CD99L2 (CD99 molecule like 2) - Rat Genome Database

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Gene: CD99L2 (CD99 molecule like 2) Homo sapiens
Analyze
Symbol: CD99L2
Name: CD99 molecule like 2
RGD ID: 735542
HGNC Page HGNC
Description: Predicted to be involved in homotypic cell-cell adhesion. Localizes to focal adhesion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD99 antigen-like protein 2; CD99 molecule-like 2; CD99B; DKFZp761H2024; MIC2 like 1; MIC2-like protein 1; MIC2L1
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 EnsemblX150,766,336 - 150,898,816 (-)EnsemblGRCh38hg38GRCh38
GRCh38X150,766,336 - 150,898,717 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X149,934,809 - 150,067,141 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X149,685,467 - 149,817,837 (-)NCBINCBI36hg18NCBI36
Build 34X149,608,051 - 149,737,665NCBI
CeleraX150,182,357 - 150,315,225 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX138,794,255 - 138,926,584 (-)NCBIHuRef
CHM1_1X149,809,144 - 149,941,706 (-)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:11076863   PMID:11230166   PMID:12477932   PMID:12706889   PMID:12975309   PMID:14702039   PMID:15489336   PMID:16381901   PMID:18163232   PMID:21423176   PMID:21873635   PMID:25416956  
PMID:25666757   PMID:26439863   PMID:26496610   PMID:26638075   PMID:26760575   PMID:26871637   PMID:28514442   PMID:29791485   PMID:32296183  


Genomics

Comparative Map Data
CD99L2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX150,766,336 - 150,898,816 (-)EnsemblGRCh38hg38GRCh38
GRCh38X150,766,336 - 150,898,717 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X149,934,809 - 150,067,141 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X149,685,467 - 149,817,837 (-)NCBINCBI36hg18NCBI36
Build 34X149,608,051 - 149,737,665NCBI
CeleraX150,182,357 - 150,315,225 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX138,794,255 - 138,926,584 (-)NCBIHuRef
CHM1_1X149,809,144 - 149,941,706 (-)NCBICHM1_1
Cd99l2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X70,463,666 - 70,536,467 (-)NCBIGRCm39mm39
GRCm39 EnsemblX70,463,666 - 70,536,455 (-)Ensembl
GRCm38X71,420,060 - 71,492,866 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX71,420,060 - 71,492,849 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X68,673,245 - 68,745,820 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X67,680,626 - 67,753,201 (-)NCBImm8
CeleraX62,400,179 - 62,472,985 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
Cd99l2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0 Ensembl155,265,307 - 5,311,233 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl155,715,592 - 5,894,854 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0155,265,257 - 5,311,232 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0159,928,042 - 9,962,371 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0159,351,873 - 9,397,808 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4155,673,664 - 5,719,158 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1155,673,663 - 5,719,158 (+)NCBI
Cytogenetic Map15p16NCBI
Cd99l2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554986,529,039 - 6,591,728 (-)NCBIChiLan1.0ChiLan1.0
CD99L2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X150,348,277 - 150,430,206 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X140,416,510 - 140,548,193 (-)NCBIMhudiblu_PPA_v0panPan3
CD99L2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X119,000,342 - 119,041,859 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX119,002,029 - 119,090,682 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX104,381,618 - 104,476,417 (-)NCBI
ROS_Cfam_1.0X121,220,340 - 121,315,308 (-)NCBI
UMICH_Zoey_3.1X117,946,122 - 118,041,070 (-)NCBI
UNSW_CanFamBas_1.0X120,424,046 - 120,518,972 (-)NCBI
UU_Cfam_GSD_1.0X120,306,658 - 120,401,458 (-)NCBI
Cd99l2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X116,566,592 - 116,664,265 (-)NCBI
SpeTri2.0NW_0049367141,592,214 - 1,690,811 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD99L2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX122,456,670 - 122,535,870 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X122,456,668 - 122,535,989 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X140,071,641 - 140,150,898 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CD99L2
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Cd99l2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249231,143,884 - 1,219,746 (-)NCBI

Position Markers
WI-4154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,995,455 - 149,995,598UniSTSGRCh37
Build 36X149,746,113 - 149,746,256RGDNCBI36
CeleraX150,243,360 - 150,243,503RGD
Cytogenetic MapXq28UniSTS
HuRefX138,854,870 - 138,855,013UniSTS
Whitehead-RH MapX314.8UniSTS
DXS903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,998,696 - 149,998,853UniSTSGRCh37
Build 36X149,749,354 - 149,749,511RGDNCBI36
CeleraX150,246,601 - 150,246,758RGD
Cytogenetic MapXq28UniSTS
HuRefX138,858,152 - 138,858,309UniSTS
DXS911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,998,701 - 149,998,862UniSTSGRCh37
Build 36X149,749,359 - 149,749,520RGDNCBI36
CeleraX150,246,606 - 150,246,767RGD
Cytogenetic MapXq28UniSTS
HuRefX138,858,157 - 138,858,318UniSTS
A007J06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,952,157 - 149,952,402UniSTSGRCh37
Build 36X149,702,815 - 149,703,060RGDNCBI36
CeleraX150,199,699 - 150,199,944RGD
Cytogenetic MapXq28UniSTS
HuRefX138,811,693 - 138,811,938UniSTS
GeneMap99-GB4 RH MapX347.01UniSTS
