PABIR2 (PABIR family member 2) - Rat Genome Database

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Gene: PABIR2 (PABIR family member 2) Homo sapiens
Analyze
Symbol: PABIR2
Name: PABIR family member 2
RGD ID: 1605855
HGNC Page HGNC
Description: Predicted to localize to collagen trimer; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; antirheumatic drug.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp686L20116; FAM122B; family with sequence similarity 122B; MGC131814; RP11-308B5.5; SPACIA2; synoviocyte proliferation associated in collagen-induced arthritis 2
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 EnsemblX134,769,566 - 134,797,232 (-)EnsemblGRCh38hg38GRCh38
GRCh38X134,769,566 - 134,797,217 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X133,903,596 - 133,931,235 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X133,731,262 - 133,758,378 (-)NCBINCBI36hg18NCBI36
CeleraX134,290,355 - 134,318,021 (-)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX123,302,899 - 123,329,379 (-)NCBIHuRef
CHM1_1X133,815,204 - 133,842,706 (-)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

Cellular Component

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:14702039   PMID:15146197   PMID:15489334   PMID:15489336   PMID:15772651   PMID:16381901   PMID:16964243   PMID:18029348   PMID:19615732  
PMID:22127701   PMID:26186194   PMID:26496610   PMID:26673895   PMID:27173435   PMID:27880917   PMID:28514442   PMID:28986522   PMID:31980649  


Genomics

Comparative Map Data
PABIR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX134,769,566 - 134,797,232 (-)EnsemblGRCh38hg38GRCh38
GRCh38X134,769,566 - 134,797,217 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X133,903,596 - 133,931,235 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X133,731,262 - 133,758,378 (-)NCBINCBI36hg18NCBI36
CeleraX134,290,355 - 134,318,021 (-)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX123,302,899 - 123,329,379 (-)NCBIHuRef
CHM1_1X133,815,204 - 133,842,706 (-)NCBICHM1_1
Fam122b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X52,332,292 - 52,358,728 (-)NCBIGRCm39mm39
GRCm39 EnsemblX52,332,292 - 52,358,682 (-)Ensembl
GRCm38X53,243,415 - 53,269,850 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX53,243,415 - 53,269,805 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X50,596,592 - 50,622,982 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X49,488,061 - 49,513,658 (-)NCBImm8
CeleraX40,668,449 - 40,695,187 (-)NCBICelera
Cytogenetic MapXA5NCBI
Pabir2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X132,989,124 - 133,015,625 (-)NCBI
Rnor_6.0 EnsemblX158,350,347 - 158,376,783 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 EnsemblX157,854,272 - 157,879,928 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X157,853,453 - 157,879,939 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X152,478,768 - 152,505,246 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X140,193,647 - 140,219,594NCBIRGSC3.4rn4RGSC3.4
Cytogenetic MapXq37NCBI
Pabir2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955473208,697 - 231,838 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955473207,755 - 231,781 (+)NCBIChiLan1.0ChiLan1.0
PABIR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X134,216,272 - 134,241,898 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX134,216,312 - 134,241,887 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X123,920,228 - 123,946,120 (-)NCBIMhudiblu_PPA_v0panPan3
PABIR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X105,367,621 - 105,416,545 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX105,200,746 - 105,416,596 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX91,506,991 - 91,527,288 (-)NCBI
ROS_Cfam_1.0X107,091,987 - 107,278,986 (-)NCBI
UMICH_Zoey_3.1X104,669,579 - 104,689,871 (-)NCBI
UNSW_CanFamBas_1.0X106,535,767 - 106,556,048 (-)NCBI
UU_Cfam_GSD_1.0X106,327,249 - 106,347,550 (-)NCBI
Pabir2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X103,530,438 - 103,574,110 (-)NCBI
SpeTri2.0NW_004936691383,976 - 426,911 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PABIR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX110,593,932 - 110,617,788 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X110,570,091 - 110,617,779 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X126,460,757 - 126,481,778 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PABIR2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X109,939,033 - 109,965,435 (-)NCBI
ChlSab1.1 EnsemblX109,941,606 - 109,964,434 (-)Ensembl
Pabir2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479714,473,450 - 14,496,732 (-)NCBI

