ATG4A (autophagy related 4A cysteine peptidase) - Rat Genome Database

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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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX108,091,668 - 108,154,671 (+)EnsemblGRCh38hg38GRCh38
GRCh38X108,091,778 - 108,154,671 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X107,335,008 - 107,397,901 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X107,221,590 - 107,284,552 (+)NCBINCBI36hg18NCBI36
CeleraX107,806,406 - 107,869,363 (+)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX96,957,585 - 97,020,331 (+)NCBIHuRef
CHM1_1X107,245,773 - 107,308,734 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

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

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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX108,091,668 - 108,154,671 (+)EnsemblGRCh38hg38GRCh38
GRCh38X108,091,778 - 108,154,671 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X107,335,008 - 107,397,901 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X107,221,590 - 107,284,552 (+)NCBINCBI36hg18NCBI36
CeleraX107,806,406 - 107,869,363 (+)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX96,957,585 - 97,020,331 (+)NCBIHuRef
CHM1_1X107,245,773 - 107,308,734 (+)NCBICHM1_1
Atg4a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X139,854,594 - 139,947,190 (+)NCBIGRCm39mm39
GRCm39 EnsemblX139,857,656 - 139,947,266 (+)Ensembl
GRCm38X140,953,845 - 141,164,194 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX140,956,907 - 141,164,270 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X137,593,241 - 137,598,813 (+)NCBIGRCm37mm9NCBIm37
MGSCv37X137,491,456 - 137,529,979 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X136,303,271 - 136,342,019 (+)NCBImm8
CeleraX124,212,154 - 124,250,668 (+)NCBICelera
CeleraX125,167,353 - 125,172,805 (+)NCBICelera
Cytogenetic MapXF1NCBI
Atg4a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X104,665,345 - 104,765,271 (+)NCBI
Rnor_6.0X112,328,907 - 112,403,157 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0352,231,912 - 52,273,743 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
CeleraX104,178,429 - 104,184,592 (+)NCBICelera
Cytogenetic MapXq33NCBI
Atg4a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554907,762,623 - 7,788,705 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554907,765,145 - 7,825,126 (-)NCBIChiLan1.0ChiLan1.0
ATG4A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X107,559,639 - 107,623,389 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX107,559,639 - 107,623,389 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X97,189,556 - 97,253,371 (+)NCBIMhudiblu_PPA_v0panPan3
ATG4A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X81,629,346 - 81,688,086 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX81,629,465 - 81,688,099 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX67,753,046 - 67,808,661 (+)NCBI
ROS_Cfam_1.0X83,281,769 - 83,337,418 (+)NCBI
UMICH_Zoey_3.1X80,740,818 - 80,796,428 (+)NCBI
UNSW_CanFamBas_1.0X82,453,368 - 82,509,012 (+)NCBI
UU_Cfam_GSD_1.0X82,244,510 - 82,299,838 (+)NCBI
Atg4a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X80,966,279 - 81,016,771 (+)NCBI
SpeTri2.0NW_0049364996,641,192 - 6,691,685 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATG4A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX88,545,924 - 88,633,321 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X88,545,924 - 88,633,328 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X103,050,536 - 103,071,241 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATG4A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X95,936,385 - 96,011,541 (+)NCBI
ChlSab1.1 EnsemblX95,983,662 - 96,010,578 (+)Ensembl
Atg4a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248038,336,123 - 8,407,354 (-)NCBI

Position Markers
AL022448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,362,765 - 107,362,885UniSTSGRCh37
Build 36X107,249,421 - 107,249,541RGDNCBI36
CeleraX107,834,238 - 107,834,358RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX96,985,180 - 96,985,300UniSTS
RH36508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,391,494 - 107,391,693UniSTSGRCh37
Build 36X107,278,150 - 107,278,349RGDNCBI36
CeleraX107,862,961 - 107,863,160RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX97,013,924 - 97,014,123UniSTS
GeneMap99-GB4 RH MapX293.07UniSTS
NCBI RH MapX561.2UniSTS
RH26790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,397,749 - 107,397,847UniSTSGRCh37
Build 36X107,284,405 - 107,284,503RGDNCBI36
CeleraX107,869,216 - 107,869,314RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX97,020,179 - 97,020,277UniSTS
DXS7882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,343,436 - 107,343,549UniSTSGRCh37
Build 36X107,230,092 - 107,230,205RGDNCBI36
CeleraX107,814,908 - 107,815,021RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX96,966,213 - 96,966,326UniSTS
SHGC-79051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,380,010 - 107,380,299UniSTSGRCh37
Build 36X107,266,666 - 107,266,955RGDNCBI36
CeleraX107,851,483 - 107,851,772RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX97,002,539 - 97,002,828UniSTS
TNG Radiation Hybrid MapX24064.0UniSTS
GDB:642223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,391,715 - 107,391,864UniSTSGRCh37
Build 36X107,278,371 - 107,278,520RGDNCBI36
CeleraX107,863,182 - 107,863,331RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX97,014,145 - 97,014,294UniSTS
SHGC-144818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,375,717 - 107,376,030UniSTSGRCh37
Build 36X107,262,373 - 107,262,686RGDNCBI36
CeleraX107,847,190 - 107,847,503RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX96,998,247 - 96,998,560UniSTS
TNG Radiation Hybrid MapX24064.0UniSTS
WI-18722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,397,751 - 107,397,853UniSTSGRCh37
Build 36X107,284,407 - 107,284,509RGDNCBI36
CeleraX107,869,218 - 107,869,320RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX97,020,181 - 97,020,283UniSTS
GeneMap99-GB4 RH MapX287.52UniSTS
Whitehead-RH MapX269.0UniSTS
NCBI RH MapX561.2UniSTS
DXS8284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,397,721 - 107,397,853UniSTSGRCh37
Build 36X107,284,377 - 107,284,509RGDNCBI36
CeleraX107,869,188 - 107,869,320RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX97,020,151 - 97,020,283UniSTS
TNG Radiation Hybrid MapX24086.0UniSTS
Stanford-G3 RH MapX3609.0UniSTS
NCBI RH MapX558.2UniSTS
GeneMap99-G3 RH MapX3744.0UniSTS
DXS7743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,337,884 - 107,337,944UniSTSGRCh37
Build 36X107,224,540 - 107,224,600RGDNCBI36
CeleraX107,809,356 - 107,809,416RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX96,960,571 - 96,960,631UniSTS
G20822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,397,686 - 107,397,901UniSTSGRCh37
Build 36X107,284,342 - 107,284,557RGDNCBI36
CeleraX107,869,153 - 107,869,368RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX97,020,116 - 97,020,331UniSTS
A006H40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,397,686 - 107,397,901UniSTSGRCh37
Build 36X107,284,342 - 107,284,557RGDNCBI36
CeleraX107,869,153 - 107,869,368RGD
Cytogenetic MapXq22.1-q22.3UniSTS
HuRefX97,020,116 - 97,020,331UniSTS
GeneMap99-GB4 RH MapX283.31UniSTS
NCBI RH MapX561.2UniSTS

