ATG4A (autophagy related 4A cysteine peptidase)

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Gene: ATG4A (autophagy related 4A cysteine peptidase) Homo sapiens

Analyze

Symbol:

ATG4A

Name:

autophagy related 4A cysteine peptidase

RGD ID:

1604759

HGNC Page

HGNC

Description:

Exhibits cysteine-type peptidase activity. Involved in proteolysis. Predicted to localize to cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

APG4 autophagy 4 homolog A; APG4A; ATG4 autophagy related 4 homolog A; AUT-like 2 cysteine endopeptidase; AUT-like 2, cysteine endopeptidase; AUTL2; autophagin 2; autophagin-2; autophagy related 4A, cysteine peptidase; autophagy-related cysteine endopeptidase 2; autophagy-related protein 4 homolog A; cysteine protease ATG4A; hAPG4A

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Related Pseudogenes:

ATG4AP1

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.p13 Ensembl	X	108,091,668 - 108,154,671 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	108,091,778 - 108,154,671 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	107,335,008 - 107,397,901 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	107,221,590 - 107,284,552 (+)	NCBI	NCBI36		hg18	NCBI36
Celera	X	107,806,406 - 107,869,363 (+)	NCBI
Cytogenetic Map	X	q22.3	NCBI
HuRef	X	96,957,585 - 97,020,331 (+)	NCBI		HuRef
CHM1_1	X	107,245,773 - 107,308,734 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

X-linked Alport syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

3-methyladenine (ISO)

4-hydroxyphenyl retinamide (ISO)

acrylamide (EXP)

aflatoxin B2 (EXP)

Aroclor 1254 (ISO)

atrazine (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium dichloride (EXP,ISO)

cisplatin (EXP)

cobalt dichloride (EXP)

cyclosporin A (EXP)

disodium selenite (EXP)

dorsomorphin (EXP)

isotretinoin (EXP)

lycopene (ISO)

methotrexate (EXP)

methylisothiazolinone (EXP)

N-acetyl-L-cysteine (EXP)

paracetamol (EXP,ISO)

perfluorononanoic acid (EXP)

potassium chromate (EXP)

SB 431542 (EXP)

sirolimus (ISO)

sunitinib (EXP)

triptonide (ISO)

troglitazone (EXP)

tungsten (ISO)

urethane (EXP)

valproic acid (EXP)

vinclozolin (ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

autophagy (IEA)

protein transport (IEA)

proteolysis (IDA,IEA)

Cellular Component

cytoplasm (IEA)

Molecular Function

cysteine-type endopeptidase activity (IEA)

cysteine-type peptidase activity (IDA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

autophagy pathway (IEA,TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Schizophrenia (IAGP)

References

References - curated


1.	Pipeline to import KEGG annotations from KEGG into RGD
2.	RGD automated import pipeline for gene-chemical interactions
3.	Tanida I, etal., Int J Biochem Cell Biol. 2004 Dec;36(12):2503-18.

Additional References at PubMed

PMID:12473658	PMID:12477932	PMID:14702039	PMID:15169837	PMID:15489334	PMID:15772651	PMID:17207965	PMID:17347651	PMID:20010802	PMID:20819778	PMID:21122541	PMID:21177865
PMID:21297227	PMID:21873635	PMID:23508006	PMID:24100292	PMID:24229464	PMID:24256813	PMID:25416956	PMID:25426560	PMID:25490467	PMID:26061994	PMID:26186194	PMID:26496610
PMID:27276686	PMID:28253956	PMID:28287329	PMID:28514442	PMID:30661429	PMID:31006538	PMID:32296183	PMID:32384281	PMID:32732290

Genomics

Comparative Map Data

ATG4A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	X	108,091,668 - 108,154,671 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	108,091,778 - 108,154,671 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	107,335,008 - 107,397,901 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	107,221,590 - 107,284,552 (+)	NCBI	NCBI36		hg18	NCBI36
Celera	X	107,806,406 - 107,869,363 (+)	NCBI
Cytogenetic Map	X	q22.3	NCBI
HuRef	X	96,957,585 - 97,020,331 (+)	NCBI		HuRef
CHM1_1	X	107,245,773 - 107,308,734 (+)	NCBI		CHM1_1

Atg4a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	139,854,594 - 139,947,190 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	X	139,857,656 - 139,947,266 (+)	Ensembl
GRCm38	X	140,953,845 - 141,164,194 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	140,956,907 - 141,164,270 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	137,593,241 - 137,598,813 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv37	X	137,491,456 - 137,529,979 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	X	136,303,271 - 136,342,019 (+)	NCBI			mm8
Celera	X	124,212,154 - 124,250,668 (+)	NCBI		Celera
Celera	X	125,167,353 - 125,172,805 (+)	NCBI		Celera
Cytogenetic Map	X	F1	NCBI

Atg4a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	X	104,665,345 - 104,765,271 (+)	NCBI
Rnor_6.0	X	112,328,907 - 112,403,157 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	3	52,231,912 - 52,273,743 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	X	104,178,429 - 104,184,592 (+)	NCBI		Celera
Cytogenetic Map	X	q33	NCBI

Atg4a
(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_004955490	7,762,623 - 7,788,705 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955490	7,765,145 - 7,825,126 (-)	NCBI	ChiLan1.0	ChiLan1.0

ATG4A
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	X	107,559,639 - 107,623,389 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	107,559,639 - 107,623,389 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	X	97,189,556 - 97,253,371 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

ATG4A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	81,629,346 - 81,688,086 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	81,629,465 - 81,688,099 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	67,753,046 - 67,808,661 (+)	NCBI
ROS_Cfam_1.0	X	83,281,769 - 83,337,418 (+)	NCBI
UMICH_Zoey_3.1	X	80,740,818 - 80,796,428 (+)	NCBI
UNSW_CanFamBas_1.0	X	82,453,368 - 82,509,012 (+)	NCBI
UU_Cfam_GSD_1.0	X	82,244,510 - 82,299,838 (+)	NCBI

Atg4a
(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	X	80,966,279 - 81,016,771 (+)	NCBI
SpeTri2.0	NW_004936499	6,641,192 - 6,691,685 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ATG4A
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	88,545,924 - 88,633,321 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	88,545,924 - 88,633,328 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	103,050,536 - 103,071,241 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ATG4A
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	95,936,385 - 96,011,541 (+)	NCBI
ChlSab1.1 Ensembl	X	95,983,662 - 96,010,578 (+)	Ensembl

Atg4a
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624803	8,336,123 - 8,407,354 (-)	NCBI

Position Markers

AL022448

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,362,765 - 107,362,885	UniSTS	GRCh37
Build 36	X	107,249,421 - 107,249,541	RGD	NCBI36
Celera	X	107,834,238 - 107,834,358	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	96,985,180 - 96,985,300	UniSTS

RH36508

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,391,494 - 107,391,693	UniSTS	GRCh37
Build 36	X	107,278,150 - 107,278,349	RGD	NCBI36
Celera	X	107,862,961 - 107,863,160	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	97,013,924 - 97,014,123	UniSTS
GeneMap99-GB4 RH Map	X	293.07	UniSTS
NCBI RH Map	X	561.2	UniSTS

RH26790

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,397,749 - 107,397,847	UniSTS	GRCh37
Build 36	X	107,284,405 - 107,284,503	RGD	NCBI36
Celera	X	107,869,216 - 107,869,314	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	97,020,179 - 97,020,277	UniSTS

DXS7882

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,343,436 - 107,343,549	UniSTS	GRCh37
Build 36	X	107,230,092 - 107,230,205	RGD	NCBI36
Celera	X	107,814,908 - 107,815,021	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	96,966,213 - 96,966,326	UniSTS

SHGC-79051

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,380,010 - 107,380,299	UniSTS	GRCh37
Build 36	X	107,266,666 - 107,266,955	RGD	NCBI36
Celera	X	107,851,483 - 107,851,772	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	97,002,539 - 97,002,828	UniSTS
TNG Radiation Hybrid Map	X	24064.0	UniSTS

GDB:642223

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,391,715 - 107,391,864	UniSTS	GRCh37
Build 36	X	107,278,371 - 107,278,520	RGD	NCBI36
Celera	X	107,863,182 - 107,863,331	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	97,014,145 - 97,014,294	UniSTS

SHGC-144818

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,375,717 - 107,376,030	UniSTS	GRCh37
Build 36	X	107,262,373 - 107,262,686	RGD	NCBI36
Celera	X	107,847,190 - 107,847,503	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	96,998,247 - 96,998,560	UniSTS
TNG Radiation Hybrid Map	X	24064.0	UniSTS

WI-18722

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,397,751 - 107,397,853	UniSTS	GRCh37
Build 36	X	107,284,407 - 107,284,509	RGD	NCBI36
Celera	X	107,869,218 - 107,869,320	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	97,020,181 - 97,020,283	UniSTS
GeneMap99-GB4 RH Map	X	287.52	UniSTS
Whitehead-RH Map	X	269.0	UniSTS
NCBI RH Map	X	561.2	UniSTS

DXS8284

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,397,721 - 107,397,853	UniSTS	GRCh37
Build 36	X	107,284,377 - 107,284,509	RGD	NCBI36
Celera	X	107,869,188 - 107,869,320	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	97,020,151 - 97,020,283	UniSTS
TNG Radiation Hybrid Map	X	24086.0	UniSTS
Stanford-G3 RH Map	X	3609.0	UniSTS
NCBI RH Map	X	558.2	UniSTS
GeneMap99-G3 RH Map	X	3744.0	UniSTS

DXS7743

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,337,884 - 107,337,944	UniSTS	GRCh37
Build 36	X	107,224,540 - 107,224,600	RGD	NCBI36
Celera	X	107,809,356 - 107,809,416	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	96,960,571 - 96,960,631	UniSTS

G20822

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,397,686 - 107,397,901	UniSTS	GRCh37
Build 36	X	107,284,342 - 107,284,557	RGD	NCBI36
Celera	X	107,869,153 - 107,869,368	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	97,020,116 - 97,020,331	UniSTS