WI-12644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,952,121 - 149,952,270UniSTSGRCh37
Build 36X149,702,779 - 149,702,928RGDNCBI36
CeleraX150,199,663 - 150,199,812RGD
Cytogenetic MapXq28UniSTS
HuRefX138,811,657 - 138,811,806UniSTS
GeneMap99-GB4 RH MapX349.01UniSTS
Whitehead-RH MapX314.8UniSTS
RH78121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,935,034 - 149,935,194UniSTSGRCh37
Build 36X149,685,692 - 149,685,852RGDNCBI36
CeleraX150,182,582 - 150,182,742RGD
Cytogenetic MapXq28UniSTS
HuRefX138,794,480 - 138,794,640UniSTS
GeneMap99-GB4 RH MapX351.93UniSTS
CD99L2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X149,944,648 - 149,944,759UniSTSGRCh37
CeleraX150,192,196 - 150,192,307UniSTS
HuRefX138,804,249 - 138,804,360UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8150
Count of miRNA genes:1341
Interacting mature miRNAs:1683
Transcripts:ENST00000320893, ENST00000346693, ENST00000355149, ENST00000370377, ENST00000418547, ENST00000437787, ENST00000466436, ENST00000491877
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 2150 2424 1642 519 1387 398 3980 2106 3673 379 1353 1592 134 1202 2683 4
Low 286 565 84 104 562 66 376 91 60 40 102 21 41 1 2 105 1 1
Below cutoff 1 2 2 1 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_134445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_134446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF002223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF274573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY078165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY078166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY078167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC323066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000346693   ⟹   ENSP00000489222
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,766,337 - 150,898,630 (-)Ensembl
RefSeq Acc Id: ENST00000355149   ⟹   ENSP00000347275
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,768,367 - 150,898,626 (-)Ensembl
RefSeq Acc Id: ENST00000370377   ⟹   ENSP00000359403
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,766,336 - 150,898,668 (-)Ensembl
RefSeq Acc Id: ENST00000418547   ⟹   ENSP00000391821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,776,902 - 150,831,248 (-)Ensembl
RefSeq Acc Id: ENST00000437787   ⟹   ENSP00000394858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,766,339 - 150,898,816 (-)Ensembl
RefSeq Acc Id: ENST00000466436   ⟹   ENSP00000417697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,768,729 - 150,898,629 (-)Ensembl
RefSeq Acc Id: ENST00000491877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,814,900 - 150,898,609 (-)Ensembl
RefSeq Acc Id: ENST00000613030   ⟹   ENSP00000480322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,766,339 - 150,898,816 (-)Ensembl
RefSeq Acc Id: ENST00000634795   ⟹   ENSP00000489166
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX150,768,977 - 150,814,864 (-)Ensembl
RefSeq Acc Id: NM_001184808   ⟹   NP_001171737
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,766,336 - 150,898,668 (-)NCBI
GRCh37X149,934,809 - 150,067,289 (-)RGD
CeleraX150,182,357 - 150,315,225 (-)RGD
HuRefX138,794,255 - 138,926,584 (-)ENTREZGENE
CHM1_1X149,809,144 - 149,941,706 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242614   ⟹   NP_001229543
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,766,336 - 150,898,668 (-)NCBI
GRCh37X149,934,809 - 150,067,289 (-)ENTREZGENE
HuRefX138,794,255 - 138,926,584 (-)ENTREZGENE
CHM1_1X149,809,144 - 149,941,706 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031462   ⟹   NP_113650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,766,336 - 150,898,668 (-)NCBI
GRCh37X149,934,809 - 150,067,289 (-)RGD
Build 36X149,685,467 - 149,817,837 (-)NCBI Archive
CeleraX150,182,357 - 150,315,225 (-)RGD
HuRefX138,794,255 - 138,926,584 (-)ENTREZGENE
CHM1_1X149,809,144 - 149,941,706 (-)NCBI
Sequence:
RefSeq Acc Id: NM_134445   ⟹   NP_604394
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,766,336 - 150,898,668 (-)NCBI
GRCh37X149,934,809 - 150,067,289 (-)RGD
Build 36X149,685,467 - 149,817,837 (-)NCBI Archive
CeleraX150,182,357 - 150,315,225 (-)RGD
HuRefX138,794,255 - 138,926,584 (-)ENTREZGENE
CHM1_1X149,809,144 - 149,941,706 (-)NCBI
Sequence:
RefSeq Acc Id: NM_134446   ⟹   NP_604395
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,766,336 - 150,898,668 (-)NCBI
GRCh37X149,934,809 - 150,067,289 (-)RGD
Build 36X149,685,467 - 149,817,837 (-)NCBI Archive
CeleraX150,182,357 - 150,315,225 (-)RGD
HuRefX138,794,255 - 138,926,584 (-)ENTREZGENE
CHM1_1X149,809,144 - 149,941,706 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531202   ⟹   XP_011529504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,829,241 - 150,898,717 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029890   ⟹   XP_016885379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,770,714 - 150,898,664 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029891   ⟹   XP_016885380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X150,770,394 - 150,898,626 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001171737 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229543 (Get FASTA)   NCBI Sequence Viewer  
  NP_113650 (Get FASTA)   NCBI Sequence Viewer  
  NP_604394 (Get FASTA)   NCBI Sequence Viewer  
  NP_604395 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529504 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885379 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885380 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH07569 (Get FASTA)   NCBI Sequence Viewer  