Position Markers
DXS6848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,907,128 - 133,907,269UniSTSGRCh37
Build 36X133,734,794 - 133,734,935RGDNCBI36
CeleraX134,293,887 - 134,294,028RGD
Cytogenetic MapXq26.3UniSTS
HuRefX123,305,465 - 123,305,606UniSTS
G66698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,904,449 - 133,905,439UniSTSGRCh37
Build 36X133,732,115 - 133,733,105RGDNCBI36
CeleraX134,291,208 - 134,292,198RGD
Cytogenetic MapXq26.3UniSTS
SHGC-7545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,928,450 - 133,928,556UniSTSGRCh37
Build 36X133,756,116 - 133,756,222RGDNCBI36
CeleraX134,315,209 - 134,315,315RGD
Cytogenetic MapXq26.3UniSTS
HuRefX123,326,567 - 123,326,673UniSTS
RH46423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X133,905,773 - 133,905,899UniSTSGRCh37
Build 36X133,733,439 - 133,733,565RGDNCBI36
CeleraX134,292,532 - 134,292,658RGD
Cytogenetic MapXq26.3UniSTS
HuRefX123,304,158 - 123,304,284UniSTS
GeneMap99-GB4 RH MapX317.61UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6498
Count of miRNA genes:1129
Interacting mature miRNAs:1422
Transcripts:ENST00000298090, ENST00000343004, ENST00000370790, ENST00000465128, ENST00000467413, ENST00000478384, ENST00000486347, ENST00000493333
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2412 1667 1374 282 1314 127 3557 999 3283 329 1434 1602 168 1190 1999 3
Low 24 1318 352 342 636 337 799 1197 445 89 19 8 5 14 789 1 2
Below cutoff 1 4 1 1 1 6 1 6 3 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA976209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB541014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB541015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL672032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL691477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN303065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN419432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000298090   ⟹   ENSP00000298090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX134,769,567 - 134,797,232 (-)Ensembl
RefSeq Acc Id: ENST00000343004   ⟹   ENSP00000339207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX134,769,567 - 134,797,155 (-)Ensembl
RefSeq Acc Id: ENST00000370790   ⟹   ENSP00000359826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX134,769,566 - 134,797,134 (-)Ensembl
RefSeq Acc Id: ENST00000465128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX134,771,897 - 134,789,104 (-)Ensembl
RefSeq Acc Id: ENST00000478384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX134,771,096 - 134,789,104 (-)Ensembl
RefSeq Acc Id: ENST00000486347   ⟹   ENSP00000419592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX134,771,574 - 134,796,274 (-)Ensembl
RefSeq Acc Id: ENST00000493333   ⟹   ENSP00000487221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX134,772,079 - 134,797,187 (-)Ensembl
RefSeq Acc Id: ENST00000611027   ⟹   ENSP00000479150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX134,772,101 - 134,797,187 (-)Ensembl
RefSeq Acc Id: NM_001166599   ⟹   NP_001160071
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,355 (-)NCBI
GRCh37X133,903,596 - 133,931,262 (-)RGD
CeleraX134,290,355 - 134,318,021 (-)RGD
HuRefX123,302,899 - 123,329,379 (-)RGD
CHM1_1X133,815,204 - 133,842,629 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166600   ⟹   NP_001160072
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,797,205 (-)NCBI
GRCh37X133,903,596 - 133,931,262 (-)RGD
CeleraX134,290,355 - 134,318,021 (-)RGD
HuRefX123,302,899 - 123,329,379 (-)RGD
CHM1_1X133,815,204 - 133,842,706 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170756   ⟹   NP_001164227
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,355 (-)NCBI
GRCh37X133,903,596 - 133,931,262 (-)RGD
CeleraX134,290,355 - 134,318,021 (-)RGD
HuRefX123,302,899 - 123,329,379 (-)RGD
CHM1_1X133,815,204 - 133,841,829 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001170757   ⟹   NP_001164228
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,797,205 (-)NCBI
GRCh37X133,903,596 - 133,931,262 (-)RGD
CeleraX134,290,355 - 134,318,021 (-)RGD
HuRefX123,302,899 - 123,329,379 (-)RGD
CHM1_1X133,815,204 - 133,842,706 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001331088   ⟹   NP_001318017
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,355 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001331089   ⟹   NP_001318018
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,355 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001331090   ⟹   NP_001318019