A006H40

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	107,397,686 - 107,397,901	UniSTS	GRCh37
Build 36	X	107,284,342 - 107,284,557	RGD	NCBI36
Celera	X	107,869,153 - 107,869,368	RGD
Cytogenetic Map	X	q22.1-q22.3	UniSTS
HuRef	X	97,020,116 - 97,020,331	UniSTS
GeneMap99-GB4 RH Map	X	283.31	UniSTS
NCBI RH Map	X	561.2	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4544
Count of miRNA genes:	1154
Interacting mature miRNAs:	1411
Transcripts:	ENST00000343524, ENST00000345734, ENST00000372232, ENST00000372246, ENST00000372254, ENST00000394892, ENST00000457035, ENST00000474825, ENST00000489247, ENST00000545696
Prediction methods:	Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

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

1161

957

1365

304

1042

239

2095

1157

1097

273

529

1529

626

1489

Low

1276

2033

360

320

908

225

2261

1038

2628

146

923

102

578

1299

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001321287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001321290	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_052936	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_178270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_178271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_135608	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011530842	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA648264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB066214	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ320508	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ320509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ504651	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK054927	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK123287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293533	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314429	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031177	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC041862	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC061696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM541631	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000343524 ⟹ ENSP00000341833

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	108,091,810 - 108,154,671 (+)	Ensembl

RefSeq Acc Id:

ENST00000345734 ⟹ ENSP00000298131

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	108,091,668 - 108,154,671 (+)	Ensembl

RefSeq Acc Id:

ENST00000372232 ⟹ ENSP00000361306

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	108,091,778 - 108,154,671 (+)	Ensembl

RefSeq Acc Id:

ENST00000372246 ⟹ ENSP00000361320

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	108,091,784 - 108,154,671 (+)	Ensembl

RefSeq Acc Id:

ENST00000394892 ⟹ ENSP00000378354

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	108,126,077 - 108,151,858 (+)	Ensembl

RefSeq Acc Id:

ENST00000457035 ⟹ ENSP00000416218

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	108,091,769 - 108,150,175 (+)	Ensembl

RefSeq Acc Id:

ENST00000474825

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	108,150,032 - 108,153,010 (+)	Ensembl

RefSeq Acc Id:

ENST00000489247

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	108,150,068 - 108,153,868 (+)	Ensembl

RefSeq Acc Id:

NM_001321287 ⟹ NP_001308216

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,091,778 - 108,154,671 (+)	NCBI
CHM1_1	X	107,245,773 - 107,308,734 (+)	NCBI

Sequence:

show sequence

GGGAGTTGCAGTTTGAGAGCAGTTCCGGGCAGGGAGGCGCCTTTGCTGCCCTCACAGACTTGGC
CCCTAGCAGTGCAGAACTACAAGTCCCAGGGATCCTAGCGACCGTCCGTCCGTAGTCAAGTTGC
CGGTGGAATTGGCCCAGGATGACAGCTGGAGAATGGAGTCAGGTACGGGGAGCGGCTTTGAGTG
GAACCGTGTGAAAGAGCCGGGGTGGGTAGTCGCTGGCGGGTCGTTGAGTCGGCCATATGAAACA
GGTTCGGGGGCAGGGCAAGAGTTATGAGAGCCTAAAGGTCCTGTCCCCCGGGGTTCCTGACCTG
CAGTGGCAGGCGGAAGGGACAAGGGTTGGAGCTGAGTACTACCTACTGAGCTCGAACCGGTGAC
TGTGGCTACCCTCCCCCTCCCTGCCACCGCCTAGGGAGTGGAAAGAAGTGGGGGTTAATTACTC
TGACATCTCGGCGGTGTGGCATCAGGACAGGGTTCTACCACAGCAGTGATAGCATATGGCACCG
TACTGAGGTGATGTGCCAGGGTGATGCCAAAGGCAGGGTGTGATGCCGTGGGAGCCACCTGATA
TCTAAGAGACCTCGTTTTATCCAAGTATGAAGATCAGATTACTATTTTCACTGACTACCTAGAA
GAATATCCAGATACAGATGAGCTGGTATGGATCTTAGGGAAGCAGCATCTCCTTAAAACAGATT
GGGAAAGAAAGACCTTTTAACCTGAAACTGCTAACAGCCCAGCACCCAGATAAAGCCAGAGCTT
GGAAAGAGGCAGCTCTGAGATTTGTGTCTTTCTGAGGAGACATCCTCTTCAGAGGCCCTCACTT
AGCGTGGAGGAAGGAACAGGAAGAGGCTGATGAAAAGGCAGGAGAGGAAGTTAGGCATTGTGGA
GCTCCTCCTGAGCCTGGCTTCATTATTTTGATTGGAGAATTCTGAACAGTGGAAAGCCTGGAGC
TAGCAATTAGGAGACCTTTTGTATTCAGACTCTTCTAACTCAGAAAAATCTAAGCTGTTGTCTG
ATATAAGTGCTCGTCTATGGTTTACATACAGAAGGAAATTTTCACCAATTGGTGGAACGGGCCC
TTCATCAGATGCTGGTTGGGGATGTATGCTACGCTGTGGACAGATGATGCTGGCTCAAGCCCTT
ATCTGTAGACACTTGGGAAGGGACTGGAGCTGGGAGAAACAAAAAGAACAACCCAAAGAATACC
AACGCATCCTACAGTGCTTCTTAGATAGAAAAGATTGTTGCTACTCTATCCATCAAATGGCACA
AATGGGTGTAGGAGAAGGGAAATCAATTGGAGAATGGTTTGGACCAAATACAGTTGCACAGGTG
TTAAAAAAACTTGCTTTATTTGACGAATGGAATTCCTTGGCTGTTTATGTTTCAATGGATAACA
CAGTGGTCATTGAAGATATCAAAAAAATGTGCCGTGTCCTTCCCTTGAGTGCTGACACAGCTGG
TGACAGGCCTCCCGATTCTTTAACTGCTTCAAACCAGAGTAAGGGCACCTCTGCCTACTGCTCA
GCCTGGAAACCCCTGCTGCTCATTGTGCCCCTTCGCCTGGGCATAAACCAAATCAATCCTGTCT
ATGTTGATGCATTCAAAGAGTGTTTTAAGATGCCACAGTCTTTAGGGGCATTAGGAGGAAAACC
AAATAACGCGTATTATTTCATAGGATTCTTAGGTGACGAGCTCATCTTCTTGGACCCTCATACA
ACCCAGACCTTTGTTGACACTGAAGAGAATGGAACGGTTAATGACCAGACTTTCCATTGCCTGC
AGTCCCCACAGCGAATGAACATCCTAAACCTGGATCCTTCAGTTGCATTGGGATTTTTCTGCAA
AGAAGAAAAAGACTTTGATAACTGGTGTAGCCTTGTTCAGAAGGAAATTCTAAAGGAGAATTTA
AGGATGTTTGAATTAGTTCAGAAACATCCATCACACTGGCCTCCCTTTGTACCTCCAGCCAAGC
CAGAAGTGACAACCACTGGGGCAGAATTCATTGACTCTACTGAGCAACTGGAGGAGTTTGATCT
GGAGGAAGATTTTGAGATTCTGAGTGTGTAGAATCCTGGGAACTCAACTTGAAGGTCTGTCTTC
CATCTGGCACCATAAAAACATGAACTTATTGCATAAAACTTTTCTAGTCAGCAAGTGCCTGATA
TGCCAATAGCATACAAACTCAATAGCAATCATGACTGAGCCAATCACTGTTTCTCAGAAAAACA
AAACAAAACAAAACAAATGACAGTAACCCTTCCCCGGAAAGAAATAGAACAATCATGGAGCCTA
GGAGCAGAGAGATGAGGAGGAGTTCATTGCTTCCCAGCTTGTGTTATATGGCTACAGCAAGTCT
TCAGCTGCTGCAATGAGGAAATGGGCATCTGGAAGACAAACAGCAACTCTCAGCTTGCTTCAAG
AACCAGCAGATAAGAGATGGTTAAGCTGTTCTTCACCCTTTCAGATGTGACCTCTTTTGGACTA
AGCAGCAATCTGTTCTCTTGCTCAAATAATAAAGTGACTGAATCAGGGAGGAAAAGGTTCTTGT
TAAATTATTTGATTGTGTAGTTGAAGTAATTATAATTTATATCAAAACGTTTGTCAAAGAAACG
ATGTCAAATATACACTTCTTGATCTCCCTTCTGTTTGCGGGGATCTTACTATTTGATGGGTCAC
TGTCCCCATTCTTACTGATACTTTTGTCAGATATCACCCTGTCCTTAAATCATGATCACTTAAA
TCAGGGGTCAGCAAACTTTTTCTGTAAAGGGCCAGACGGGAAATATTTTGGGCTTTGCAGGCCA
TGCGGCCTCTGTCACATCTACTCAACTCTGCTGTTGACATGCAAAAGCAGCAATAGACAATATG
CGTGTAAATGAGTGTGGCTGTAATCCAAGAAAACTTTATTTACAAAAGCAGGTGGAGGGCTGGG
TTTGGCCTGCAGGCTGTAGCTTGCCAATCAGTGACTTAAATTGTTGATTTTTGTTTGATAAATT
AAAAATAAATTGTGTTTGAAGTATACCCTA

hide sequence

RefSeq Acc Id:

NM_001321288 ⟹ NP_001308217

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,091,778 - 108,154,671 (+)	NCBI
CHM1_1	X	107,245,773 - 107,308,734 (+)	NCBI

