ATP11C (ATPase phospholipid transporting 11C) - Rat Genome Database

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Gene: ATP11C (ATPase phospholipid transporting 11C) Homo sapiens
Analyze
Symbol: ATP11C
Name: ATPase phospholipid transporting 11C
RGD ID: 1351598
HGNC Page HGNC
Description: Exhibits phosphatidylethanolamine flippase activity and phosphatidylserine flippase activity. Predicted to be involved in phospholipid translocation. Localizes to endoplasmic reticulum and integral component of plasma membrane. Implicated in X-linked congenital hemolytic anemia; INTERACTS WITH 17beta-estradiol; 5-aza-2'-deoxycytidine; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: ATPase, class VI, type 11C; ATPIG; ATPIQ; HACXL; P4-ATPase flippase complex alpha subunit ATP11C; phospholipid-transporting ATPase IG; probable phospholipid-transporting ATPase IG
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX139,726,346 - 139,945,276 (-)EnsemblGRCh38hg38GRCh38
GRCh38X139,726,346 - 139,933,083 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X138,808,507 - 139,015,212 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X138,636,171 - 138,742,113 (-)NCBINCBI36hg18NCBI36
Build 34X138,534,025 - 138,639,967NCBI
CeleraX139,175,990 - 139,281,918 (-)NCBI
Cytogenetic MapXq27.1NCBI
HuRefX128,075,584 - 128,181,035 (-)NCBIHuRef
CHM1_1X138,719,392 - 138,825,335 (-)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

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8034313   PMID:10737800   PMID:11015572   PMID:12477932   PMID:14702039   PMID:15071553   PMID:15533723   PMID:15772651   PMID:15919184   PMID:16344560   PMID:17897319   PMID:21873635  
PMID:21914794   PMID:24904167   PMID:25315773   PMID:25544563   PMID:26186194   PMID:26399598   PMID:26496610   PMID:26567335   PMID:26638075   PMID:26944472   PMID:28514442   PMID:29123098  
PMID:29276178   PMID:29507755   PMID:29987050   PMID:30021884   PMID:31253392   PMID:31371488   PMID:32493773   PMID:33144569  


Genomics

Comparative Map Data
ATP11C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX139,726,346 - 139,945,276 (-)EnsemblGRCh38hg38GRCh38
GRCh38X139,726,346 - 139,933,083 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X138,808,507 - 139,015,212 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X138,636,171 - 138,742,113 (-)NCBINCBI36hg18NCBI36
Build 34X138,534,025 - 138,639,967NCBI
CeleraX139,175,990 - 139,281,918 (-)NCBI
Cytogenetic MapXq27.1NCBI
HuRefX128,075,584 - 128,181,035 (-)NCBIHuRef
CHM1_1X138,719,392 - 138,825,335 (-)NCBICHM1_1
Atp11c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X59,268,643 - 59,450,041 (-)NCBIGRCm39mm39
GRCm39 EnsemblX59,268,650 - 59,636,304 (-)Ensembl
GRCm38X60,223,283 - 60,404,853 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX60,223,290 - 60,592,698 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X57,476,467 - 57,657,156 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X56,570,074 - 56,750,596 (-)NCBImm8
CeleraX46,662,339 - 46,843,830 (-)NCBICelera
Cytogenetic MapXA6NCBI
Atp11c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X138,564,459 - 138,752,116 (-)NCBI
Rnor_6.0 EnsemblX143,346,252 - 143,453,612 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X143,340,712 - 143,525,588 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X143,369,601 - 143,554,166 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X145,746,536 - 145,861,055 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX134,637,343 - 134,750,541 (-)NCBICelera
Cytogenetic MapXq36NCBI
Atp11c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554895,394,357 - 5,567,405 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554895,394,553 - 5,567,295 (+)NCBIChiLan1.0ChiLan1.0
ATP11C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X139,130,224 - 139,335,751 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX139,132,783 - 139,334,869 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X128,880,747 - 129,085,989 (-)NCBIMhudiblu_PPA_v0panPan3
ATP11C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X109,695,018 - 109,888,284 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX109,697,086 - 109,880,624 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX95,522,302 - 95,715,540 (-)NCBI
ROS_Cfam_1.0X111,683,119 - 111,876,518 (-)NCBI
UMICH_Zoey_3.1X108,815,452 - 109,008,656 (-)NCBI
UNSW_CanFamBas_1.0X110,999,978 - 111,193,126 (-)NCBI
UU_Cfam_GSD_1.0X110,679,492 - 110,872,773 (-)NCBI
Atp11c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X107,724,870 - 107,913,827 (-)NCBI
SpeTri2.0NW_0049365137,701,733 - 7,889,753 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP11C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX114,394,438 - 114,582,150 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X114,394,436 - 114,575,658 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X130,614,130 - 130,659,634 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATP11C
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X114,812,948 - 115,013,557 (-)NCBI
ChlSab1.1 EnsemblX114,812,930 - 115,013,538 (-)Ensembl
Atp11c
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248086,778,792 - 6,955,259 (+)NCBI

Position Markers
RH104108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,851,292 - 138,851,430UniSTSGRCh37
Build 36X138,678,958 - 138,679,096RGDNCBI36
CeleraX139,218,763 - 139,218,901RGD
Cytogenetic MapXq27.1UniSTS