  AAH13029 (Get FASTA)   NCBI Sequence Viewer  
  AAH25729 (Get FASTA)   NCBI Sequence Viewer  
  AAH30536 (Get FASTA)   NCBI Sequence Viewer  
  AAL86617 (Get FASTA)   NCBI Sequence Viewer  
  AAL86618 (Get FASTA)   NCBI Sequence Viewer  
  AAL86619 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89196 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34255 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34256 (Get FASTA)   NCBI Sequence Viewer  
  BAF82889 (Get FASTA)   NCBI Sequence Viewer  
  BAF84064 (Get FASTA)   NCBI Sequence Viewer  
  BAG54124 (Get FASTA)   NCBI Sequence Viewer  
  BAG56778 (Get FASTA)   NCBI Sequence Viewer  
  BAG58211 (Get FASTA)   NCBI Sequence Viewer  
  CAB66515 (Get FASTA)   NCBI Sequence Viewer  
  EAW99389 (Get FASTA)   NCBI Sequence Viewer  
  EAW99390 (Get FASTA)   NCBI Sequence Viewer  
  EAW99391 (Get FASTA)   NCBI Sequence Viewer  
  EAW99392 (Get FASTA)   NCBI Sequence Viewer  
  EAW99393 (Get FASTA)   NCBI Sequence Viewer  
  EAW99394 (Get FASTA)   NCBI Sequence Viewer  
  EAW99395 (Get FASTA)   NCBI Sequence Viewer  
  EAW99396 (Get FASTA)   NCBI Sequence Viewer  
  Q8TCZ2 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001171737   ⟸   NM_001184808
- Peptide Label: isoform 4 precursor
- UniProtKB: Q8TCZ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_604394   ⟸   NM_134445
- Peptide Label: isoform 3 precursor
- UniProtKB: Q8TCZ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_113650   ⟸   NM_031462
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8TCZ2 (UniProtKB/Swiss-Prot),   A0A024RC16 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_604395   ⟸   NM_134446
- Peptide Label: isoform 2 precursor
- UniProtKB: Q8TCZ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229543   ⟸   NM_001242614
- Peptide Label: isoform 5 precursor
- UniProtKB: Q8TCZ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529504   ⟸   XM_011531202
- Peptide Label: isoform X3
- UniProtKB: Q8TCZ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885380   ⟸   XM_017029891
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885379   ⟸   XM_017029890
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000394858   ⟸   ENST00000437787
RefSeq Acc Id: ENSP00000359403   ⟸   ENST00000370377
RefSeq Acc Id: ENSP00000489166   ⟸   ENST00000634795
RefSeq Acc Id: ENSP00000489222   ⟸   ENST00000346693
RefSeq Acc Id: ENSP00000417697   ⟸   ENST00000466436
RefSeq Acc Id: ENSP00000480322   ⟸   ENST00000613030
RefSeq Acc Id: ENSP00000391821   ⟸   ENST00000418547
RefSeq Acc Id: ENSP00000347275   ⟸   ENST00000355149

Promoters
RGD ID:6815692
Promoter ID:HG_MRA:17371
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:BC019857
Position:
Human AssemblyChrPosition (strand)Source
Build 36X149,685,316 - 149,685,816 (-)MPROMDB
RGD ID:6813783
Promoter ID:HG_ACW:85124
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:CD99L2.KAPR07,   CD99L2.VAAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36X149,691,236 - 149,691,736 (-)MPROMDB
RGD ID:6808632
Promoter ID:HG_KWN:68420
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:UC004FEK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X149,734,431 - 149,734,931 (-)MPROMDB
RGD ID:6808587
Promoter ID:HG_KWN:68422
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000320893,   ENST00000355330,   NM_001184808,   OTTHUMT00000061202,   UC004FEL.1,   UC004FEM.1,   UC004FEN.1,   UC004FEO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X149,817,676 - 149,818,877 (-)MPROMDB
RGD ID:13628328
Promoter ID:EPDNEW_H29439
Type:initiation region
Name:CD99L2_1
Description:CD99 molecule like 2
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
GRCh38X150,898,626 - 150,898,686EPDNEW

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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
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:10679-156013167)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 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
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 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 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 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
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 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 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 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 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 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
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 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 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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: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: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 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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 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 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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: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 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 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
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 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 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