Sequence:

show sequence

GGGAGTTGCAGTTTGAGAGCAGTTCCGGGCAGGGAGGCGCCTTTGCTGCCCTCACAGACTTGGC
CCCTAGCAGTGCAGAACTACAAGTCCCAGGGATCCTAGCGACCGTCCGTCCGTAGTCAAGTTGC
CGGTGGAATTGGCCCAGGATGACAGCTGGAGAATGGAGTCAGGTACGGGGAGCGGCTTTGAGTG
GAACCGTGTGAAAGAGCCGGGTTTTATCCAAGTATGAAGATCAGATTACTATTTTCACTGACTA
CCTAGAAGAATATCCAGATACAGATGAGCTGGTATGGATCTTAGGGAAGCAGCATCTCCTTAAA
ACAGAAAAATCTAAGCTGTTGTCTGATATAAGTGCTCGTCTATGGTTTACATACAGAAGGAAAT
TTTCACCAATTGGTGGAACGGGCCCTTCATCAGATGCTGGTTGGGGATGTATGCTACGCTGTGG
ACAGATGATGCTGGCTCAAGCCCTTATCTGTAGACACTTGGGAAGGGACTGGAGCTGGGAGAAA
CAAAAAGAACAACCCAAAGAATACCAACGCATCCTACAGTGCTTCTTAGATAGAAAAGATTGTT
GCTACTCTATCCATCAAATGGCACAAATGGGTGTAGGAGAAGGGAAATCAATTGGAGAATGGTT
TGGACCAAATACAGTTGCACAGGTGTTAAAAAAACTTGCTTTATTTGACGAATGGAATTCCTTG
GCTGTTTATGTTTCAATGGATAACACAGTGGTCATTGAAGATATCAAAAAAATGTGCCGTGTCC
TTCCCTTGAGTGCTGACACAGCTGGTGACAGGCCTCCCGATTCTTTAACTGCTTCAAACCAGAG
TAAGGGCACCTCTGCCTACTGCTCAGCCTGGAAACCCCTGCTGCTCATTGTGCCCCTTCGCCTG
GGCATAAACCAAATCAATCCTGTCTATGTTGATGCATTCAAAGAGTGTTTTAAGATGCCACAGT
CTTTAGGGGCATTAGGAGGAAAACCAAATAACGCGTATTATTTCATAGGATTCTTAGGTGACGA
GCTCATCTTCTTGGACCCTCATACAACCCAGACCTTTGTTGACACTGAAGAGAATGGAACGGTT
AATGACCAGACTTTCCATTGCCTGCAGTCCCCACAGCGAATGAACATCCTAAACCTGGATCCTT
CAGTTGCATTGGGATTTTTCTGCAAAGAAGAAAAAGACTTTGATAACTGGTGTAGCCTTGTTCA
GAAGGAAATTCTAAAGGAGAATTTAAGGATGTTTGAATTAGTTCAGAAACATCCATCACACTGG
CCTCCCTTTGTACCTCCAGCCAAGCCAGAAGTGACAACCACTGGGGCAGAATTCATTGACTCTA
CTGAGCAACTGGAGGAGTTTGATCTGGAGGAAGATTTTGAGATTCTGAGTGTGTAGAATCCTGG
GAACTCAACTTGAAGGTCTGTCTTCCATCTGGCACCATAAAAACATGAACTTATTGCATAAAAC
TTTTCTAGTCAGCAAGTGCCTGATATGCCAATAGCATACAAACTCAATAGCAATCATGACTGAG
CCAATCACTGTTTCTCAGAAAAACAAAACAAAACAAAACAAATGACAGTAACCCTTCCCCGGAA
AGAAATAGAACAATCATGGAGCCTAGGAGCAGAGAGATGAGGAGGAGTTCATTGCTTCCCAGCT
TGTGTTATATGGCTACAGCAAGTCTTCAGCTGCTGCAATGAGGAAATGGGCATCTGGAAGACAA
ACAGCAACTCTCAGCTTGCTTCAAGAACCAGCAGATAAGAGATGGTTAAGCTGTTCTTCACCCT
TTCAGATGTGACCTCTTTTGGACTAAGCAGCAATCTGTTCTCTTGCTCAAATAATAAAGTGACT
GAATCAGGGAGGAAAAGGTTCTTGTTAAATTATTTGATTGTGTAGTTGAAGTAATTATAATTTA
TATCAAAACGTTTGTCAAAGAAACGATGTCAAATATACACTTCTTGATCTCCCTTCTGTTTGCG
GGGATCTTACTATTTGATGGGTCACTGTCCCCATTCTTACTGATACTTTTGTCAGATATCACCC
TGTCCTTAAATCATGATCACTTAAATCAGGGGTCAGCAAACTTTTTCTGTAAAGGGCCAGACGG
GAAATATTTTGGGCTTTGCAGGCCATGCGGCCTCTGTCACATCTACTCAACTCTGCTGTTGACA
TGCAAAAGCAGCAATAGACAATATGCGTGTAAATGAGTGTGGCTGTAATCCAAGAAAACTTTAT
TTACAAAAGCAGGTGGAGGGCTGGGTTTGGCCTGCAGGCTGTAGCTTGCCAATCAGTGACTTAA
ATTGTTGATTTTTGTTTGATAAATTAAAAATAAATTGTGTTTGAAGTATACCCTA

hide sequence

RefSeq Acc Id:

NM_001321289 ⟹ NP_001308218

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,091,778 - 108,154,671 (+)	NCBI
CHM1_1	X	107,245,773 - 107,308,734 (+)	NCBI

Sequence:

show sequence

GGGAGTTGCAGTTTGAGAGCAGTTCCGGGCAGGGAGGCGCCTTTGCTGCCCTCACAGACTTGGC
CCCTAGCAGTGCAGAACTACAAGTCCCAGGGATCCTAGCGACCGTCCGTCCGTAGTCAAGTTGC
CGGTGGAATTGGCCCAGGATGACAGCTGGAGAATGGAGTCAGTTTTATCCAAGTATGAAGATCA
GATTACTATTTTCACTGACTACCTAGAAGAATATCCAGATACAGATGAGCTGGTATGGATCTTA
GGGAAGCAGCATCTCCTTAAAACAGATTGGGAAAGAAAGACCTTTTAACCTGAAACTGCTAACA
GCCCAGCACCCAGATAAAGCCAGAGCTTGGAAAGAGGCAGCTCTGAGATTTGTGTCTTTCTGAG
GAGACATCCTCTTCAGAGGCCCTCACTTAGCGTGGAGGAAGGAACAGGAAGAGGCTGATGAAAA
GGCAGGAGAGGAAGTTAGGCATTGTGGAGCTCCTCCTGAGCCTGGCTTCATTATTTTGATTGGA
GAATTCTGAACAGTGGAAAGCCTGGAGCTAGCAATTAGGAGACCTTTTGTATTCAGACTCTTCT
AACTCAGAAAAATCTAAGCTGTTGTCTGATATAAGTGCTCGTCTATGGTTTACATACAGAAGGA
AATTTTCACCAATTGGTGGAACGGGCCCTTCATCAGATGCTGGTTGGGGATGTATGCTACGCTG
TGGACAGATGATGCTGGCTCAAGCCCTTATCTGTAGACACTTGGGAAGGGACTGGAGCTGGGAG
AAACAAAAAGAACAACCCAAAGAATACCAACGCATCCTACAGTGCTTCTTAGATAGAAAAGATT
GTTGCTACTCTATCCATCAAATGGCACAAATGGGTGTAGGAGAAGGGAAATCAATTGGAGAATG
GTTTGGACCAAATACAGTTGCACAGGTGTTAAAAAAACTTGCTTTATTTGACGAATGGAATTCC
TTGGCTGTTTATGTTTCAATGGATAACACAGTGGTCATTGAAGATATCAAAAAAATGTGCCGTG
TCCTTCCCTTGAGTGCTGACACAGCTGGTGACAGGCCTCCCGATTCTTTAACTGCTTCAAACCA
GAGTGACGAGCTCATCTTCTTGGACCCTCATACAACCCAGACCTTTGTTGACACTGAAGAGAAT
GGAACGGTTAATGACCAGACTTTCCATTGCCTGCAGTCCCCACAGCGAATGAACATCCTAAACC
TGGATCCTTCAGTTGCATTGGGATTTTTCTGCAAAGAAGAAAAAGACTTTGATAACTGGTGTAG
CCTTGTTCAGAAGGAAATTCTAAAGGAGAATTTAAGGATGTTTGAATTAGTTCAGAAACATCCA
TCACACTGGCCTCCCTTTGTACCTCCAGCCAAGCCAGAAGTGACAACCACTGGGGCAGAATTCA
TTGACTCTACTGAGCAACTGGAGGAGTTTGATCTGGAGGAAGATTTTGAGATTCTGAGTGTGTA
GAATCCTGGGAACTCAACTTGAAGGTCTGTCTTCCATCTGGCACCATAAAAACATGAACTTATT
GCATAAAACTTTTCTAGTCAGCAAGTGCCTGATATGCCAATAGCATACAAACTCAATAGCAATC
ATGACTGAGCCAATCACTGTTTCTCAGAAAAACAAAACAAAACAAAACAAATGACAGTAACCCT
TCCCCGGAAAGAAATAGAACAATCATGGAGCCTAGGAGCAGAGAGATGAGGAGGAGTTCATTGC
TTCCCAGCTTGTGTTATATGGCTACAGCAAGTCTTCAGCTGCTGCAATGAGGAAATGGGCATCT
GGAAGACAAACAGCAACTCTCAGCTTGCTTCAAGAACCAGCAGATAAGAGATGGTTAAGCTGTT
CTTCACCCTTTCAGATGTGACCTCTTTTGGACTAAGCAGCAATCTGTTCTCTTGCTCAAATAAT
AAAGTGACTGAATCAGGGAGGAAAAGGTTCTTGTTAAATTATTTGATTGTGTAGTTGAAGTAAT
TATAATTTATATCAAAACGTTTGTCAAAGAAACGATGTCAAATATACACTTCTTGATCTCCCTT
CTGTTTGCGGGGATCTTACTATTTGATGGGTCACTGTCCCCATTCTTACTGATACTTTTGTCAG
ATATCACCCTGTCCTTAAATCATGATCACTTAAATCAGGGGTCAGCAAACTTTTTCTGTAAAGG
GCCAGACGGGAAATATTTTGGGCTTTGCAGGCCATGCGGCCTCTGTCACATCTACTCAACTCTG
CTGTTGACATGCAAAAGCAGCAATAGACAATATGCGTGTAAATGAGTGTGGCTGTAATCCAAGA
AAACTTTATTTACAAAAGCAGGTGGAGGGCTGGGTTTGGCCTGCAGGCTGTAGCTTGCCAATCA
GTGACTTAAATTGTTGATTTTTGTTTGATAAATTAAAAATAAATTGTGTTTGAAGTATACCCTA
AAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001321290 ⟹ NP_001308219

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,091,778 - 108,154,671 (+)	NCBI
CHM1_1	X	107,245,773 - 107,308,734 (+)	NCBI