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,355 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001331091   ⟹   NP_001318020
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,355 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001331092   ⟹   NP_001318021
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,355 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001331093   ⟹   NP_001318022
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,355 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001331094   ⟹   NP_001318023
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,355 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387468   ⟹   NP_001374397
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,797,205 (-)NCBI
RefSeq Acc Id: NM_001387469   ⟹   NP_001374398
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,797,205 (-)NCBI
RefSeq Acc Id: NM_145284   ⟹   NP_660327
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,355 (-)NCBI
GRCh37X133,903,596 - 133,931,262 (-)RGD
Build 36X133,731,262 - 133,758,378 (-)NCBI Archive
CeleraX134,290,355 - 134,318,021 (-)RGD
HuRefX123,302,899 - 123,329,379 (-)RGD
CHM1_1X133,815,204 - 133,841,829 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531282   ⟹   XP_011529584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,797,217 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531283   ⟹   XP_011529585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,797,217 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531284   ⟹   XP_011529586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,797,216 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531285   ⟹   XP_011529587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,258 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531286   ⟹   XP_011529588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,288 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531288   ⟹   XP_011529590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,303 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531290   ⟹   XP_011529592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,796,303 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531292   ⟹   XP_011529594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,769,566 - 134,797,217 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001160071 (Get FASTA)   NCBI Sequence Viewer  
  NP_001160072 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164227 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164228 (Get FASTA)   NCBI Sequence Viewer  
  NP_001318017 (Get FASTA)   NCBI Sequence Viewer  
  NP_001318018 (Get FASTA)   NCBI Sequence Viewer  
  NP_001318019 (Get FASTA)   NCBI Sequence Viewer  
  NP_001318020 (Get FASTA)   NCBI Sequence Viewer  
  NP_001318021 (Get FASTA)   NCBI Sequence Viewer  
  NP_001318022 (Get FASTA)   NCBI Sequence Viewer  
  NP_001318023 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374397 (Get FASTA)   NCBI Sequence Viewer  
  NP_001374398 (Get FASTA)   NCBI Sequence Viewer  
  NP_660327 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529584 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529585 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529586 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529587 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529588 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529590 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529592 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529594 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH19221 (Get FASTA)   NCBI Sequence Viewer  
  AAH32419 (Get FASTA)   NCBI Sequence Viewer  
  BAC85918 (Get FASTA)   NCBI Sequence Viewer  
  BAC85999 (Get FASTA)   NCBI Sequence Viewer  
  BAC86380 (Get FASTA)   NCBI Sequence Viewer  
  BAF85206 (Get FASTA)   NCBI Sequence Viewer  
  BAG60074 (Get FASTA)   NCBI Sequence Viewer  
  BAK74736 (Get FASTA)   NCBI Sequence Viewer  
  BAK74737 (Get FASTA)   NCBI Sequence Viewer  
  CAD98073 (Get FASTA)   NCBI Sequence Viewer  
  EAX11749 (Get FASTA)   NCBI Sequence Viewer  
  EAX11750 (Get FASTA)   NCBI Sequence Viewer  
  EAX11751 (Get FASTA)   NCBI Sequence Viewer  
  EAX11752 (Get FASTA)   NCBI Sequence Viewer  
  EAX11753 (Get FASTA)   NCBI Sequence Viewer  
  EAX11754 (Get FASTA)   NCBI Sequence Viewer  
  EAX11755 (Get FASTA)   NCBI Sequence Viewer  
  Q7Z309 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001160072   ⟸   NM_001166600
- Peptide Label: isoform 3
- UniProtKB: Q7Z309 (UniProtKB/Swiss-Prot),   B4DN12 (UniProtKB/TrEMBL),   G1UD80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164228   ⟸   NM_001170757