HuRefX128,117,982 - 128,118,120UniSTS
GeneMap99-GB4 RH MapX324.88UniSTS
UniSTS:99496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,809,455 - 138,809,821UniSTSGRCh37
Build 36X138,637,121 - 138,637,487RGDNCBI36
CeleraX139,176,940 - 139,177,306RGD
HuRefX128,076,534 - 128,076,900UniSTS
sWXD1509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,808,762 - 138,809,179UniSTSGRCh37
Build 36X138,636,428 - 138,636,845RGDNCBI36
CeleraX139,176,247 - 139,176,664RGD
Cytogenetic MapXq27.1UniSTS
HuRefX128,075,841 - 128,076,258UniSTS
SHGC-85130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,884,935 - 138,885,214UniSTSGRCh37
Build 36X138,712,601 - 138,712,880RGDNCBI36
CeleraX139,252,406 - 139,252,685RGD
Cytogenetic MapXq27.1UniSTS
stdJ41P24T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,877,442 - 138,877,583UniSTSGRCh37
Build 36X138,705,108 - 138,705,249RGDNCBI36
CeleraX139,244,913 - 139,245,054RGD
Cytogenetic MapXq27.1UniSTS
HuRefX128,144,194 - 128,144,335UniSTS
ATP11C_4391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,808,314 - 138,809,181UniSTSGRCh37
Build 36X138,635,980 - 138,636,847RGDNCBI36
CeleraX139,175,799 - 139,176,666RGD
HuRefX128,075,393 - 128,076,260UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9784
Count of miRNA genes:1313
Interacting mature miRNAs:1717
Transcripts:ENST00000327569, ENST00000359686, ENST00000361648, ENST00000370543, ENST00000370557, ENST00000422228, ENST00000433868, ENST00000450801, ENST00000460773, ENST00000471746, ENST00000485626
Prediction methods: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 812 1247 308 182 860 177 2110 352 708 203 924 464 14 856 1250 2
Low 1619 1661 1412 439 1024 284 2237 1821 2976 214 528 1128 158 1 348 1530 2
Below cutoff 2 78 2 2 66 3 9 22 28 2 5 9 1 8 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001010986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA829385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ580093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ580094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB348089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000327569   ⟹   ENSP00000332756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,726,349 - 139,832,288 (-)Ensembl
RefSeq Acc Id: ENST00000361648   ⟹   ENSP00000355165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,726,349 - 139,832,288 (-)Ensembl
RefSeq Acc Id: ENST00000370557   ⟹   ENSP00000359588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,726,346 - 139,933,070 (-)Ensembl
RefSeq Acc Id: ENST00000422228   ⟹   ENSP00000394573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,782,557 - 139,789,430 (-)Ensembl
RefSeq Acc Id: ENST00000433868   ⟹   ENSP00000397923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,726,349 - 139,745,791 (-)Ensembl
RefSeq Acc Id: ENST00000450801   ⟹   ENSP00000391259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,726,353 - 139,750,053 (-)Ensembl
RefSeq Acc Id: ENST00000460773
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,728,786 - 139,797,281 (-)Ensembl
RefSeq Acc Id: ENST00000471746
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,750,091 - 139,782,633 (-)Ensembl
RefSeq Acc Id: ENST00000485626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,802,302 - 139,945,276 (-)Ensembl
RefSeq Acc Id: NM_001010986   ⟹   NP_001010986
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,348 - 139,832,241 (-)NCBI
GRCh37X138,808,505 - 139,015,190 (-)NCBI
Build 36X138,636,171 - 138,742,113 (-)NCBI Archive
CeleraX139,175,990 - 139,281,918 (-)RGD
HuRefX128,075,584 - 128,181,035 (-)RGD
CHM1_1X138,719,392 - 138,825,335 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353810   ⟹   NP_001340739
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,348 - 139,933,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353811   ⟹   NP_001340740
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,348 - 139,933,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353812   ⟹   NP_001340741
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,348 - 139,933,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173694   ⟹   NP_775965
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,348 - 139,832,241 (-)NCBI
GRCh37X138,808,505 - 139,015,190 (-)NCBI
Build 36X138,636,171 - 138,742,113 (-)NCBI Archive
CeleraX139,175,990 - 139,281,918 (-)RGD
HuRefX128,075,584 - 128,181,035 (-)RGD
CHM1_1X138,719,392 - 138,825,335 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029439   ⟹   XP_016884928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,346 - 139,832,236 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029440   ⟹   XP_016884929
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,346 - 139,932,771 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029441   ⟹   XP_016884930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,346 - 139,932,657 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029442   ⟹   XP_016884931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,346 - 139,930,353 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029443   ⟹   XP_016884932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,352 - 139,832,236 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029445   ⟹   XP_016884934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,728,896 - 139,832,238 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029446   ⟹   XP_016884935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,346 - 139,832,239 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029448   ⟹   XP_016884937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,346 - 139,932,985 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029449   ⟹   XP_016884938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,346 - 139,933,083 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755683