Sequence:

show sequence

GGGAGTTGCAGTTTGAGAGCAGTTCCGGGCAGGGAGGCGCCTTTGCTGCCCTCACAGACTTGGC
CCCTAGCAGTGCAGAACTACAAGTCCCAGGGATCCTAGCGACCGTCCGTCCGTAGTCAAGTTGC
CGGTGGAATTGGCCCAGGATGACAGCTGGAGAATGGAGTCAGTTTTATCCAAGTATGAAGATCA
GATTACTATTTTCACTGACTACCTAGAAGAATATCCAGATACAGATGAGCTGGTATGGATCTTA
GGGAAGCAGCATCTCCTTAAAACAGATTGGGAAAGAAAGACCTTTTAACCTGAAACTGCTAACA
GCCCAGCACCCAGATAAAGCCAGAGCTTGGAAAGAGGCAGCTCTGAGATTTGTGTCTTTCTGAG
GAGACATCCTCTTCAGAGGCCCTCACTTAGCGTGGAGGAAGGAACAGGAAGAGGCTGATGAAAA
GGCAGGAGAGGAAGTTAGGCATTGTGGAGCTCCTCCTGAGCCTGGCTTCATTATTTTGATTGGA
GAATTCTGAACAGTGGAAAGCCTGGAGCTAGCAATTAGGAGACCTTTTGTATTCAGACTCTTCT
AACTCAGAAAAATCTAAGCTGTTGTCTGATATAAGTGCTCGTCTATGGTTTACATACAGAAGGA
AATTTTCACCAATTGGTGGAACGGGCCCTTCATCAGATGCTGGTTGGGGATGTATGCTACGCTG
TGGACAGATGATGCTGGCTCAAGCCCTTATCTGTAGACACTTGGGAAGGGACTGGAGCTGGGAG
AAACAAAAAGAACAACCCAAAGAATACCAACGCATCCTACAGTGCTTCTTAGATAGAAAAGATT
GTTGCTACTCTATCCATCAAATGGCACAAATGGGTGTAGGAGAAGGGAAATCAATTGGAGAATG
GTTTGGACCAAATACAGTTGCACAGGTGTTAAAGTAAAAAACTTGCTTTATTTGACGAATGGAA
TTCCTTGGCTGTTTATGTTTCAATGGATAACACAGTGGTCATTGAAGATATCAAAAAAATGTGC
CGTGTCCTTCCCTTGAGTGCTGACACAGCTGGTGACAGGCCTCCCGATTCTTTAACTGCTTCAA
ACCAGAGTAAGGGCACCTCTGCCTACTGCTCAGCCTGGAAACCCCTGCTGCTCATTGTGCCCCT
TCGCCTGGGCATAAACCAAATCAATCCTGTCTATGTTGATGCATTCAAAGAGTGTTTTAAGATG
CCACAGTCTTTAGGGGCATTAGGAGGAAAACCAAATAACGCGTATTATTTCATAGGATTCTTAG
GTGACGAGCTCATCTTCTTGGACCCTCATACAACCCAGACCTTTGTTGACACTGAAGAGAATGG
AACGGTTAATGACCAGACTTTCCATTGCCTGCAGTCCCCACAGCGAATGAACATCCTAAACCTG
GATCCTTCAGTTGCATTGGGATTTTTCTGCAAAGAAGAAAAAGACTTTGATAACTGGTGTAGCC
TTGTTCAGAAGGAAATTCTAAAGGAGAATTTAAGGATGTTTGAATTAGTTCAGAAACATCCATC
ACACTGGCCTCCCTTTGTACCTCCAGCCAAGCCAGAAGTGACAACCACTGGGGCAGAATTCATT
GACTCTACTGAGCAACTGGAGGAGTTTGATCTGGAGGAAGATTTTGAGATTCTGAGTGTGTAGA
ATCCTGGGAACTCAACTTGAAGGTCTGTCTTCCATCTGGCACCATAAAAACATGAACTTATTGC
ATAAAACTTTTCTAGTCAGCAAGTGCCTGATATGCCAATAGCATACAAACTCAATAGCAATCAT
GACTGAGCCAATCACTGTTTCTCAGAAAAACAAAACAAAACAAAACAAATGACAGTAACCCTTC
CCCGGAAAGAAATAGAACAATCATGGAGCCTAGGAGCAGAGAGATGAGGAGGAGTTCATTGCTT
CCCAGCTTGTGTTATATGGCTACAGCAAGTCTTCAGCTGCTGCAATGAGGAAATGGGCATCTGG
AAGACAAACAGCAACTCTCAGCTTGCTTCAAGAACCAGCAGATAAGAGATGGTTAAGCTGTTCT
TCACCCTTTCAGATGTGACCTCTTTTGGACTAAGCAGCAATCTGTTCTCTTGCTCAAATAATAA
AGTGACTGAATCAGGGAGGAAAAGGTTCTTGTTAAATTATTTGATTGTGTAGTTGAAGTAATTA
TAATTTATATCAAAACGTTTGTCAAAGAAACGATGTCAAATATACACTTCTTGATCTCCCTTCT
GTTTGCGGGGATCTTACTATTTGATGGGTCACTGTCCCCATTCTTACTGATACTTTTGTCAGAT
ATCACCCTGTCCTTAAATCATGATCACTTAAATCAGGGGTCAGCAAACTTTTTCTGTAAAGGGC
CAGACGGGAAATATTTTGGGCTTTGCAGGCCATGCGGCCTCTGTCACATCTACTCAACTCTGCT
GTTGACATGCAAAAGCAGCAATAGACAATATGCGTGTAAATGAGTGTGGCTGTAATCCAAGAAA
ACTTTATTTACAAAAGCAGGTGGAGGGCTGGGTTTGGCCTGCAGGCTGTAGCTTGCCAATCAGT
GACTTAAATTGTTGATTTTTGTTTGATAAATTAAAAATAAATTGTGTTTGAAGTATACCCTA

hide sequence

RefSeq Acc Id:

NM_052936 ⟹ NP_443168

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,091,778 - 108,154,671 (+)	NCBI
GRCh37	X	107,334,899 - 107,397,901 (+)	ENTREZGENE
Build 36	X	107,221,590 - 107,284,552 (+)	NCBI Archive
Celera	X	107,806,406 - 107,869,363 (+)	RGD
HuRef	X	96,957,585 - 97,020,331 (+)	ENTREZGENE
CHM1_1	X	107,245,773 - 107,308,734 (+)	NCBI

Sequence:

show sequence

GGGAGTTGCAGTTTGAGAGCAGTTCCGGGCAGGGAGGCGCCTTTGCTGCCCTCACAGACTTGGC
CCCTAGCAGTGCAGAACTACAAGTCCCAGGGATCCTAGCGACCGTCCGTCCGTAGTCAAGTTGC
CGGTGGAATTGGCCCAGGATGACAGCTGGAGAATGGAGTCAGTTTTATCCAAGTATGAAGATCA
GATTACTATTTTCACTGACTACCTAGAAGAATATCCAGATACAGATGAGCTGGTATGGATCTTA
GGGAAGCAGCATCTCCTTAAAACAGAAAAATCTAAGCTGTTGTCTGATATAAGTGCTCGTCTAT
GGTTTACATACAGAAGGAAATTTTCACCAATTGGTGGAACGGGCCCTTCATCAGATGCTGGTTG
GGGATGTATGCTACGCTGTGGACAGATGATGCTGGCTCAAGCCCTTATCTGTAGACACTTGGGA
AGGGACTGGAGCTGGGAGAAACAAAAAGAACAACCCAAAGAATACCAACGCATCCTACAGTGCT
TCTTAGATAGAAAAGATTGTTGCTACTCTATCCATCAAATGGCACAAATGGGTGTAGGAGAAGG
GAAATCAATTGGAGAATGGTTTGGACCAAATACAGTTGCACAGGTGTTAAAAAAACTTGCTTTA
TTTGACGAATGGAATTCCTTGGCTGTTTATGTTTCAATGGATAACACAGTGGTCATTGAAGATA
TCAAAAAAATGTGCCGTGTCCTTCCCTTGAGTGCTGACACAGCTGGTGACAGGCCTCCCGATTC
TTTAACTGCTTCAAACCAGAGTAAGGGCACCTCTGCCTACTGCTCAGCCTGGAAACCCCTGCTG
CTCATTGTGCCCCTTCGCCTGGGCATAAACCAAATCAATCCTGTCTATGTTGATGCATTCAAAG
AGTGTTTTAAGATGCCACAGTCTTTAGGGGCATTAGGAGGAAAACCAAATAACGCGTATTATTT
CATAGGATTCTTAGGTGACGAGCTCATCTTCTTGGACCCTCATACAACCCAGACCTTTGTTGAC
ACTGAAGAGAATGGAACGGTTAATGACCAGACTTTCCATTGCCTGCAGTCCCCACAGCGAATGA
ACATCCTAAACCTGGATCCTTCAGTTGCATTGGGATTTTTCTGCAAAGAAGAAAAAGACTTTGA
TAACTGGTGTAGCCTTGTTCAGAAGGAAATTCTAAAGGAGAATTTAAGGATGTTTGAATTAGTT
CAGAAACATCCATCACACTGGCCTCCCTTTGTACCTCCAGCCAAGCCAGAAGTGACAACCACTG
GGGCAGAATTCATTGACTCTACTGAGCAACTGGAGGAGTTTGATCTGGAGGAAGATTTTGAGAT
TCTGAGTGTGTAGAATCCTGGGAACTCAACTTGAAGGTCTGTCTTCCATCTGGCACCATAAAAA
CATGAACTTATTGCATAAAACTTTTCTAGTCAGCAAGTGCCTGATATGCCAATAGCATACAAAC
TCAATAGCAATCATGACTGAGCCAATCACTGTTTCTCAGAAAAACAAAACAAAACAAAACAAAT
GACAGTAACCCTTCCCCGGAAAGAAATAGAACAATCATGGAGCCTAGGAGCAGAGAGATGAGGA
GGAGTTCATTGCTTCCCAGCTTGTGTTATATGGCTACAGCAAGTCTTCAGCTGCTGCAATGAGG
AAATGGGCATCTGGAAGACAAACAGCAACTCTCAGCTTGCTTCAAGAACCAGCAGATAAGAGAT
GGTTAAGCTGTTCTTCACCCTTTCAGATGTGACCTCTTTTGGACTAAGCAGCAATCTGTTCTCT
TGCTCAAATAATAAAGTGACTGAATCAGGGAGGAAAAGGTTCTTGTTAAATTATTTGATTGTGT
AGTTGAAGTAATTATAATTTATATCAAAACGTTTGTCAAAGAAACGATGTCAAATATACACTTC
TTGATCTCCCTTCTGTTTGCGGGGATCTTACTATTTGATGGGTCACTGTCCCCATTCTTACTGA
TACTTTTGTCAGATATCACCCTGTCCTTAAATCATGATCACTTAAATCAGGGGTCAGCAAACTT
TTTCTGTAAAGGGCCAGACGGGAAATATTTTGGGCTTTGCAGGCCATGCGGCCTCTGTCACATC
TACTCAACTCTGCTGTTGACATGCAAAAGCAGCAATAGACAATATGCGTGTAAATGAGTGTGGC
TGTAATCCAAGAAAACTTTATTTACAAAAGCAGGTGGAGGGCTGGGTTTGGCCTGCAGGCTGTA
GCTTGCCAATCAGTGACTTAAATTGTTGATTTTTGTTTGATAAATTAAAAATAAATTGTGTTTG
AAGTATACCCTAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_178270 ⟹ NP_840054