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 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 Xq27.1-28(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 Xq28(chrX:150574214-150838596)x2 copy number gain See cases [RCV000141404] ChrX:150574214..150838596 [GRCh38]
ChrX:149742664..150007069 [GRCh37]
ChrX:149493322..149757727 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 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 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 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 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
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 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 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)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 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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
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 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:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 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
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 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 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
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
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 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.3-28(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 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
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 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] 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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
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_031462.4(CD99L2):c.523G>A (p.Asp175Asn) single nucleotide variant Neurodevelopmental disorder [RCV001262762]|not provided [RCV000907155] ChrX:150777456 [GRCh38]
ChrX:149945929 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh37/hg19 Xq28(chrX:150046358-150080894)x3 copy number gain not provided [RCV000846062] ChrX:150046358..150080894 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:149838580-150125188)x2 copy number gain not provided [RCV000848881] ChrX:149838580..150125188 [GRCh37]
ChrX:Xq28
uncertain significance
NM_031462.4(CD99L2):c.782G>A (p.Arg261Gln) single nucleotide variant not provided [RCV000943131] ChrX:150769041 [GRCh38]
ChrX:149937514 [GRCh37]
ChrX:Xq28
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
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_031462.4(CD99L2):c.759G>A (p.Pro253=) single nucleotide variant not provided [RCV000923665] ChrX:150769064 [GRCh38]
ChrX:149937537 [GRCh37]
ChrX:Xq28
benign
NC_000023.10:g.(?_149761067)_(150573540_?)dup duplication Severe X-linked myotubular myopathy [RCV001031813] ChrX:149761067..150573540 [GRCh37]
ChrX:Xq28
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 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 Xq28(chrX:149702307-149971697)x3 copy number gain not provided [RCV001258417] ChrX:149702307..149971697 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:149747506-150037141)x3 copy number gain not provided [RCV001260063] ChrX:149747506..150037141 [GRCh37]
ChrX:Xq28
uncertain significance
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:18237 AgrOrtholog
COSMIC CD99L2 COSMIC
Ensembl Genes ENSG00000102181 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000347275 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359403 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391821 UniProtKB/TrEMBL
  ENSP00000394858 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000417697 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000480322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000489166 UniProtKB/TrEMBL
  ENSP00000489222 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000346693 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000355149 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370377 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000418547 UniProtKB/TrEMBL
  ENST00000437787 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000466436 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000613030 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000634795 UniProtKB/TrEMBL
GTEx ENSG00000102181 GTEx
HGNC ID HGNC:18237 ENTREZGENE
Human Proteome Map CD99L2 Human Proteome Map
InterPro CD99L2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83692 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 83692 ENTREZGENE
OMIM 300846 OMIM
PANTHER PTHR15076 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CD99L2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30805 PharmGKB
UniProt A0A024RC16 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5R8_HUMAN UniProtKB/TrEMBL
  A0A0U1RQT8_HUMAN UniProtKB/TrEMBL
  C99L2_HUMAN UniProtKB/Swiss-Prot
  H0Y4H3_HUMAN UniProtKB/TrEMBL
  Q8TCZ2 ENTREZGENE
  Q96E20_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K2D5 UniProtKB/Swiss-Prot
  A8K5R0 UniProtKB/Swiss-Prot
  B3KWG2 UniProtKB/Swiss-Prot
  B4DDL7 UniProtKB/Swiss-Prot
  E7EMK5 UniProtKB/Swiss-Prot
  E9PD27 UniProtKB/Swiss-Prot
  Q8TAW2 UniProtKB/Swiss-Prot
  Q8TCZ0 UniProtKB/Swiss-Prot
  Q8TCZ1 UniProtKB/Swiss-Prot
  Q96IF7 UniProtKB/TrEMBL
  Q9BQG9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 CD99L2  CD99 molecule like 2    CD99 molecule-like 2  Symbol and/or name change 5135510 APPROVED