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,346 - 139,832,239 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755684
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,346 - 139,933,012 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755685
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,346 - 139,932,985 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958774
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,726,346 - 139,832,241 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_775965   ⟸   NM_173694
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001010986   ⟸   NM_001010986
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: XP_016884938   ⟸   XM_017029449
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016884937   ⟸   XM_017029448
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016884929   ⟸   XM_017029440
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884930   ⟸   XM_017029441
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884931   ⟸   XM_017029442
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016884935   ⟸   XM_017029446
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016884928   ⟸   XM_017029439
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884932   ⟸   XM_017029443
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016884934   ⟸   XM_017029445
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001340739   ⟸   NM_001353810
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001340741   ⟸   NM_001353812
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001340740   ⟸   NM_001353811
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: ENSP00000359588   ⟸   ENST00000370557
RefSeq Acc Id: ENSP00000391259   ⟸   ENST00000450801
RefSeq Acc Id: ENSP00000355165   ⟸   ENST00000361648
RefSeq Acc Id: ENSP00000332756   ⟸   ENST00000327569
RefSeq Acc Id: ENSP00000397923   ⟸   ENST00000433868
RefSeq Acc Id: ENSP00000394573   ⟸   ENST00000422228
Protein Domains
PhoLip_ATPase_C   PhoLip_ATPase_N

Promoters
RGD ID:13628246
Promoter ID:EPDNEW_H29398
Type:initiation region
Name:ATP11C_1
Description:ATPase phospholipid transporting 11C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,832,221 - 139,832,281EPDNEW

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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
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 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 copy number loss See cases [RCV000051733] ChrX:139230333..150628474 [GRCh38]
ChrX:138312495..149782550 [GRCh37]
ChrX:138140161..149547605 [NCBI36]
ChrX:Xq27.1-28
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 Xq27.1(chrX:139333024-140959375)x0 copy number loss See cases [RCV000051734] ChrX:139333024..140959375 [GRCh38]
ChrX:138415183..139986362 [GRCh37]
ChrX:138242849..139869206 [NCBI36]
ChrX:Xq27.1
pathogenic
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 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: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: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: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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2 copy number gain See cases [RCV000052469] ChrX:136522136..140417943 [GRCh38]
ChrX:135604295..139500108 [GRCh37]
ChrX:135431961..139327774 [NCBI36]
ChrX:Xq26.3-27.1
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 Xq27.1(chrX:139605696-140302516)x3 copy number gain See cases [RCV000054281] ChrX:139605696..140302516 [GRCh38]
ChrX:138687855..139384681 [GRCh37]
ChrX:138515521..139212347 [NCBI36]
ChrX:Xq27.1
uncertain significance
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 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
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 Xq27.1(chrX:139698609-140201321)x3 copy number gain See cases [RCV000133714] ChrX:139698609..140201321 [GRCh38]
ChrX:138780768..139283477 [GRCh37]
ChrX:138608434..139111143 [NCBI36]
ChrX:Xq27.1
uncertain significance
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 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 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: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 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 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
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 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 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 Xq21.1-28(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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
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 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
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 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
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 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 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 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 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 Xq27.1(chrX:139830461-140201336)x3 copy number gain See cases [RCV000139818] ChrX:139830461..140201336 [GRCh38]