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,091,778 - 108,154,671 (+)	NCBI
GRCh37	X	107,334,899 - 107,397,901 (+)	ENTREZGENE
Build 36	X	107,221,590 - 107,284,552 (+)	NCBI Archive
Celera	X	107,806,406 - 107,869,363 (+)	RGD
HuRef	X	96,957,585 - 97,020,331 (+)	ENTREZGENE
CHM1_1	X	107,245,773 - 107,308,734 (+)	NCBI

Sequence:

show sequence

GGGAGTTGCAGTTTGAGAGCAGTTCCGGGCAGGGAGGCGCCTTTGCTGCCCTCACAGACTTGGC
CCCTAGCAGTGCAGAACTACAAGTCCCAGGGATCCTAGCGACCGTCCGTCCGTAGTCAAGTTGC
CGGTGGAATTGGCCCAGGATGACAGCTGGAGAATGGAGTCAGTTTTATCCAAGTATGAAGATCA
GATTACTATTTTCACTGACTACCTAGAAGAATATCCAGATACAGATGAGCTGGTATGGATCTTA
GGGAAGCAGCATCTCCTTAAAACAGAAAAATCTAAGCTGTTGTCTGATATAAGTGCTCGTCTAT
GGTTTACATACAGAAGGAAATTTTCACCAATTGGTGGAACGGGCCCTTCATCAGATGCTGGTTG
GGGATGTATGCTACGCTGTGGACAGATGATGCTGGCTCAAGCCCTTATCTGTAGACACTTGGGA
AGGGACTGGAGCTGGGAGAAACAAAAAGAACAACCCAAAGAATACCAACGCATCCTACAGTGCT
TCTTAGATAGAAAAGATTGTTGCTACTCTATCCATCAAATGGCACAAATGGGTGTAGGAGAAGG
GAAATCAATTGGAGAATGGTTTGGACCAAATACAGTTGCACAGGTGTTAAAAAAACTTGCTTTA
TTTGACGAATGGAATTCCTTGGCTGTTTATGTTTCAATGGATAACACAGTGGTCATTGAAGATA
TCAAAAAAATGTGCCGTGTCCTTCCCTTGAGTGCTGACACAGCTGGTGACAGGCCTCCCGATTC
TTTAACTGCTTCAAACCAGAGTGACGAGCTCATCTTCTTGGACCCTCATACAACCCAGACCTTT
GTTGACACTGAAGAGAATGGAACGGTTAATGACCAGACTTTCCATTGCCTGCAGTCCCCACAGC
GAATGAACATCCTAAACCTGGATCCTTCAGTTGCATTGGGATTTTTCTGCAAAGAAGAAAAAGA
CTTTGATAACTGGTGTAGCCTTGTTCAGAAGGAAATTCTAAAGGAGAATTTAAGGATGTTTGAA
TTAGTTCAGAAACATCCATCACACTGGCCTCCCTTTGTACCTCCAGCCAAGCCAGAAGTGACAA
CCACTGGGGCAGAATTCATTGACTCTACTGAGCAACTGGAGGAGTTTGATCTGGAGGAAGATTT
TGAGATTCTGAGTGTGTAGAATCCTGGGAACTCAACTTGAAGGTCTGTCTTCCATCTGGCACCA
TAAAAACATGAACTTATTGCATAAAACTTTTCTAGTCAGCAAGTGCCTGATATGCCAATAGCAT
ACAAACTCAATAGCAATCATGACTGAGCCAATCACTGTTTCTCAGAAAAACAAAACAAAACAAA
ACAAATGACAGTAACCCTTCCCCGGAAAGAAATAGAACAATCATGGAGCCTAGGAGCAGAGAGA
TGAGGAGGAGTTCATTGCTTCCCAGCTTGTGTTATATGGCTACAGCAAGTCTTCAGCTGCTGCA
ATGAGGAAATGGGCATCTGGAAGACAAACAGCAACTCTCAGCTTGCTTCAAGAACCAGCAGATA
AGAGATGGTTAAGCTGTTCTTCACCCTTTCAGATGTGACCTCTTTTGGACTAAGCAGCAATCTG
TTCTCTTGCTCAAATAATAAAGTGACTGAATCAGGGAGGAAAAGGTTCTTGTTAAATTATTTGA
TTGTGTAGTTGAAGTAATTATAATTTATATCAAAACGTTTGTCAAAGAAACGATGTCAAATATA
CACTTCTTGATCTCCCTTCTGTTTGCGGGGATCTTACTATTTGATGGGTCACTGTCCCCATTCT
TACTGATACTTTTGTCAGATATCACCCTGTCCTTAAATCATGATCACTTAAATCAGGGGTCAGC
AAACTTTTTCTGTAAAGGGCCAGACGGGAAATATTTTGGGCTTTGCAGGCCATGCGGCCTCTGT
CACATCTACTCAACTCTGCTGTTGACATGCAAAAGCAGCAATAGACAATATGCGTGTAAATGAG
TGTGGCTGTAATCCAAGAAAACTTTATTTACAAAAGCAGGTGGAGGGCTGGGTTTGGCCTGCAG
GCTGTAGCTTGCCAATCAGTGACTTAAATTGTTGATTTTTGTTTGATAAATTAAAAATAAATTG
TGTTTGAAGTATACCCTAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_178271 ⟹ NP_840055

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,091,778 - 108,154,671 (+)	NCBI
CHM1_1	X	107,245,773 - 107,308,734 (+)	NCBI

Sequence:

show sequence

GGGAGTTGCAGTTTGAGAGCAGTTCCGGGCAGGGAGGCGCCTTTGCTGCCCTCACAGACTTGGC
CCCTAGCAGTGCAGAACTACAAGTCCCAGGGATCCTAGCGACCGTCCGTCCGTAGTCAAGTTGC
CGGTGGAATTGGCCCAGGATGACAGCTGGAGAATGGAGTCAGTTTTATCCAAGTATGAAGATCA
GATTACTATTTTCACTGACTACCTAGAAGAATATCCAGATACAGATGAGCTGGTATGGATCTTA
GGGAAGCAGCATCTCCTTAAAACAGATTGGGAAAGAAAGACCTTTTAACCTGAAACTGCTAACA
GCCCAGCACCCAGATAAAGCCAGAGCTTGGAAAGAGGCAGCTCTGAGATTTGTGTCTTTCTGAG
GAGACATCCTCTTCAGAGGCCCTCACTTAGCGTGGAGGAAGGAACAGGAAGAGGCTGATGAAAA
GGCAGGAGAGGAAGTTAGGCATTGTGGAGCTCCTCCTGAGCCTGGCTTCATTATTTTGATTGGA
GAATTCTGAACAGTGGAAAGCCTGGAGCTAGCAATTAGGAGACCTTTTGTATTCAGACTCTTCT
AACTCAGAAAAATCTAAGCTGTTGTCTGATATAAGTGCTCGTCTATGGTTTACATACAGAAGGA
AATTTTCACCAATTGGTGGAACGGGCCCTTCATCAGATGCTGGTTGGGGATGTATGCTACGCTG
TGGACAGATGATGCTGGCTCAAGCCCTTATCTGTAGACACTTGGGAAGGGACTGGAGCTGGGAG
AAACAAAAAGAACAACCCAAAGAATACCAACGCATCCTACAGTGCTTCTTAGATAGAAAAGATT
GTTGCTACTCTATCCATCAAATGGCACAAATGGGTGTAGGAGAAGGGAAATCAATTGGAGAATG
GTTTGGACCAAATACAGTTGCACAGGTGTTAAAAAAACTTGCTTTATTTGACGAATGGAATTCC
TTGGCTGTTTATGTTTCAATGGATAACACAGTGGTCATTGAAGATATCAAAAAAATGTGCCGTG
TCCTTCCCTTGAGTGCTGACACAGCTGGTGACAGGCCTCCCGATTCTTTAACTGCTTCAAACCA
GAGTAAGGGCACCTCTGCCTACTGCTCAGCCTGGAAACCCCTGCTGCTCATTGTGCCCCTTCGC
CTGGGCATAAACCAAATCAATCCTGTCTATGTTGATGCATTCAAAGAGTGTTTTAAGATGCCAC
AGTCTTTAGGGGCATTAGGAGGAAAACCAAATAACGCGTATTATTTCATAGGATTCTTAGGTGA
CGAGCTCATCTTCTTGGACCCTCATACAACCCAGACCTTTGTTGACACTGAAGAGAATGGAACG
GTTAATGACCAGACTTTCCATTGCCTGCAGTCCCCACAGCGAATGAACATCCTAAACCTGGATC
CTTCAGTTGCATTGGGATTTTTCTGCAAAGAAGAAAAAGACTTTGATAACTGGTGTAGCCTTGT
TCAGAAGGAAATTCTAAAGGAGAATTTAAGGATGTTTGAATTAGTTCAGAAACATCCATCACAC
TGGCCTCCCTTTGTACCTCCAGCCAAGCCAGAAGTGACAACCACTGGGGCAGAATTCATTGACT
CTACTGAGCAACTGGAGGAGTTTGATCTGGAGGAAGATTTTGAGATTCTGAGTGTGTAGAATCC
TGGGAACTCAACTTGAAGGTCTGTCTTCCATCTGGCACCATAAAAACATGAACTTATTGCATAA
AACTTTTCTAGTCAGCAAGTGCCTGATATGCCAATAGCATACAAACTCAATAGCAATCATGACT
GAGCCAATCACTGTTTCTCAGAAAAACAAAACAAAACAAAACAAATGACAGTAACCCTTCCCCG
GAAAGAAATAGAACAATCATGGAGCCTAGGAGCAGAGAGATGAGGAGGAGTTCATTGCTTCCCA
GCTTGTGTTATATGGCTACAGCAAGTCTTCAGCTGCTGCAATGAGGAAATGGGCATCTGGAAGA
CAAACAGCAACTCTCAGCTTGCTTCAAGAACCAGCAGATAAGAGATGGTTAAGCTGTTCTTCAC
CCTTTCAGATGTGACCTCTTTTGGACTAAGCAGCAATCTGTTCTCTTGCTCAAATAATAAAGTG
ACTGAATCAGGGAGGAAAAGGTTCTTGTTAAATTATTTGATTGTGTAGTTGAAGTAATTATAAT
TTATATCAAAACGTTTGTCAAAGAAACGATGTCAAATATACACTTCTTGATCTCCCTTCTGTTT
GCGGGGATCTTACTATTTGATGGGTCACTGTCCCCATTCTTACTGATACTTTTGTCAGATATCA
CCCTGTCCTTAAATCATGATCACTTAAATCAGGGGTCAGCAAACTTTTTCTGTAAAGGGCCAGA
CGGGAAATATTTTGGGCTTTGCAGGCCATGCGGCCTCTGTCACATCTACTCAACTCTGCTGTTG
ACATGCAAAAGCAGCAATAGACAATATGCGTGTAAATGAGTGTGGCTGTAATCCAAGAAAACTT
TATTTACAAAAGCAGGTGGAGGGCTGGGTTTGGCCTGCAGGCTGTAGCTTGCCAATCAGTGACT
TAAATTGTTGATTTTTGTTTGATAAATTAAAAATAAATTGTGTTTGAAGTATACCCTAAAAAAA
AAAAAA

