TRO (trophinin) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TRO (trophinin) Homo sapiens
Analyze
Symbol: TRO
Name: trophinin
RGD ID: 1605121
HGNC Page HGNC
Description: Predicted to be involved in negative regulation of cell growth. Predicted to localize to cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: KIAA1114; MAGE superfamily protein; MAGE-d3; MAGE-D3 antigen; MAGED3; magphinin; melanoma antigen, family D, 3
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 EnsemblX54,920,462 - 54,931,431 (+)EnsemblGRCh38hg38GRCh38
GRCh38X54,920,796 - 54,931,436 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,947,257 - 54,957,864 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X54,963,974 - 54,974,589 (+)NCBINCBI36hg18NCBI36
CeleraX58,782,397 - 58,793,012 (+)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX51,998,723 - 52,009,749 (+)NCBIHuRef
CHM1_1X54,937,045 - 54,947,913 (+)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7758945   PMID:8125298   PMID:8889548   PMID:9533028   PMID:9560222   PMID:10026108   PMID:10470851   PMID:10797941   PMID:11454705   PMID:11590179   PMID:12297480   PMID:12477932  
PMID:12878157   PMID:14633596   PMID:14702039   PMID:15162511   PMID:15205339   PMID:15772651   PMID:15867431   PMID:16196087   PMID:16288751   PMID:16344560   PMID:16713569   PMID:17254769  
PMID:17360433   PMID:17487845   PMID:17495530   PMID:17559068   PMID:17597582   PMID:18078818   PMID:18769125   PMID:18846386   PMID:20237496   PMID:21139048   PMID:21191175   PMID:21890473  
PMID:21906983   PMID:22201876   PMID:23000965   PMID:24713374   PMID:25416956   PMID:25609649   PMID:26186194   PMID:27035766   PMID:28514442   PMID:30021884   PMID:30209976   PMID:30561431  
PMID:30631154  


Genomics

Comparative Map Data
TRO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX54,920,462 - 54,931,431 (+)EnsemblGRCh38hg38GRCh38
GRCh38X54,920,796 - 54,931,436 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,947,257 - 54,957,864 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X54,963,974 - 54,974,589 (+)NCBINCBI36hg18NCBI36
CeleraX58,782,397 - 58,793,012 (+)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX51,998,723 - 52,009,749 (+)NCBIHuRef
CHM1_1X54,937,045 - 54,947,913 (+)NCBICHM1_1
Tro
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X149,427,706 - 149,440,579 (-)NCBIGRCm39mm39
GRCm39 EnsemblX149,428,300 - 149,440,579 (-)Ensembl
GRCm38X150,644,710 - 150,657,583 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX150,645,304 - 150,657,583 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X147,079,846 - 147,091,979 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X145,986,019 - 145,998,115 (-)NCBImm8
CeleraX133,755,638 - 133,767,712 (+)NCBICelera
Cytogenetic MapXF3NCBI
Tro
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X19,563,395 - 19,574,507 (-)NCBI
Rnor_6.0X23,079,809 - 23,090,912 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X23,502,729 - 23,511,435 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
CeleraX19,834,549 - 19,843,753 (-)NCBICelera
Cytogenetic MapXq13NCBI
Tro
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554752,266,522 - 2,278,016 (+)NCBIChiLan1.0ChiLan1.0
TRO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X55,362,063 - 55,373,560 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX55,363,522 - 55,373,467 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X47,131,249 - 47,142,012 (+)NCBIMhudiblu_PPA_v0panPan3
TRO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X46,566,844 - 46,617,430 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX37,942,110 - 37,951,258 (+)NCBI
ROS_Cfam_1.0X46,895,135 - 46,904,283 (+)NCBI
UMICH_Zoey_3.1X46,404,891 - 46,414,038 (+)NCBI
UNSW_CanFamBas_1.0X46,871,465 - 46,880,614 (+)NCBI
UU_Cfam_GSD_1.0X46,813,740 - 46,822,888 (+)NCBI
Tro
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X39,400,999 - 39,412,531 (+)NCBI
SpeTri2.0NW_0049367511,740,804 - 1,752,256 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X47,759,334 - 47,772,014 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X53,700,769 - 53,708,135 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103232030
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X51,001,421 - 51,015,299 (+)NCBI
ChlSab1.1 EnsemblX51,005,208 - 51,013,942 (+)Ensembl
Tro
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624910291,820 - 303,686 (+)NCBI

Position Markers
RH48499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,953,113 - 54,953,235UniSTSGRCh37
Build 36X54,969,838 - 54,969,960RGDNCBI36
CeleraX58,788,261 - 58,788,383RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX52,004,998 - 52,005,120UniSTS
SHGC-31610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,957,651 - 54,957,860UniSTSGRCh37
Build 36X54,974,376 - 54,974,585RGDNCBI36
CeleraX58,792,799 - 58,793,008RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX52,009,536 - 52,009,745UniSTS
GeneMap99-GB4 RH MapX176.66UniSTS
Whitehead-RH MapX98.0UniSTS
GeneMap99-G3 RH MapX1566.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4104
Count of miRNA genes:1081
Interacting mature miRNAs:1315
Transcripts:ENST00000173898, ENST00000319167, ENST00000375022, ENST00000375041, ENST00000399736, ENST00000411534, ENST00000416704, ENST00000420798, ENST00000427099, ENST00000430420, ENST00000431115, ENST00000440072, ENST00000440759, ENST00000442098, ENST00000445561, ENST00000449980, ENST00000452830, ENST00000453081, ENST00000469211, ENST00000474933, ENST00000475183, ENST00000484031, ENST00000492142, ENST00000492706
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