- Peptide Label: isoform 5
- UniProtKB: Q7Z309 (UniProtKB/Swiss-Prot),   B4DN12 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001160071   ⟸   NM_001166599
- Peptide Label: isoform 2
- UniProtKB: Q7Z309 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_660327   ⟸   NM_145284
- Peptide Label: isoform 1
- UniProtKB: Q7Z309 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164227   ⟸   NM_001170756
- Peptide Label: isoform 4
- UniProtKB: Q7Z309 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529592   ⟸   XM_011531290
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011529587   ⟸   XM_011531285
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011529586   ⟸   XM_011531284
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529588   ⟸   XM_011531286
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011529594   ⟸   XM_011531292
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011529585   ⟸   XM_011531283
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529584   ⟸   XM_011531282
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529590   ⟸   XM_011531288
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001318022   ⟸   NM_001331093
- Peptide Label: isoform 11
- Sequence:
RefSeq Acc Id: NP_001318023   ⟸   NM_001331094
- Peptide Label: isoform 12
- Sequence:
RefSeq Acc Id: NP_001318021   ⟸   NM_001331092
- Peptide Label: isoform 10
- Sequence:
RefSeq Acc Id: NP_001318020   ⟸   NM_001331091
- Peptide Label: isoform 9
- Sequence:
RefSeq Acc Id: NP_001318019   ⟸   NM_001331090
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: NP_001318018   ⟸   NM_001331089
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001318017   ⟸   NM_001331088
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: ENSP00000359826   ⟸   ENST00000370790
RefSeq Acc Id: ENSP00000487221   ⟸   ENST00000493333
RefSeq Acc Id: ENSP00000479150   ⟸   ENST00000611027
RefSeq Acc Id: ENSP00000298090   ⟸   ENST00000298090
RefSeq Acc Id: ENSP00000419592   ⟸   ENST00000486347
RefSeq Acc Id: ENSP00000339207   ⟸   ENST00000343004
RefSeq Acc Id: NP_001374397   ⟸   NM_001387468
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001374398   ⟸   NM_001387469
- Peptide Label: isofrom 14

Promoters
RGD ID:6808815
Promoter ID:HG_KWN:68123
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC004EXT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X133,756,151 - 133,756,651 (-)MPROMDB
RGD ID:6808736
Promoter ID:HG_KWN:68124
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370787,   ENST00000394264,   ENST00000394270,   ENST00000394274
Position:
Human AssemblyChrPosition (strand)Source
Build 36X133,757,816 - 133,758,822 (-)MPROMDB
RGD ID:6808816
Promoter ID:HG_KWN:68125
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:ENST00000298090,   ENST00000343004,   ENST00000370790,   NM_001166600,   NM_001170757,   NM_145284,   OTTHUMT00000058385,   OTTHUMT00000058386,   UC004EXQ.1,   UC004EXS.1,   UC004EXU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X133,758,636 - 133,759,136 (-)MPROMDB
RGD ID:13628152
Promoter ID:EPDNEW_H29351
Type:initiation region
Name:FAM122B_2
Description:family with sequence similarity 122B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29353  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,796,280 - 134,796,340EPDNEW
RGD ID:13628156
Promoter ID:EPDNEW_H29353
Type:initiation region
Name:FAM122B_1
Description:family with sequence similarity 122B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29351  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X134,797,167 - 134,797,227EPDNEW

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 Xq26.2-26.3(chrX:133909683-135211108)x1 copy number loss See cases [RCV000050881] ChrX:133909683..135211108 [GRCh38]
ChrX:133043710..134345039 [GRCh37]
ChrX:132871376..134172705 [NCBI36]
ChrX:Xq26.2-26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 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 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 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 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:134476312-134805554)x3 copy number gain See cases [RCV000133770] ChrX:134476312..134805554 [GRCh38]
ChrX:133610342..133939584 [GRCh37]
ChrX:133438008..133767250 [NCBI36]
ChrX:Xq26.2-26.3
uncertain significance
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 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 Xq26.2-26.3(chrX:134295427-134823790)x2 copy number gain See cases [RCV000138076] ChrX:134295427..134823790 [GRCh38]
ChrX:133429457..133957820 [GRCh37]
ChrX:133257123..133785486 [NCBI36]