hide sequence

RefSeq Acc Id:

NR_135608

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,091,778 - 108,154,671 (+)	NCBI
CHM1_1	X	107,245,773 - 107,308,734 (+)	NCBI

Sequence:

show sequence

GGGAGTTGCAGTTTGAGAGCAGTTCCGGGCAGGGAGGCGCCTTTGCTGCCCTCACAGACTTGGC
CCCTAGCAGTGCAGAACTACAAGTCCCAGGGATCCTAGCGACCGTCCGTCCGTAGTCAAGTTGC
CGGTGGAATTGGCCCAGGATGACAGCTGGAGAATGGAGTCAGTTTTATCCAAGTATGAAGATCA
GATTACTATTTTCACTGACTACCTAGAAGAATATCCAGATACAGATGAGCTGGTATGGATCTTA
GGGAAGCAGCATCTCCTTAAAACAGAAAAATCTAAGCTGTTGTCTGATATAAGTGCTCGTCTAT
GGTTTACATACAGAAGGAAATTTTCACCAATTGGTGGAACGGGCCCTTCATCAGATGCTGGTTG
GGGATGTATGCTACGCTGTGGACAGATGATGCTGGCTCAAGCCCTTATCTGTAGACACTTGGGA
AGGGACTGGAGCTGGGAGAAACAAAAAGAACAACCCAAAGAATACCAACGCATCCTACAGTGCT
TCTTAGATAGAAAAGATTGTTGCTACTCTATCCATCAAATGGCACAAATGGGTGTAGGAGAAGG
GAAATCAATTGGAGAATGGTTTGGACCAAATACAGTTGCACAGGTGTTAAAAAAACTTGCTTTA
TTTGACGAATGGAATTCCTTGGCTGTTTATGTTTCAATGGATAACACAGTGGTCATTGAAGATA
TCAAAAAAATGTGCCGTGTCCTTCCCTTGAGTGCTGACACAGCTGGTGACAGGCCTCCCGATTC
TTTAACTGCTTCAAACCAGAGTAAGGGCACCTCTGCCTACTGCTCAGCCTGGAAACCCCTGCTG
CTCATTGTGCCCCTTCGCCTGGGCATAAACCAAATCAATCCTGTCTATGTTGATGCATTCAAAG
TAAGTCACTTCTTTCCCTGAGCCCATTGCTGCCTGCCCATCACACCGCCATCTCAGCACAGAGA
TCCGTGAGCAGCAGTCCACAAGTGACGAGCTCATCTTCTTGGACCCTCATACAACCCAGACCTT
TGTTGACACTGAAGAGAATGGAACGGTTAATGACCAGACTTTCCATTGCCTGCAGTCCCCACAG
CGAATGAACATCCTAAACCTGGATCCTTCAGTTGCATTGGGATTTTTCTGCAAAGAAGAAAAAG
ACTTTGATAACTGGTGTAGCCTTGTTCAGAAGGAAATTCTAAAGGAGAATTTAAGGATGTTTGA
ATTAGTTCAGAAACATCCATCACACTGGCCTCCCTTTGTACCTCCAGCCAAGCCAGAAGTGACA
ACCACTGGGGCAGAATTCATTGACTCTACTGAGCAACTGGAGGAGTTTGATCTGGAGGAAGATT
TTGAGATTCTGAGTGTGTAGAATCCTGGGAACTCAACTTGAAGGTCTGTCTTCCATCTGGCACC
ATAAAAACATGAACTTATTGCATAAAACTTTTCTAGTCAGCAAGTGCCTGATATGCCAATAGCA
TACAAACTCAATAGCAATCATGACTGAGCCAATCACTGTTTCTCAGAAAAACAAAACAAAACAA
AACAAATGACAGTAACCCTTCCCCGGAAAGAAATAGAACAATCATGGAGCCTAGGAGCAGAGAG
ATGAGGAGGAGTTCATTGCTTCCCAGCTTGTGTTATATGGCTACAGCAAGTCTTCAGCTGCTGC
AATGAGGAAATGGGCATCTGGAAGACAAACAGCAACTCTCAGCTTGCTTCAAGAACCAGCAGAT
AAGAGATGGTTAAGCTGTTCTTCACCCTTTCAGATGTGACCTCTTTTGGACTAAGCAGCAATCT
GTTCTCTTGCTCAAATAATAAAGTGACTGAATCAGGGAGGAAAAGGTTCTTGTTAAATTATTTG
ATTGTGTAGTTGAAGTAATTATAATTTATATCAAAACGTTTGTCAAAGAAACGATGTCAAATAT
ACACTTCTTGATCTCCCTTCTGTTTGCGGGGATCTTACTATTTGATGGGTCACTGTCCCCATTC
TTACTGATACTTTTGTCAGATATCACCCTGTCCTTAAATCATGATCACTTAAATCAGGGGTCAG
CAAACTTTTTCTGTAAAGGGCCAGACGGGAAATATTTTGGGCTTTGCAGGCCATGCGGCCTCTG
TCACATCTACTCAACTCTGCTGTTGACATGCAAAAGCAGCAATAGACAATATGCGTGTAAATGA
GTGTGGCTGTAATCCAAGAAAACTTTATTTACAAAAGCAGGTGGAGGGCTGGGTTTGGCCTGCA
GGCTGTAGCTTGCCAATCAGTGACTTAAATTGTTGATTTTTGTTTGATAAATTAAAAATAAATT
GTGTTTGAAGTATACCCTA

hide sequence

RefSeq Acc Id:

XM_011530842 ⟹ XP_011529144

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,091,784 - 108,154,671 (+)	NCBI

Sequence:

show sequence

AGTCAAGTTGCCGGTGGAATTGGCCCAGGATGACAGCTGGAGAATGGAGTCAGGTACGGGGAGC
GGCTTTGAGTGGAACCGTGTGAAAGAGCCGGGTTTTATCCAAGTATGAAGATCAGATTACTATT
TTCACTGACTACCTAGAAGAATATCCAGATACAGATGAGCTGGTATGGATCTTAGGGAAGCAGC
ATCTCCTTAAAACAGATTGGGAAAGAAAGACCTTTTAACCTGAAACTGCTAACAGCCCAGCACC
CAGATAAAGCCAGAGCTTGGAAAGAGGCAGCTCTGAGATTTGTGTCTTTCTGAGGAGACATCCT
CTTCAGAGGCCCTCACTTAGCGTGGAGGAAGGAACAGGAAGAGGCTGATGAAAAGGCAGGAGAG
GAAGTTAGGCATTGTGGAGCTCCTCCTGAGCCTGGCTTCATTATTTTGATTGGAGAATTCTGAA
CAGTGGAAAGCCTGGAGCTAGCAATTAGGAGACCTTTTGTATTCAGACTCTTCTAACTCAGAAA
AATCTAAGCTGTTGTCTGATATAAGTGCTCGTCTATGGTTTACATACAGAAGGAAATTTTCACC
AATTGGTGGAACGGGCCCTTCATCAGATGCTGGTTGGGGATGTATGCTACGCTGTGGACAGATG
ATGCTGGCTCAAGCCCTTATCTGTAGACACTTGGGAAGGGACTGGAGCTGGGAGAAACAAAAAG
AACAACCCAAAGAATACCAACGCATCCTACAGTGCTTCTTAGATAGAAAAGATTGTTGCTACTC
TATCCATCAAATGGCACAAATGGGTGTAGGAGAAGGGAAATCAATTGGAGAATGGTTTGGACCA
AATACAGTTGCACAGGTGTTAAAAAAACTTGCTTTATTTGACGAATGGAATTCCTTGGCTGTTT
ATGTTTCAATGGATAACACAGTGGTCATTGAAGATATCAAAAAAATGTGCCGTGTCCTTCCCTT
GAGTGCTGACACAGCTGGTGACAGGCCTCCCGATTCTTTAACTGCTTCAAACCAGAGTAAGGGC
ACCTCTGCCTACTGCTCAGCCTGGAAACCCCTGCTGCTCATTGTGCCCCTTCGCCTGGGCATAA
ACCAAATCAATCCTGTCTATGTTGATGCATTCAAAGAGTGTTTTAAGATGCCACAGTCTTTAGG
GGCATTAGGAGGAAAACCAAATAACGCGTATTATTTCATAGGATTCTTAGGTGACGAGCTCATC
TTCTTGGACCCTCATACAACCCAGACCTTTGTTGACACTGAAGAGAATGGAACGGTTAATGACC
AGACTTTCCATTGCCTGCAGTCCCCACAGCGAATGAACATCCTAAACCTGGATCCTTCAGTTGC
ATTGGGATTTTTCTGCAAAGAAGAAAAAGACTTTGATAACTGGTGTAGCCTTGTTCAGAAGGAA
ATTCTAAAGGAGAATTTAAGGATGTTTGAATTAGTTCAGAAACATCCATCACACTGGCCTCCCT
TTGTACCTCCAGCCAAGCCAGAAGTGACAACCACTGGGGCAGAATTCATTGACTCTACTGAGCA
ACTGGAGGAGTTTGATCTGGAGGAAGATTTTGAGATTCTGAGTGTGTAGAATCCTGGGAACTCA
ACTTGAAGGTCTGTCTTCCATCTGGCACCATAAAAACATGAACTTATTGCATAAAACTTTTCTA
GTCAGCAAGTGCCTGATATGCCAATAGCATACAAACTCAATAGCAATCATGACTGAGCCAATCA
CTGTTTCTCAGAAAAACAAAACAAAACAAAACAAATGACAGTAACCCTTCCCCGGAAAGAAATA
GAACAATCATGGAGCCTAGGAGCAGAGAGATGAGGAGGAGTTCATTGCTTCCCAGCTTGTGTTA
TATGGCTACAGCAAGTCTTCAGCTGCTGCAATGAGGAAATGGGCATCTGGAAGACAAACAGCAA
CTCTCAGCTTGCTTCAAGAACCAGCAGATAAGAGATGGTTAAGCTGTTCTTCACCCTTTCAGAT
GTGACCTCTTTTGGACTAAGCAGCAATCTGTTCTCTTGCTCAAATAATAAAGTGACTGAATCAG
GGAGGAAAAGGTTCTTGTTAAATTATTTGATTGTGTAGTTGAAGTAATTATAATTTATATCAAA
ACGTTTGTCAAAGAAACGATGTCAAATATACACTTCTTGATCTCCCTTCTGTTTGCGGGGATCT
TACTATTTGATGGGTCACTGTCCCCATTCTTACTGATACTTTTGTCAGATATCACCCTGTCCTT
AAATCATGATCACTTAAATCAGGGGTCAGCAAACTTTTTCTGTAAAGGGCCAGACGGGAAATAT
TTTGGGCTTTGCAGGCCATGCGGCCTCTGTCACATCTACTCAACTCTGCTGTTGACATGCAAAA
GCAGCAATAGACAATATGCGTGTAAATGAGTGTGGCTGTAATCCAAGAAAACTTTATTTACAAA
AGCAGGTGGAGGGCTGGGTTTGGCCTGCAGGCTGTAGCTTGCCAATCAGTGACTTAAATTGTTG
ATTTTTGTTTGATAAATTAAAAATAAATTGTGTTTGAAGTATACCCTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001308216	(Get FASTA)	NCBI Sequence Viewer
	NP_001308217	(Get FASTA)	NCBI Sequence Viewer
	NP_001308218	(Get FASTA)	NCBI Sequence Viewer
	NP_001308219	(Get FASTA)	NCBI Sequence Viewer
	NP_443168	(Get FASTA)	NCBI Sequence Viewer
	NP_840054	(Get FASTA)	NCBI Sequence Viewer
	NP_840055	(Get FASTA)	NCBI Sequence Viewer
	XP_011529144	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH41862	(Get FASTA)	NCBI Sequence Viewer
	AAH61696	(Get FASTA)	NCBI Sequence Viewer
	BAB83889	(Get FASTA)	NCBI Sequence Viewer
	BAG37044	(Get FASTA)	NCBI Sequence Viewer
	BAG57015	(Get FASTA)	NCBI Sequence Viewer
	CAC69076	(Get FASTA)	NCBI Sequence Viewer
	CAC69077	(Get FASTA)	NCBI Sequence Viewer
	CAD43218	(Get FASTA)	NCBI Sequence Viewer
	EAX02689	(Get FASTA)	NCBI Sequence Viewer
	EAX02690	(Get FASTA)	NCBI Sequence Viewer
	EAX02691	(Get FASTA)	NCBI Sequence Viewer
	EAX02692	(Get FASTA)	NCBI Sequence Viewer
	EAX02693	(Get FASTA)	NCBI Sequence Viewer
	EAX02694	(Get FASTA)	NCBI Sequence Viewer
	EAX02695	(Get FASTA)	NCBI Sequence Viewer
	EAX02696	(Get FASTA)	NCBI Sequence Viewer
	Q8WYN0	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_840054 ⟸ NM_178270
- Peptide Label:	isoform b
- UniProtKB:	Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MESVLSKYEDQITIFTDYLEEYPDTDELVWILGKQHLLKTEKSKLLSDISARLWFTYRRKFSPI GGTGPSSDAGWGCMLRCGQMMLAQALICRHLGRDWSWEKQKEQPKEYQRILQCFLDRKDCCYSI HQMAQMGVGEGKSIGEWFGPNTVAQVLKKLALFDEWNSLAVYVSMDNTVVIEDIKKMCRVLPLS ADTAGDRPPDSLTASNQSDELIFLDPHTTQTFVDTEENGTVNDQTFHCLQSPQRMNILNLDPSV ALGFFCKEEKDFDNWCSLVQKEILKENLRMFELVQKHPSHWPPFVPPAKPEVTTTGAEFIDSTE QLEEFDLEEDFEILSV hide sequence

RefSeq Acc Id:	NP_443168 ⟸ NM_052936
- Peptide Label:	isoform a
- UniProtKB:	Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MESVLSKYEDQITIFTDYLEEYPDTDELVWILGKQHLLKTEKSKLLSDISARLWFTYRRKFSPI GGTGPSSDAGWGCMLRCGQMMLAQALICRHLGRDWSWEKQKEQPKEYQRILQCFLDRKDCCYSI HQMAQMGVGEGKSIGEWFGPNTVAQVLKKLALFDEWNSLAVYVSMDNTVVIEDIKKMCRVLPLS ADTAGDRPPDSLTASNQSKGTSAYCSAWKPLLLIVPLRLGINQINPVYVDAFKECFKMPQSLGA LGGKPNNAYYFIGFLGDELIFLDPHTTQTFVDTEENGTVNDQTFHCLQSPQRMNILNLDPSVAL GFFCKEEKDFDNWCSLVQKEILKENLRMFELVQKHPSHWPPFVPPAKPEVTTTGAEFIDSTEQL EEFDLEEDFEILSV hide sequence

RefSeq Acc Id:	XP_011529144 ⟸ XM_011530842
- Peptide Label:	isoform X1
- UniProtKB:	Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRCGQMMLAQALICRHLGRDWSWEKQKEQPKEYQRILQCFLDRKDCCYSIHQMAQMGVGEGKS IGEWFGPNTVAQVLKKLALFDEWNSLAVYVSMDNTVVIEDIKKMCRVLPLSADTAGDRPPDSLT ASNQSKGTSAYCSAWKPLLLIVPLRLGINQINPVYVDAFKECFKMPQSLGALGGKPNNAYYFIG FLGDELIFLDPHTTQTFVDTEENGTVNDQTFHCLQSPQRMNILNLDPSVALGFFCKEEKDFDNW CSLVQKEILKENLRMFELVQKHPSHWPPFVPPAKPEVTTTGAEFIDSTEQLEEFDLEEDFEILS V hide sequence

RefSeq Acc Id:	NP_001308216 ⟸ NM_001321287
- Peptide Label:	isoform c
- UniProtKB:	Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRCGQMMLAQALICRHLGRDWSWEKQKEQPKEYQRILQCFLDRKDCCYSIHQMAQMGVGEGKS IGEWFGPNTVAQVLKKLALFDEWNSLAVYVSMDNTVVIEDIKKMCRVLPLSADTAGDRPPDSLT ASNQSKGTSAYCSAWKPLLLIVPLRLGINQINPVYVDAFKECFKMPQSLGALGGKPNNAYYFIG FLGDELIFLDPHTTQTFVDTEENGTVNDQTFHCLQSPQRMNILNLDPSVALGFFCKEEKDFDNW CSLVQKEILKENLRMFELVQKHPSHWPPFVPPAKPEVTTTGAEFIDSTEQLEEFDLEEDFEILS V hide sequence

RefSeq Acc Id:	NP_001308217 ⟸ NM_001321288
- Peptide Label:	isoform c
- UniProtKB:	Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRCGQMMLAQALICRHLGRDWSWEKQKEQPKEYQRILQCFLDRKDCCYSIHQMAQMGVGEGKS IGEWFGPNTVAQVLKKLALFDEWNSLAVYVSMDNTVVIEDIKKMCRVLPLSADTAGDRPPDSLT ASNQSKGTSAYCSAWKPLLLIVPLRLGINQINPVYVDAFKECFKMPQSLGALGGKPNNAYYFIG FLGDELIFLDPHTTQTFVDTEENGTVNDQTFHCLQSPQRMNILNLDPSVALGFFCKEEKDFDNW CSLVQKEILKENLRMFELVQKHPSHWPPFVPPAKPEVTTTGAEFIDSTEQLEEFDLEEDFEILS V hide sequence

RefSeq Acc Id:

NP_001308219 ⟸ NM_001321290

- Peptide Label:

isoform e

- Sequence:

show sequence

MDNTVVIEDIKKMCRVLPLSADTAGDRPPDSLTASNQSKGTSAYCSAWKPLLLIVPLRLGINQI
NPVYVDAFKECFKMPQSLGALGGKPNNAYYFIGFLGDELIFLDPHTTQTFVDTEENGTVNDQTF
HCLQSPQRMNILNLDPSVALGFFCKEEKDFDNWCSLVQKEILKENLRMFELVQKHPSHWPPFVP
PAKPEVTTTGAEFIDSTEQLEEFDLEEDFEILSV

hide sequence

RefSeq Acc Id:	NP_840055 ⟸ NM_178271
- Peptide Label:	isoform c
- UniProtKB:	Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLRCGQMMLAQALICRHLGRDWSWEKQKEQPKEYQRILQCFLDRKDCCYSIHQMAQMGVGEGKS IGEWFGPNTVAQVLKKLALFDEWNSLAVYVSMDNTVVIEDIKKMCRVLPLSADTAGDRPPDSLT ASNQSKGTSAYCSAWKPLLLIVPLRLGINQINPVYVDAFKECFKMPQSLGALGGKPNNAYYFIG FLGDELIFLDPHTTQTFVDTEENGTVNDQTFHCLQSPQRMNILNLDPSVALGFFCKEEKDFDNW CSLVQKEILKENLRMFELVQKHPSHWPPFVPPAKPEVTTTGAEFIDSTEQLEEFDLEEDFEILS V hide sequence