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 571 983 1079 136 108 137 1684 502 2919 82 881 843 5 1 556 1119 2
Low 1741 1315 621 467 1046 305 2656 1668 813 290 514 655 165 648 1669 2 1
Below cutoff 33 684 20 15 722 16 8 24 1 31 35 58 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB029037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF349719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF349720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF349721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF349722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU279883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX879576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM693634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA128814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB177388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U04811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000173898   ⟹   ENSP00000173898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,824 - 54,931,431 (+)Ensembl
RefSeq Acc Id: ENST00000319167   ⟹   ENSP00000318278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,811 - 54,931,431 (+)Ensembl
RefSeq Acc Id: ENST00000375022   ⟹   ENSP00000364162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,816 - 54,931,431 (+)Ensembl
RefSeq Acc Id: ENST00000375041   ⟹   ENSP00000364181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,851 - 54,931,431 (+)Ensembl
RefSeq Acc Id: ENST00000399736   ⟹   ENSP00000382641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,816 - 54,931,431 (+)Ensembl
RefSeq Acc Id: ENST00000411534   ⟹   ENSP00000388947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,462 - 54,923,356 (+)Ensembl
RefSeq Acc Id: ENST00000416704   ⟹   ENSP00000404767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,921,388 - 54,923,038 (+)Ensembl
RefSeq Acc Id: ENST00000420798   ⟹   ENSP00000405126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,563 - 54,931,429 (+)Ensembl
RefSeq Acc Id: ENST00000427099   ⟹   ENSP00000405311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,921,977 - 54,923,028 (+)Ensembl
RefSeq Acc Id: ENST00000430420   ⟹   ENSP00000411717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,796 - 54,923,240 (+)Ensembl
RefSeq Acc Id: ENST00000431115   ⟹   ENSP00000407996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,825 - 54,925,604 (+)Ensembl
RefSeq Acc Id: ENST00000440072   ⟹   ENSP00000405043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,824 - 54,922,674 (+)Ensembl
RefSeq Acc Id: ENST00000440759   ⟹   ENSP00000406574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,851 - 54,923,060 (+)Ensembl
RefSeq Acc Id: ENST00000442098   ⟹   ENSP00000404645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,796 - 54,923,036 (+)Ensembl
RefSeq Acc Id: ENST00000445561   ⟹   ENSP00000404794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,816 - 54,931,431 (+)Ensembl
RefSeq Acc Id: ENST00000449980   ⟹   ENSP00000392841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,921,084 - 54,923,033 (+)Ensembl
RefSeq Acc Id: ENST00000452830   ⟹   ENSP00000387676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,563 - 54,922,877 (+)Ensembl
RefSeq Acc Id: ENST00000453081   ⟹   ENSP00000412588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,811 - 54,922,856 (+)Ensembl
RefSeq Acc Id: ENST00000469211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,927,285 - 54,928,947 (+)Ensembl
RefSeq Acc Id: ENST00000474933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,825 - 54,922,738 (+)Ensembl
RefSeq Acc Id: ENST00000475183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,926,822 - 54,930,865 (+)Ensembl
RefSeq Acc Id: ENST00000484031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,824 - 54,925,659 (+)Ensembl
RefSeq Acc Id: ENST00000492142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,924,378 - 54,926,480 (+)Ensembl
RefSeq Acc Id: ENST00000492706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,924,488 - 54,931,429 (+)Ensembl
RefSeq Acc Id: ENST00000622017   ⟹   ENSP00000483142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,920,816 - 54,931,429 (+)Ensembl
RefSeq Acc Id: NM_001039705   ⟹   NP_001034794
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,431 (+)NCBI
GRCh37X54,946,996 - 54,957,864 (+)NCBI
Build 36X54,963,974 - 54,974,589 (+)NCBI Archive
HuRefX51,998,723 - 52,009,749 (+)NCBI
CHM1_1X54,937,045 - 54,947,913 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001271183   ⟹   NP_001258112
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,431 (+)NCBI
GRCh37X54,946,996 - 54,957,864 (+)NCBI
HuRefX51,998,723 - 52,009,749 (+)NCBI
CHM1_1X54,937,045 - 54,947,913 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001271184   ⟹   NP_001258113
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,431 (+)NCBI
GRCh37X54,946,996 - 54,957,864 (+)NCBI
HuRefX51,998,723 - 52,009,749 (+)NCBI
CHM1_1X54,937,306 - 54,947,913 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016157   ⟹   NP_057241
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,431 (+)NCBI
GRCh37X54,946,996 - 54,957,864 (+)NCBI
Build 36X54,963,974 - 54,974,589 (+)NCBI Archive
HuRefX51,998,723 - 52,009,749 (+)NCBI
CHM1_1X54,937,045 - 54,947,913 (+)NCBI
Sequence:
RefSeq Acc Id: NM_177556   ⟹   NP_808224
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,431 (+)NCBI
GRCh37X54,946,996 - 54,957,864 (+)NCBI
Build 36X54,963,974 - 54,974,589 (+)NCBI Archive
HuRefX51,998,723 - 52,009,749 (+)NCBI
CHM1_1X54,937,045 - 54,947,913 (+)NCBI
Sequence:
RefSeq Acc Id: NM_177557   ⟹   NP_808225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,431 (+)NCBI
GRCh37X54,946,996 - 54,957,864 (+)NCBI
HuRefX51,998,723 - 52,009,749 (+)NCBI
CHM1_1X54,937,045 - 54,947,913 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073148
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,431 (+)NCBI
HuRefX51,998,723 - 52,009,749 (+)NCBI
CHM1_1X54,937,045 - 54,947,913 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073149
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,431 (+)NCBI
GRCh37X54,946,996 - 54,957,864 (+)NCBI
HuRefX51,998,723 - 52,009,749 (+)NCBI
CHM1_1X54,937,045 - 54,947,913 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724600   ⟹   XP_006724663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,796 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530808   ⟹   XP_011529110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530809   ⟹   XP_011529111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,796 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530811   ⟹   XP_011529113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,990 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530812   ⟹   XP_011529114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530813   ⟹   XP_011529115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,851 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530814   ⟹   XP_011529116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,811 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029767   ⟹   XP_016885256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,990 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029768   ⟹   XP_016885257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029769   ⟹   XP_016885258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,796 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029770   ⟹   XP_016885259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029771   ⟹   XP_016885260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,999 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029772   ⟹   XP_016885261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029773   ⟹   XP_016885262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452433   ⟹   XP_024308201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,796 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755720
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,796 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755721
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,824 - 54,931,436 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755722
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,920,999 - 54,931,436 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001034794 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258112 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258113 (Get FASTA)   NCBI Sequence Viewer  
  NP_057241 (Get FASTA)   NCBI Sequence Viewer  
  NP_808224 (Get FASTA)   NCBI Sequence Viewer  
  NP_808225 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724663 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529110 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529111 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529113 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529114 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529115 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529116 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885256 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885257 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885258 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885259 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885260 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885261 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885262 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308201 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA79334 (Get FASTA)   NCBI Sequence Viewer  
  AAK30170 (Get FASTA)   NCBI Sequence Viewer  
  AAK30171 (Get FASTA)   NCBI Sequence Viewer  
  AAK30172 (Get FASTA)   NCBI Sequence Viewer  
  AAK30173 (Get FASTA)   NCBI Sequence Viewer  
  BAA83066 (Get FASTA)   NCBI Sequence Viewer  
  BAA91609 (Get FASTA)   NCBI Sequence Viewer  
  BAB55149 (Get FASTA)   NCBI Sequence Viewer  
  BAG51387 (Get FASTA)   NCBI Sequence Viewer  
  BAG59020 (Get FASTA)   NCBI Sequence Viewer  
  BAG61509 (Get FASTA)   NCBI Sequence Viewer  
  CAE90572 (Get FASTA)   NCBI Sequence Viewer  
  EAW93200 (Get FASTA)   NCBI Sequence Viewer  
  EAW93201 (Get FASTA)   NCBI Sequence Viewer  
  EAW93202 (Get FASTA)   NCBI Sequence Viewer  
  EAW93203 (Get FASTA)   NCBI Sequence Viewer  
  EAW93204 (Get FASTA)   NCBI Sequence Viewer  
  EAW93205 (Get FASTA)   NCBI Sequence Viewer  
  EAW93206 (Get FASTA)   NCBI Sequence Viewer  
  Q12816 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001034794   ⟸   NM_001039705
- Peptide Label: isoform 5
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot),   Q9BX91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_057241   ⟸   NM_016157
- Peptide Label: isoform 2
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot),   A0A024R9X0 (UniProtKB/TrEMBL),   Q9BX91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_808224   ⟸   NM_177556
- Peptide Label: isoform 2
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot),   A0A024R9X0 (UniProtKB/TrEMBL),   Q9BX90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_808225   ⟸   NM_177557
