37/hg19 21q21.3-22.11(chr21:31119490-32484078)x1	copy number loss	not provided [RCV001259406]	Chr21:31119490..32484078 [GRCh37] Chr21:21q21.3-22.11	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	copy number gain	Down syndrome [RCV002284306]	Chr21:14420615..48080926 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	copy number gain	See cases [RCV001263025]	Chr21:14629063..48090317 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	copy number gain	See cases [RCV001780078]	Chr21:1..48129895 [GRCh37] Chr21:21p13-q22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	copy number gain	not specified [RCV002052725]	Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	copy number gain	not specified [RCV002052729]	Chr21:29812033..39282854 [GRCh37] Chr21:21q21.3-22.13	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)	copy number gain	not specified [RCV002052723]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	copy number loss	not specified [RCV002052728]	Chr21:27185913..35853445 [GRCh37] Chr21:21q21.3-22.12	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	copy number gain	not specified [RCV002052724]	Chr21:15041209..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	copy number gain	not provided [RCV001829203]	Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31119490-32485971)x1	copy number loss	not provided [RCV001829261]	Chr21:31119490..32485971 [GRCh37] Chr21:21q21.3-22.11	uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3	copy number gain	not provided [RCV002475687]	Chr21:29243314..32472073 [GRCh37] Chr21:21q21.3-22.11	uncertain significance
NM_181615.2(KRTAP20-1):c.4A>G (p.Ile2Val)	single nucleotide variant	not specified [RCV004136357]	Chr21:30616458 [GRCh38] Chr21:31988777 [GRCh37] Chr21:21q22.11	uncertain significance
NM_181615.2(KRTAP20-1):c.101A>C (p.Tyr34Ser)	single nucleotide variant	not specified [RCV004238792]	Chr21:30616555 [GRCh38] Chr21:31988874 [GRCh37] Chr21:21q22.11	uncertain significance
NM_181615.2(KRTAP20-1):c.67G>A (p.Gly23Ser)	single nucleotide variant	not specified [RCV004159860]	Chr21:30616521 [GRCh38] Chr21:31988840 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	copy number gain	not provided [RCV003485218]	Chr21:15006458..45674637 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	copy number gain	not provided [RCV003485220]	Chr21:20408138..32852758 [GRCh37] Chr21:21q21.1-22.11	pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	copy number gain	not specified [RCV003986149]	Chr21:30685776..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	copy number gain	not specified [RCV003986152]	Chr21:26929299..48097372 [GRCh37] Chr21:21q21.3-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	copy number gain	not specified [RCV003986160]	Chr21:15023401..48097372 [GRCh37] Chr21:21q11.2-22.3	pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	copy number gain	not provided [RCV004577449]	Chr21:15380398..48100790 [GRCh37] Chr21:21q11.2-22.3	pathogenic
NM_181615.2(KRTAP20-1):c.73C>T (p.Arg25Cys)	single nucleotide variant	not specified [RCV004937883]	Chr21:30616527 [GRCh38] Chr21:31988846 [GRCh37] Chr21:21q22.11	uncertain significance
GRCh37/hg19 21q21.1-22.11(chr21:20633473-32127174)x1	copy number loss	not provided [RCV004819908]	Chr21:20633473..32127174 [GRCh37] Chr21:21q21.1-22.11	uncertain significance
NM_181615.2(KRTAP20-1):c.80A>G (p.Tyr27Cys)	single nucleotide variant	not specified [RCV004178526]	Chr21:30616534 [GRCh38] Chr21:31988853 [GRCh37] Chr21:21q22.11	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	129
Count of miRNA genes:	128
Interacting mature miRNAs:	129
Transcripts:	ENST00000334664
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2303081	MAMTS49_H	Mammary tumor susceptibility QTL 49 (human)	1.72		Mammary tumor susceptibility		21	17950448	43950448	Human

UniSTS:488030

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	21	31,988,750 - 31,989,005	UniSTS	GRCh37
Build 36	21	30,910,621 - 30,910,876	RGD	NCBI36
Celera	21	17,172,180 - 17,172,435	RGD
HuRef	21	17,397,545 - 17,397,800	UniSTS

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

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
10	19	76	10	145	11	22	9	23	6	142	57	54	2	16	10	128	12	3


RefSeq Transcripts	NM_181615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB096955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001069	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001708	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC104846	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC104872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000334664 ⟹ ENSP00000335503

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	21	30,616,425 - 30,616,699 (+)	Ensembl

RefSeq Acc Id:

NM_181615 ⟹ NP_853646

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	21	30,616,425 - 30,616,699 (+)	NCBI
GRCh37	21	31,988,774 - 31,988,944 (+)	RGD
Build 36	21	30,910,645 - 30,910,815 (+)	NCBI Archive
Celera	21	17,172,204 - 17,172,374 (+)	RGD
HuRef	21	17,397,569 - 17,397,739 (+)	RGD
CHM1_1	21	31,550,505 - 31,550,675 (+)	NCBI
T2T-CHM13v2.0	21	28,983,365 - 28,983,639 (+)	NCBI

Sequence:

show sequence

TCTACACCTGAACCATCCATTTCTGACACCATGATTTACTACAGCAACTATTATGGTGGCTATGGGTATGGTGGGCTTGGCTGTGGCTATGGCTGTGGTTATCGTGGCTATGGATGTGGTTATGGTGG
CTATGGAGGCTATGGAAATGGCTACTACTGCCCATCTTGCTATGGAAGATATTGGTCATATGGTTTCTACTGAACAATTCTAGAGCTCACCAGATTTGTCTGCTTGTGAAACCTGGATTCTCATGCTG
CTCTTGTTCATCTGATCCT

hide sequence


Protein RefSeqs	NP_853646	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI04847	(Get FASTA)	NCBI Sequence Viewer
	AAI04873	(Get FASTA)	NCBI Sequence Viewer
	BAE46370	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000335503
	ENSP00000335503.2
GenBank Protein	Q3LI63	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_853646 ⟸ NM_181615
- UniProtKB:	Q3LI63 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MIYYSNYYGGYGYGGLGCGYGCGYRGYGCGYGGYGGYGNGYYCPSCYGRYWSYGFY hide sequence

Ensembl Acc Id:

ENSP00000335503 ⟸ ENST00000334664

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q3LI63-F1-model_v2	AlphaFold	Q3LI63	1-56	view protein structure

Database	Acc Id	Source(s)
COSMIC	KRTAP20-1	COSMIC
Ensembl Genes	ENSG00000244624	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000334664	ENTREZGENE
	ENST00000334664.3	UniProtKB/Swiss-Prot
GTEx	ENSG00000244624	GTEx
HGNC ID	HGNC:18943	ENTREZGENE
Human Proteome Map	KRTAP20-1	Human Proteome Map
InterPro	KRTAP_matrix	UniProtKB/Swiss-Prot
	KRTAP_type6/8/16/19/20/21	UniProtKB/Swiss-Prot
KEGG Report	hsa:337975	UniProtKB/Swiss-Prot
NCBI Gene	337975	ENTREZGENE
PANTHER	KERATIN-ASSOCIATED PROTEIN 20-1	UniProtKB/Swiss-Prot
	KERATIN-ASSOCIATED PROTEIN 20-2	UniProtKB/Swiss-Prot
Pfam	KRTAP	UniProtKB/Swiss-Prot
PharmGKB	PA134953935	PharmGKB
UniProt	KR201_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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