TSR2 (TSR2 ribosome maturation factor) - Rat Genome Database

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Gene: TSR2 (TSR2 ribosome maturation factor) Homo sapiens
Analyze
Symbol: TSR2
Name: TSR2 ribosome maturation factor
RGD ID: 1602842
HGNC Page HGNC
Description: Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Implicated in Diamond-Blackfan anemia 14 with mandibulofacial dysostosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DBA14; DT1P1A10; escortin; MGC20451; pre-rRNA-processing protein TSR2 homolog; RP1-112K5.2; TSR2, 20S rRNA accumulation, homolog; TSR2, 20S rRNA accumulation, homolog (S. cerevisiae); TSR2, ribosome maturation factor; WGG motif containing 1; WGG1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX54,440,404 - 54,448,032 (+)EnsemblGRCh38hg38GRCh38
GRCh38X54,440,404 - 54,448,032 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,466,837 - 54,474,465 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X54,483,578 - 54,488,455 (+)NCBINCBI36hg18NCBI36
CeleraX58,299,414 - 58,304,291 (+)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX51,518,075 - 51,522,307 (+)NCBIHuRef
CHM1_1X54,457,507 - 54,462,384 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of the thenar eminence  (IAGP)
Absent thumb  (IAGP)
Acute myeloid leukemia  (IAGP)
Adenocarcinoma of the colon  (IAGP)
Atrial septal defect  (IAGP)
Cleft lip  (IAGP)
Cleft soft palate  (IAGP)
Coarctation of aorta  (IAGP)
Conductive hearing impairment  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Developmental glaucoma  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elevated red cell adenosine deaminase level  (IAGP)
Epicanthus  (IAGP)
Erythroid hypoplasia  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hypertelorism  (IAGP)
Hypospadias  (IAGP)
Increased mean corpuscular volume  (IAGP)
Lethargy  (IAGP)
Leukopenia  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Macrocytic anemia  (IAGP)
Macrocytic dyserythropoietic anemia  (IAGP)
Malignant genitourinary tract tumor  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Myelodysplasia  (IAGP)
Neurodevelopmental delay  (IAGP)
Neutropenia  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Normochromic anemia  (IAGP)
Osteosarcoma  (IAGP)
Pallor  (IAGP)
Partial duplication of thumb phalanx  (IAGP)
Persistence of hemoglobin F  (IAGP)
Ptosis  (IAGP)
Pure red cell aplasia  (IAGP)
Radial artery aplasia  (IAGP)
Renal agenesis  (IAGP)
Reticulocytopenia  (IAGP)
Schizophrenia  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Small for gestational age  (IAGP)
Sparse eyelashes  (IAGP)
Sprengel anomaly  (IAGP)
Strabismus  (IAGP)
Thrombocytopenia  (IAGP)
Thrombocytosis  (IAGP)
Triphalangeal thumb  (IAGP)
Ventricular septal defect  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:9417904   PMID:12477932   PMID:16189514   PMID:17207965   PMID:19060904   PMID:19615732   PMID:20301769   PMID:20562859   PMID:21790011   PMID:21873635   PMID:22810586   PMID:24942156  
PMID:25416956   PMID:26344197   PMID:26760575   PMID:30201955   PMID:32296183  


Genomics

Comparative Map Data
TSR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX54,440,404 - 54,448,032 (+)EnsemblGRCh38hg38GRCh38
GRCh38X54,440,404 - 54,448,032 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,466,837 - 54,474,465 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X54,483,578 - 54,488,455 (+)NCBINCBI36hg18NCBI36
CeleraX58,299,414 - 58,304,291 (+)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX51,518,075 - 51,522,307 (+)NCBIHuRef
CHM1_1X54,457,507 - 54,462,384 (+)NCBICHM1_1
Tsr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X149,870,090 - 149,879,539 (-)NCBIGRCm39mm39
GRCm39 EnsemblX149,870,090 - 149,879,539 (-)Ensembl
GRCm38X151,087,094 - 151,096,543 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX151,087,094 - 151,096,543 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X147,521,637 - 147,531,086 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X146,428,025 - 146,437,234 (-)NCBImm8
CeleraX133,307,018 - 133,317,146 (+)NCBICelera
Cytogenetic MapXF3NCBI
Tsr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X20,064,102 - 20,072,673 (-)NCBI
Rnor_6.0 EnsemblX20,144,432 - 20,232,639 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X20,141,406 - 20,146,082 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X20,968,908 - 20,977,426 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
CeleraX20,321,354 - 20,329,877 (-)NCBICelera
Cytogenetic MapXq12NCBI
Tsr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554751,698,136 - 1,703,404 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554751,698,926 - 1,703,404 (+)NCBIChiLan1.0ChiLan1.0
TSR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X54,875,679 - 54,883,324 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX54,875,696 - 54,880,809 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X46,643,659 - 46,648,829 (+)NCBIMhudiblu_PPA_v0panPan3
TSR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X46,189,810 - 46,194,949 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX46,189,870 - 46,296,966 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX37,578,758 - 37,583,898 (+)NCBI
ROS_Cfam_1.0X46,511,181 - 46,516,318 (+)NCBI
UMICH_Zoey_3.1X46,008,993 - 46,014,130 (+)NCBI
UNSW_CanFamBas_1.0X46,459,373 - 46,464,505 (+)NCBI
UU_Cfam_GSD_1.0X46,526,670 - 46,531,808 (+)NCBI
Tsr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X39,010,776 - 39,015,724 (+)NCBI
SpeTri2.0NW_0049367511,350,542 - 1,355,449 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX47,186,604 - 47,192,460 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X47,186,610 - 47,192,465 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X53,043,987 - 53,049,415 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TSR2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X50,532,958 - 50,555,179 (+)NCBI
Vero_WHO_p1.0NW_0236660864,515,626 - 4,523,216 (+)NCBI
Tsr2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249092,311,494 - 2,316,358 (+)NCBI