ChrX:138912620..139283492 [GRCh37]
ChrX:138740286..139111158 [NCBI36]
ChrX:Xq27.1
likely benign
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
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 Xq27.1(chrX:139774971-140365403)x3 copy number gain See cases [RCV000141817] ChrX:139774971..140365403 [GRCh38]
ChrX:138857130..139447568 [GRCh37]
ChrX:138684796..139275234 [NCBI36]
ChrX:Xq27.1
uncertain significance
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 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
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 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 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
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 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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
GRCh38/hg38 Xq27.1-27.2(chrX:139928002-141840850)x0 copy number loss See cases [RCV000051744] ChrX:139928002..141840850 [GRCh38]
ChrX:139010161..140928636 [GRCh37]
ChrX:138837827..140756302 [NCBI36]
ChrX:Xq27.1-27.2
pathogenic
NC_000023.11:g.139935750G>A single nucleotide variant Lung cancer [RCV000102381] ChrX:139935750 [GRCh38]
ChrX:139017909 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138125974-147236414)x2 copy number gain See cases [RCV000167566] ChrX:138125974..147236414 [GRCh37]
ChrX:Xq27.1-28
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 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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [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 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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: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:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [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 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 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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [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 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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq27.1(chrX:138857220-139383466)x2 copy number gain See cases [RCV000446025] ChrX:138857220..139383466 [GRCh37]
ChrX:Xq27.1
likely benign
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 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [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 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
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:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001353812.2(ATP11C):c.235C>T (p.Gln79Ter) single nucleotide variant not provided [RCV000479611] ChrX:139819340 [GRCh38]
ChrX:138901499 [GRCh37]
ChrX:Xq27.1
uncertain significance
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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq27.1-27.2(chrX:138768091-140805967)x3 copy number gain See cases [RCV000511988] ChrX:138768091..140805967 [GRCh37]
ChrX:Xq27.1-27.2
likely benign
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:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
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 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 Xq21.33-28(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
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) single nucleotide variant X-linked congenital hemolytic anemia [RCV000678207] ChrX:139789451 [GRCh38]
ChrX:138871610 [GRCh37]
ChrX:Xq27.1
pathogenic|likely pathogenic
GRCh37/hg19 Xq27.1(chrX:138126026-138891563)x2 copy number gain not provided [RCV000684395] ChrX:138126026..138891563 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1(chrX:138575424-139059289)x2 copy number gain not provided [RCV000684398] ChrX:138575424..139059289 [GRCh37]
ChrX:Xq27.1
uncertain significance
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 Xq26.3-27.1(chrX:136399075-139504489)x1 copy number loss not provided [RCV000684394] ChrX:136399075..139504489 [GRCh37]
ChrX:Xq26.3-27.1
uncertain significance
GRCh37/hg19 Xq27.1(chrX:138325952-138931001)x3 copy number gain not provided [RCV000684396] ChrX:138325952..138931001 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
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 Xq27.1(chrX:138769551-139108503)x3 copy number gain not provided [RCV000684399] ChrX:138769551..139108503 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1(chrX:138818264-139310316)x2 copy number gain not provided [RCV000684400] ChrX:138818264..139310316 [GRCh37]
ChrX:Xq27.1
likely benign
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
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
GRCh37/hg19 Xq27.1(chrX:138694139-139097345)x2 copy number gain not provided [RCV000753809] ChrX:138694139..139097345 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1(chrX:138845706-139295472)x2 copy number gain not provided [RCV000753811] ChrX:138845706..139295472 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xq27.1(chrX:138845706-139314460)x3 copy number gain not provided [RCV000753812] ChrX:138845706..139314460 [GRCh37]
ChrX:Xq27.1
benign