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 1
Medium 1161 957 1365 304 1042 239 2095 1157 1097 273 529 1529 73 626 1489 3
Low 1276 2033 360 320 908 225 2261 1038 2628 146 923 78 102 1 578 1299 2 2
Below cutoff 1 1 1 8 6 2

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 AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,091,810 - 108,154,671 (+)Ensembl
RefSeq Acc Id: ENST00000345734   ⟹   ENSP00000298131
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,091,668 - 108,154,671 (+)Ensembl
RefSeq Acc Id: ENST00000372232   ⟹   ENSP00000361306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,091,778 - 108,154,671 (+)Ensembl
RefSeq Acc Id: ENST00000372246   ⟹   ENSP00000361320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,091,784 - 108,154,671 (+)Ensembl
RefSeq Acc Id: ENST00000394892   ⟹   ENSP00000378354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,126,077 - 108,151,858 (+)Ensembl
RefSeq Acc Id: ENST00000457035   ⟹   ENSP00000416218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,091,769 - 108,150,175 (+)Ensembl
RefSeq Acc Id: ENST00000474825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,150,032 - 108,153,010 (+)Ensembl
RefSeq Acc Id: ENST00000489247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX108,150,068 - 108,153,868 (+)Ensembl
RefSeq Acc Id: NM_001321287   ⟹   NP_001308216
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,091,778 - 108,154,671 (+)NCBI
CHM1_1X107,245,773 - 107,308,734 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321288   ⟹   NP_001308217
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,091,778 - 108,154,671 (+)NCBI
CHM1_1X107,245,773 - 107,308,734 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321289   ⟹   NP_001308218
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,091,778 - 108,154,671 (+)NCBI
CHM1_1X107,245,773 - 107,308,734 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321290   ⟹   NP_001308219
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,091,778 - 108,154,671 (+)NCBI
CHM1_1X107,245,773 - 107,308,734 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052936   ⟹   NP_443168
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,091,778 - 108,154,671 (+)NCBI
GRCh37X107,334,899 - 107,397,901 (+)ENTREZGENE
Build 36X107,221,590 - 107,284,552 (+)NCBI Archive
CeleraX107,806,406 - 107,869,363 (+)RGD
HuRefX96,957,585 - 97,020,331 (+)ENTREZGENE
CHM1_1X107,245,773 - 107,308,734 (+)NCBI
Sequence:
RefSeq Acc Id: NM_178270   ⟹   NP_840054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,091,778 - 108,154,671 (+)NCBI
GRCh37X107,334,899 - 107,397,901 (+)ENTREZGENE
Build 36X107,221,590 - 107,284,552 (+)NCBI Archive
CeleraX107,806,406 - 107,869,363 (+)RGD
HuRefX96,957,585 - 97,020,331 (+)ENTREZGENE
CHM1_1X107,245,773 - 107,308,734 (+)NCBI
Sequence:
RefSeq Acc Id: NM_178271   ⟹   NP_840055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,091,778 - 108,154,671 (+)NCBI
CHM1_1X107,245,773 - 107,308,734 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135608
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,091,778 - 108,154,671 (+)NCBI
CHM1_1X107,245,773 - 107,308,734 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530842   ⟹   XP_011529144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X108,091,784 - 108,154,671 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_840054   ⟸   NM_178270
- Peptide Label: isoform b
- UniProtKB: Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_443168   ⟸   NM_052936
- Peptide Label: isoform a
- UniProtKB: Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529144   ⟸   XM_011530842
- Peptide Label: isoform X1
- UniProtKB: Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308216   ⟸   NM_001321287
- Peptide Label: isoform c
- UniProtKB: Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308217   ⟸   NM_001321288
- Peptide Label: isoform c
- UniProtKB: Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308219   ⟸   NM_001321290
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_840055   ⟸   NM_178271
- Peptide Label: isoform c
- UniProtKB: Q8WYN0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308218   ⟸   NM_001321289
- Peptide Label: isoform d
- UniProtKB: Q8WYN0 (UniProtKB/Swiss-Prot),   B4DEA4 (UniProtKB/TrEMBL)
- 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 AssemblyChrPosition (strand)Source
Build 36X107,220,576 - 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 AssemblyChrPosition (strand)Source
GRCh38X108,088,832 - 108,088,892EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh38X108,091,650 - 108,091,710EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh38X108,091,788 - 108,091,848EPDNEW

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

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