ChrX:Xq26.2-26.3
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq26.3(chrX:134617810-134911506)x3 copy number gain See cases [RCV000138700] ChrX:134617810..134911506 [GRCh38]
ChrX:133751840..134045536 [GRCh37]
ChrX:133579506..133873202 [NCBI36]
ChrX:Xq26.3
likely benign
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xq26.2-26.3(chrX:133532321-137519462)x2 copy number gain See cases [RCV000140818] ChrX:133532321..137519462 [GRCh38]
ChrX:132666349..136601621 [GRCh37]
ChrX:132494015..136429287 [NCBI36]
ChrX:Xq26.2-26.3
likely 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 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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 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: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: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 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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [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 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 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:133107292-134142245)x2 copy number gain See cases [RCV000446156] ChrX:133107292..134142245 [GRCh37]
ChrX:Xq26.2-26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:132183437-134848915)x2 copy number gain See cases [RCV000512017] ChrX:132183437..134848915 [GRCh37]
ChrX:Xq26.2-26.3
uncertain significance
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 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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX: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 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:133081342-135086194)x0 copy number loss See cases [RCV000510757] ChrX:133081342..135086194 [GRCh37]
ChrX:Xq26.2-26.3
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 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
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 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq26.3(chrX:133639531-133906465)x2 copy number gain not provided [RCV000753791] ChrX:133639531..133906465 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
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 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely 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
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
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 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq26.2-26.3(chrX:132268495-134235471)x2 copy number gain not provided [RCV001260046] ChrX:132268495..134235471 [GRCh37]
ChrX:Xq26.2-26.3
uncertain significance
GRCh37/hg19 Xq26.3(chrX:133771926-134162280)x2 copy number gain not provided [RCV001260047] ChrX:133771926..134162280 [GRCh37]
ChrX:Xq26.3
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
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30490 AgrOrtholog
COSMIC PABIR2 COSMIC
Ensembl Genes ENSG00000156504 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000298090 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000339207 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000359826 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000419592 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479150 UniProtKB/TrEMBL
  ENSP00000487221 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000298090 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000343004 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000370790 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000486347 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000493333 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000611027 UniProtKB/TrEMBL
GTEx ENSG00000156504 GTEx
HGNC ID HGNC:30490 ENTREZGENE
Human Proteome Map PABIR2 Human Proteome Map
InterPro FAM122 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:159090 UniProtKB/Swiss-Prot
NCBI Gene 159090 ENTREZGENE
PANTHER PTHR22227 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394763 PharmGKB
UniProt B4DN12 ENTREZGENE, UniProtKB/TrEMBL
  F122B_HUMAN UniProtKB/Swiss-Prot
  G1UD79_HUMAN UniProtKB/TrEMBL
  G1UD80 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z309 ENTREZGENE
UniProt Secondary A0A087WV35 UniProtKB/TrEMBL
  A8K902 UniProtKB/Swiss-Prot
  Q6PIM2 UniProtKB/Swiss-Prot
  Q6ZU47 UniProtKB/Swiss-Prot
  Q6ZV64 UniProtKB/Swiss-Prot
  Q6ZVE4 UniProtKB/Swiss-Prot
  Q8TB75 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-10-19 PABIR2  PABIR family member 2  FAM122B  family with sequence similarity 122B  Symbol and/or name change 19259463 PROVISIONAL