- Peptide Label: isoform 4
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot),   Q9BX88 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258112   ⟸   NM_001271183
- Peptide Label: isoform 6
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot),   B4DK08 (UniProtKB/TrEMBL),   Q9BX91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258113   ⟸   NM_001271184
- Peptide Label: isoform 7
- UniProtKB: Q9BX91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724663   ⟸   XM_006724600
- Peptide Label: isoform X1
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529111   ⟸   XM_011530809
- Peptide Label: isoform X1
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529110   ⟸   XM_011530808
- Peptide Label: isoform X1
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529114   ⟸   XM_011530812
- Peptide Label: isoform X1
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529116   ⟸   XM_011530814
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529115   ⟸   XM_011530813
- Peptide Label: isoform X1
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529113   ⟸   XM_011530811
- Peptide Label: isoform X1
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885258   ⟸   XM_017029769
- Peptide Label: isoform X3
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot),   A0A024R9X0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885262   ⟸   XM_017029773
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885257   ⟸   XM_017029768
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885261   ⟸   XM_017029772
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885259   ⟸   XM_017029770
- Peptide Label: isoform X3
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot),   A0A024R9X0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885256   ⟸   XM_017029767
- Peptide Label: isoform X1
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885260   ⟸   XM_017029771
- Peptide Label: isoform X3
- UniProtKB: Q12816 (UniProtKB/Swiss-Prot),   A0A024R9X0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308201   ⟸   XM_024452433
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000173898   ⟸   ENST00000173898
RefSeq Acc Id: ENSP00000382641   ⟸   ENST00000399736
RefSeq Acc Id: ENSP00000483142   ⟸   ENST00000622017
RefSeq Acc Id: ENSP00000388947   ⟸   ENST00000411534
RefSeq Acc Id: ENSP00000387676   ⟸   ENST00000452830
RefSeq Acc Id: ENSP00000405311   ⟸   ENST00000427099
RefSeq Acc Id: ENSP00000412588   ⟸   ENST00000453081
RefSeq Acc Id: ENSP00000364162   ⟸   ENST00000375022
RefSeq Acc Id: ENSP00000364181   ⟸   ENST00000375041
RefSeq Acc Id: ENSP00000406574   ⟸   ENST00000440759
RefSeq Acc Id: ENSP00000405043   ⟸   ENST00000440072
RefSeq Acc Id: ENSP00000404767   ⟸   ENST00000416704
RefSeq Acc Id: ENSP00000404645   ⟸   ENST00000442098
RefSeq Acc Id: ENSP00000411717   ⟸   ENST00000430420
RefSeq Acc Id: ENSP00000404794   ⟸   ENST00000445561
RefSeq Acc Id: ENSP00000407996   ⟸   ENST00000431115
RefSeq Acc Id: ENSP00000405126   ⟸   ENST00000420798
RefSeq Acc Id: ENSP00000392841   ⟸   ENST00000449980
RefSeq Acc Id: ENSP00000318278   ⟸   ENST00000319167
Protein Domains
MAGE

Promoters
RGD ID:13605416
Promoter ID:EPDNEW_H28892
Type:initiation region
Name:TRO_1
Description:trophinin
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
GRCh38X54,920,824 - 54,920,884EPDNEW
RGD ID:6808994
Promoter ID:HG_KWN:66977
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_177556,   OTTHUMT00000056833,   OTTHUMT00000056837,   OTTHUMT00000280586,   OTTHUMT00000280587,   OTTHUMT00000280588,   OTTHUMT00000280589,   OTTHUMT00000280590,   OTTHUMT00000280592,   OTTHUMT00000280593,   OTTHUMT00000280594,   OTTHUMT00000280595,   OTTHUMT00000280596,   OTTHUMT00000280598,   UC004DTS.1,   UC004DTT.1,   UC004DTU.1,   UC004DTV.1,   UC004DTW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,963,871 - 54,964,371 (+)MPROMDB
RGD ID:6809339
Promoter ID:HG_KWN:66978
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000319179,   OTTHUMT00000056835
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,964,774 - 54,965,274 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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)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: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 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
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: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: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 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 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
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 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
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)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: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: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)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 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: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-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 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 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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21
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 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 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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
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 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