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:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
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)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
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 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001010986.3(ATP11C):c.1440C>T (p.Asn480=) single nucleotide variant not provided [RCV000923911] ChrX:139788281 [GRCh38]
ChrX:138870440 [GRCh37]
ChrX:Xq27.1
benign
NM_001010986.3(ATP11C):c.2401-7T>A single nucleotide variant not provided [RCV000900169] ChrX:139763425 [GRCh38]
ChrX:138845584 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
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_001010986.3(ATP11C):c.2914G>A (p.Val972Met) single nucleotide variant not provided [RCV000965531] ChrX:139745781 [GRCh38]
ChrX:138827940 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq27.1(chrX:138857199-139447566)x2 copy number gain not provided [RCV000849878] ChrX:138857199..139447566 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1(chrX:138655347-139306763)x2 copy number gain not provided [RCV000849148] ChrX:138655347..139306763 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138120235-147240344)x2 copy number gain not provided [RCV000849149] ChrX:138120235..147240344 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NC_000023.10:g.(?_138612860)_(139587225_?)del deletion Hereditary factor IX deficiency disease [RCV000823961] ChrX:138612860..139587225 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_001010986.3(ATP11C):c.414A>G (p.Arg138=) single nucleotide variant not provided [RCV000891913] ChrX:139814899 [GRCh38]
ChrX:138897058 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001010986.3(ATP11C):c.567A>G (p.Thr189=) single nucleotide variant not provided [RCV000980419] ChrX:139802337 [GRCh38]
ChrX:138884496 [GRCh37]
ChrX:Xq27.1
likely benign
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 Xq27.1(chrX:138739715-139210619)x2 copy number gain not provided [RCV001007350] ChrX:138739715..139210619 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
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
GRCh37/hg19 Xq27.1(chrX:138808850-139342599)x2 copy number gain not provided [RCV001007351] ChrX:138808850..139342599 [GRCh37]
ChrX:Xq27.1
likely benign
GRCh37/hg19 Xq27.1(chrX:138808850-139135113)x2 copy number gain not provided [RCV001260050] ChrX:138808850..139135113 [GRCh37]
ChrX:Xq27.1
uncertain significance
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 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq27.1(chrX:138859384-139310196)x3 copy number gain not provided [RCV001260049] ChrX:138859384..139310196 [GRCh37]
ChrX:Xq27.1
likely benign
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:13554 AgrOrtholog
COSMIC ATP11C COSMIC
Ensembl Genes ENSG00000101974 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000332756 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000355165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359588 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000391259 UniProtKB/TrEMBL
  ENSP00000394573 UniProtKB/TrEMBL
  ENSP00000397923 UniProtKB/TrEMBL
Ensembl Transcript ENST00000327569 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361648 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370557 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000422228 UniProtKB/TrEMBL
  ENST00000433868 UniProtKB/TrEMBL
  ENST00000450801 UniProtKB/TrEMBL
Gene3D-CATH 3.40.1110.10 UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101974 GTEx
HGNC ID HGNC:13554 ENTREZGENE
Human Proteome Map ATP11C Human Proteome Map
InterPro ATP11C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_cyto_dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_P_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_TM_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_transduc_dom_A_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-type_ATPase_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-type_ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase_c UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase_HD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:286410 UniProtKB/Swiss-Prot
NCBI Gene 286410 ENTREZGENE
OMIM 300516 OMIM
  301015 OMIM
PANTHER PTHR24092 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24092:SF38 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PhoLip_ATPase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PhoLip_ATPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25103 PharmGKB
PROSITE ATPASE_E1_E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81653 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs ATPase-Plipid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A067XG54_HUMAN UniProtKB/TrEMBL
  A0A067XG57_HUMAN UniProtKB/TrEMBL
  AT11C_HUMAN UniProtKB/Swiss-Prot
  H7C0E8_HUMAN UniProtKB/TrEMBL
  H7C113_HUMAN UniProtKB/TrEMBL
  Q8NB49 ENTREZGENE
UniProt Secondary Q5JT69 UniProtKB/Swiss-Prot
  Q5JT70 UniProtKB/Swiss-Prot
  Q5JT71 UniProtKB/Swiss-Prot
  Q5JT72 UniProtKB/Swiss-Prot
  Q5JT73 UniProtKB/Swiss-Prot
  Q6ZND5 UniProtKB/Swiss-Prot
  Q6ZU50 UniProtKB/Swiss-Prot
  Q6ZUP7 UniProtKB/Swiss-Prot
  Q70IJ9 UniProtKB/Swiss-Prot
  Q70IK0 UniProtKB/Swiss-Prot
  Q8WX24 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP11C  ATPase phospholipid transporting 11C    ATPase, class VI, type 11C  Symbol and/or name change 5135510 APPROVED