RefSeq Acc Id:	NP_001308218 ⟸ NM_001321289
- Peptide Label:	isoform d
- UniProtKB:	Q8WYN0 (UniProtKB/Swiss-Prot), B4DEA4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLRCGQMMLAQALICRHLGRDWSWEKQKEQPKEYQRILQCFLDRKDCCYSIHQMAQMGVGEGKS IGEWFGPNTVAQVLKKLALFDEWNSLAVYVSMDNTVVIEDIKKMCRVLPLSADTAGDRPPDSLT ASNQSDELIFLDPHTTQTFVDTEENGTVNDQTFHCLQSPQRMNILNLDPSVALGFFCKEEKDFD NWCSLVQKEILKENLRMFELVQKHPSHWPPFVPPAKPEVTTTGAEFIDSTEQLEEFDLEEDFEI LSV hide sequence

RefSeq Acc Id:

ENSP00000298131 ⟸ ENST00000345734

RefSeq Acc Id:

ENSP00000361306 ⟸ ENST00000372232

RefSeq Acc Id:

ENSP00000361320 ⟸ ENST00000372246

RefSeq Acc Id:

ENSP00000416218 ⟸ ENST00000457035

RefSeq Acc Id:

ENSP00000378354 ⟸ ENST00000394892

RefSeq Acc Id:

ENSP00000341833 ⟸ ENST00000343524

Promoters

RGD ID:

6808683

Promoter ID:

HG_KWN:67723

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:

ENST00000338548, ENST00000340200, ENST00000372295, ENST00000372296, ENST00000394902, NM_002814, NM_170750, OTTHUMT00000057860, OTTHUMT00000057861, OTTHUMT00000057863, OTTHUMT00000057865, UC004ENS.1, UC010NPH.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	107,220,576 - 107,221,927 (-)	MPROMDB

RGD ID:

13627832

Promoter ID:

EPDNEW_H29191

Type:

initiation region

Name:

ATG4A_3

Description:

autophagy related 4A cysteine peptidase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29194 EPDNEW_H29193

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,088,832 - 108,088,892	EPDNEW

RGD ID:

13627838

Promoter ID:

EPDNEW_H29193

Type:

initiation region

Name:

ATG4A_2

Description:

autophagy related 4A cysteine peptidase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29191 EPDNEW_H29194

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,091,650 - 108,091,710	EPDNEW

RGD ID:

13627836

Promoter ID:

EPDNEW_H29194

Type:

initiation region

Name:

ATG4A_1

Description:

autophagy related 4A cysteine peptidase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29191 EPDNEW_H29193

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	108,091,788 - 108,091,848	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	copy number loss	See cases [RCV000051665]	ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	copy number loss	See cases [RCV000051666]	ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1	copy number loss	See cases [RCV000051668]	ChrX:77544283..110500317 [GRCh38] ChrX:76799762..109743545 [GRCh37] ChrX:76686418..109630201 [NCBI36] ChrX:Xq21.1-23	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	copy number loss	See cases [RCV000051713]	ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]\|See cases [RCV000051716]	ChrX:102070552..108264804 [GRCh38] ChrX:101325524..107508034 [GRCh37] ChrX:101212180..107394690 [NCBI36] ChrX:Xq22.1-22.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|See cases [RCV000052418]	ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1	pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	copy number gain	See cases [RCV000052438]	ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25	pathogenic
GRCh38/hg38 Xq22.3(chrX:107523862-108265579)x3	copy number gain	See cases [RCV000052443]	ChrX:107523862..108265579 [GRCh38] ChrX:106767092..107508809 [GRCh37] ChrX:106653748..107395465 [NCBI36] ChrX:Xq22.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	copy number gain	See cases [RCV000136552]	ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	copy number loss	See cases [RCV000136083]	ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4	copy number gain	See cases [RCV000136029]	ChrX:100597687..111651116 [GRCh38] ChrX:99852684..110894344 [GRCh37] ChrX:99739340..110781000 [NCBI36] ChrX:Xq22.1-23	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	copy number loss	See cases [RCV000137415]	ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	copy number gain	See cases [RCV000138020]	ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	copy number loss	See cases [RCV000137887]	ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1	copy number loss	See cases [RCV000138541]	ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	copy number loss	See cases [RCV000139400]	ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1	copy number loss	See cases [RCV000139351]	ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28	pathogenic\|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3	copy number gain	See cases [RCV000139204]	ChrX:93591590..112530092 [GRCh38] ChrX:92846589..111773320 [GRCh37] ChrX:92733245..111659976 [NCBI36] ChrX:Xq21.32-23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	copy number loss	See cases [RCV000142016]	ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	copy number loss	See cases [RCV000141742]	ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24	pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1	copy number loss	See cases [RCV000142372]	ChrX:81109470..109442793 [GRCh38] ChrX:80364969..108686022 [GRCh37] ChrX:80251625..108572678 [NCBI36] ChrX:Xq21.1-23	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	copy number loss	See cases [RCV000142337]	ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	copy number loss	See cases [RCV000142037]	ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	copy number loss	See cases [RCV000142190]	ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1	copy number loss	Premature ovarian failure [RCV000225336]	ChrX:99931059..120328627 [GRCh37] ChrX:Xq22.1-24	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3	copy number gain	See cases [RCV000446318]	ChrX:95498487..129063677 [GRCh37] ChrX:Xq21.33-26.1	pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xq22.3-23(chrX:107370001-110989043)x1	copy number loss	See cases [RCV000447004]	ChrX:107370001..110989043 [GRCh37] ChrX:Xq22.3-23	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	copy number loss	See cases [RCV000445891]	ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	copy number gain	See cases [RCV000448394]	ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2	copy number gain	See cases [RCV000448592]	ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1	copy number loss	See cases [RCV000448870]	ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1	copy number loss	See cases [RCV000511514]	ChrX:86776682..114054291 [GRCh37] ChrX:Xq21.31-23	pathogenic\|uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	copy number loss	See cases [RCV000511490]	ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	copy number loss	See cases [RCV000510947]	ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	copy number gain	See cases [RCV000512365]	ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28	uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	copy number loss	See cases [RCV000512372]	ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	copy number loss	not provided [RCV000684357]	ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	copy number loss	not provided [RCV000684363]	ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	copy number loss	not provided [RCV000846958]	ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
NG_012059.2:g.1_302925del	deletion	Alport syndrome 1, X-linked recessive [RCV000735843]	ChrX:108141550..108444474 [GRCh38] ChrX:Xq22.3	likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autistic disorder of childhood onset [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
NM_052936.5(ATG4A):c.882G>A (p.Thr294=)	single nucleotide variant	not provided [RCV000948160]	ChrX:108150219 [GRCh38] ChrX:107393449 [GRCh37] ChrX:Xq22.3	benign
NM_052936.5(ATG4A):c.486C>T (p.Asp162=)	single nucleotide variant	not provided [RCV000918230]	ChrX:108137109 [GRCh38] ChrX:107380339 [GRCh37] ChrX:Xq22.3	benign
NM_052936.5(ATG4A):c.201G>T (p.Thr67=)	single nucleotide variant	not provided [RCV000909407]	ChrX:108131267 [GRCh38] ChrX:107374497 [GRCh37] ChrX:Xq22.3	benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	copy number loss	not provided [RCV000845672]	ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_052936.5(ATG4A):c.540A>C (p.Glu180Asp)	single nucleotide variant	not provided [RCV000974342]	ChrX:108137163 [GRCh38] ChrX:107380393 [GRCh37] ChrX:Xq22.3	benign
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1	copy number loss	not provided [RCV001007332]	ChrX:105973323..110619655 [GRCh37] ChrX:Xq22.3-23	likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
NC_000023.11:g.(?_107628619)_(108696388_?)del	deletion	not provided [RCV001032756]	ChrX:106871849..107939618 [GRCh37] ChrX:Xq22.3	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	copy number loss	not provided [RCV001259005]	ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq22.3(chrX:106479615-107575960)x3	copy number gain	not provided [RCV001259490]	ChrX:106479615..107575960 [GRCh37] ChrX:Xq22.3	uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	copy number loss	not provided [RCV001259012]	ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16489	AgrOrtholog
COSMIC	ATG4A	COSMIC
Ensembl Genes	ENSG00000101844	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000298131	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000341833	UniProtKB/TrEMBL
	ENSP00000361306	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000361320	UniProtKB/TrEMBL
	ENSP00000378354	UniProtKB/TrEMBL
	ENSP00000416218	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000343524	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000345734	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000372232	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000372246	UniProtKB/TrEMBL
	ENST00000394892	UniProtKB/TrEMBL
	ENST00000457035	UniProtKB/TrEMBL
GTEx	ENSG00000101844	GTEx
HGNC ID	HGNC:16489	ENTREZGENE
Human Proteome Map	ATG4A	Human Proteome Map
InterPro	ATG4A	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Papain-like_cys_pep_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Peptidase_C54	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:115201	UniProtKB/Swiss-Prot
NCBI Gene	115201	ENTREZGENE
OMIM	300663	OMIM
PANTHER	PTHR22624	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR22624:SF35	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Peptidase_C54	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25184	PharmGKB
Superfamily-SCOP	SSF54001	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A0A0MT61_HUMAN	UniProtKB/TrEMBL
	ATG4A_HUMAN	UniProtKB/Swiss-Prot
	B4DEA4	ENTREZGENE, UniProtKB/TrEMBL
	F8W7J2_HUMAN	UniProtKB/TrEMBL
	G5E979_HUMAN	UniProtKB/TrEMBL
	H7BYM2_HUMAN	UniProtKB/TrEMBL
	Q8WYN0	ENTREZGENE
UniProt Secondary	A6NCH2	UniProtKB/Swiss-Prot
	B2RAZ7	UniProtKB/Swiss-Prot
	D3DUY0	UniProtKB/Swiss-Prot
	O95534	UniProtKB/Swiss-Prot
	Q5JYY9	UniProtKB/Swiss-Prot
	Q5JYZ0	UniProtKB/Swiss-Prot
	Q86VE5	UniProtKB/Swiss-Prot
	Q96KQ0	UniProtKB/Swiss-Prot
	Q96KQ1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-29	ATG4A	autophagy related 4A cysteine peptidase	ATG4A	autophagy related 4A, cysteine peptidase	Symbol and/or name change	5135510	APPROVED
2012-06-12	ATG4A	autophagy related 4A, cysteine peptidase	ATG4A	ATG4 autophagy related 4 homolog A (S. cerevisiae)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)