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 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 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
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 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
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 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)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 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 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
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 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
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [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 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
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: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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
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 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
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: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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
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:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [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 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
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 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-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
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
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 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
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 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001039705.3(TRO):c.3345C>T (p.Thr1115=) single nucleotide variant not provided [RCV000892407] ChrX:54930069 [GRCh38]
ChrX:54956502 [GRCh37]
ChrX:Xp11.21
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
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 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12326 AgrOrtholog
COSMIC TRO COSMIC
Ensembl Genes ENSG00000067445 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000173898 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000318278 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364162 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364181 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382641 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000387676 UniProtKB/TrEMBL
  ENSP00000388947 UniProtKB/TrEMBL
  ENSP00000392841 UniProtKB/TrEMBL
  ENSP00000404645 UniProtKB/TrEMBL
  ENSP00000404767 UniProtKB/TrEMBL
  ENSP00000404794 UniProtKB/TrEMBL
  ENSP00000405126 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000405311 UniProtKB/TrEMBL
  ENSP00000406574 UniProtKB/TrEMBL
  ENSP00000407996 UniProtKB/TrEMBL
  ENSP00000411717 UniProtKB/TrEMBL
  ENSP00000412588 UniProtKB/TrEMBL
  ENSP00000483142 UniProtKB/TrEMBL
Ensembl Transcript ENST00000173898 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000319167 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375022 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375041 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399736 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000411534 UniProtKB/TrEMBL
  ENST00000416704 UniProtKB/TrEMBL
  ENST00000420798 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427099 UniProtKB/TrEMBL
  ENST00000430420 UniProtKB/TrEMBL
  ENST00000431115 UniProtKB/TrEMBL
  ENST00000440759 UniProtKB/TrEMBL
  ENST00000442098 UniProtKB/TrEMBL
  ENST00000445561 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000449980 UniProtKB/TrEMBL
  ENST00000452830 UniProtKB/TrEMBL
  ENST00000453081 UniProtKB/TrEMBL
  ENST00000622017 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.1200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.10.1210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000067445 GTEx
HGNC ID HGNC:12326 ENTREZGENE
Human Proteome Map TRO Human Proteome Map
InterPro MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGE_WH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGE_WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7216 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7216 ENTREZGENE
OMIM 300132 OMIM
PANTHER PTHR11736 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37002 PharmGKB
PROSITE MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9X0 ENTREZGENE, UniProtKB/TrEMBL
  A0A087X070_HUMAN UniProtKB/TrEMBL
  B1AKE6_HUMAN UniProtKB/TrEMBL
  B1AKE7_HUMAN UniProtKB/TrEMBL
  B1AKE8_HUMAN UniProtKB/TrEMBL
  B1AKF2_HUMAN UniProtKB/TrEMBL
  B1AKF3_HUMAN UniProtKB/TrEMBL
  B1AKF4_HUMAN UniProtKB/TrEMBL
  B1AKF5_HUMAN UniProtKB/TrEMBL
  B1AKF6_HUMAN UniProtKB/TrEMBL
  B4DK08 ENTREZGENE, UniProtKB/TrEMBL
  E7ERU6_HUMAN UniProtKB/TrEMBL
  G5E9N2_HUMAN UniProtKB/TrEMBL
  Q12816 ENTREZGENE
  Q9BX88 ENTREZGENE, UniProtKB/TrEMBL
  Q9BX89_HUMAN UniProtKB/TrEMBL
  Q9BX90 ENTREZGENE, UniProtKB/TrEMBL
  Q9BX91 ENTREZGENE, UniProtKB/TrEMBL
  TROP_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A088AWQ4 UniProtKB/TrEMBL
  A0A0E3D6M6 UniProtKB/TrEMBL
  A0A0U1RVJ7 UniProtKB/TrEMBL
  B1AKE5 UniProtKB/TrEMBL
  B1AKE9 UniProtKB/Swiss-Prot
  B1AKF1 UniProtKB/Swiss-Prot
  F5GY27 UniProtKB/Swiss-Prot
  Q96SX2 UniProtKB/Swiss-Prot
  Q9NU89 UniProtKB/Swiss-Prot
  Q9UPN8 UniProtKB/Swiss-Prot