Position Markers
SGC30464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,471,925 - 54,472,039UniSTSGRCh37
Build 36X54,488,650 - 54,488,764RGDNCBI36
CeleraX58,304,486 - 58,304,600RGD
Cytogenetic MapXp11.21UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX51,522,502 - 51,522,616UniSTS
GeneMap99-GB4 RH MapX174.07UniSTS
Whitehead-RH MapX98.2UniSTS
SHGC-24021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,471,967 - 54,472,090UniSTSGRCh37
Build 36X54,488,692 - 54,488,815RGDNCBI36
CeleraX58,304,528 - 58,304,651RGD
Cytogenetic MapXp11.21UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX51,522,544 - 51,522,667UniSTS
GeneMap99-G3 RH MapX1571.0UniSTS
RH75708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,471,669 - 54,471,865UniSTSGRCh37
Build 36X54,488,394 - 54,488,590RGDNCBI36
CeleraX58,304,230 - 58,304,426RGD
Cytogenetic MapXp11.21UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX51,522,246 - 51,522,442UniSTS
G35013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X54,471,731 - 54,471,847UniSTSGRCh37
Build 36X54,488,456 - 54,488,572RGDNCBI36
CeleraX58,304,292 - 58,304,408RGD
Cytogenetic MapXp11.21UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX51,522,308 - 51,522,424UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:509
Count of miRNA genes:404
Interacting mature miRNAs:452
Transcripts:ENST00000375151
Prediction methods:Miranda, 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 2439 2794 1719 617 1818 458 4357 2132 3734 418 1460 1613 174 1 1204 2788 6 2
Low 197 7 7 133 7 65 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000375151   ⟹   ENSP00000364293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX54,440,404 - 54,448,032 (+)Ensembl
RefSeq Acc Id: NM_001346789   ⟹   NP_001333718
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,440,404 - 54,448,032 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346790   ⟹   NP_001333719
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,440,404 - 54,448,032 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346791   ⟹   NP_001333720
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,440,404 - 54,448,032 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001346792   ⟹   NP_001333721
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,440,404 - 54,448,032 (+)NCBI
Sequence:
RefSeq Acc Id: NM_058163   ⟹   NP_477511
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,440,404 - 54,448,032 (+)NCBI
GRCh37X54,466,853 - 54,471,730 (+)RGD
Build 36X54,483,578 - 54,488,455 (+)NCBI Archive
CeleraX58,299,414 - 58,304,291 (+)RGD
HuRefX51,518,075 - 51,522,307 (+)ENTREZGENE
CHM1_1X54,457,507 - 54,462,384 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_477511   ⟸   NM_058163
- Peptide Label: isoform a
- UniProtKB: Q969E8 (UniProtKB/Swiss-Prot),   A0A024R9U9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333720   ⟸   NM_001346791
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001333719   ⟸   NM_001346790
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001333718   ⟸   NM_001346789
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001333721   ⟸   NM_001346792
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: ENSP00000364293   ⟸   ENST00000375151

Promoters
RGD ID:13605402
Promoter ID:EPDNEW_H28885
Type:multiple initiation site
Name:TSR2_1
Description:TSR2, ribosome maturation factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X54,440,406 - 54,440,466EPDNEW
RGD ID:6809345
Promoter ID:HG_KWN:66965
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056802,   UC004DTF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X54,483,451 - 54,483,957 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 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 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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: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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) single nucleotide variant Aarskog syndrome [RCV000659639] ChrX:54446267 [GRCh38]
ChrX:54472700 [GRCh37]
ChrX:Xp11.22
likely 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
NM_004463.3(FGD1):c.2735G>A (p.Trp912Ter) single nucleotide variant not provided [RCV001291570] ChrX:54446260 [GRCh38]
ChrX:54472693 [GRCh37]
ChrX:Xp11.22
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 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2 copy number gain See cases [RCV000135877] ChrX:53764152..58014767 [GRCh38]
ChrX:53790650..58041201 [GRCh37]
ChrX:53807375..58057926 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 copy number gain See cases [RCV000137412] ChrX:53750365..63089185 [GRCh38]
ChrX:53776863..62203737 [GRCh37]
ChrX:53793588..62225380 [NCBI36]
ChrX:Xp11.22-q11.1
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) single nucleotide variant Diamond-Blackfan anemia 14 with mandibulofacial dysostosis [RCV000167572]|Diamond-Blackfan anemia 15 with mandibulofacial dysostosis [RCV000191915] ChrX:54443418 [GRCh38]
ChrX:54469851 [GRCh37]
ChrX:Xp11.22
pathogenic|not provided
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 Xp22.2-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:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [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
NM_004463.3(FGD1):c.2568C>T (p.Tyr856=) single nucleotide variant History of neurodevelopmental disorder [RCV000717311]|not provided [RCV000879206]|not specified [RCV000153231] ChrX:54447323 [GRCh38]
ChrX:54473756 [GRCh37]
ChrX:Xp11.22
benign|likely benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_004463.3(FGD1):c.2761C>T (p.Arg921Ter) single nucleotide variant Aarskog syndrome [RCV000210282] ChrX:54446234 [GRCh38]
ChrX:54472667 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2751C>T (p.Gly917=) single nucleotide variant not provided [RCV000326916] ChrX:54446244 [GRCh38]
ChrX:54472677 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000719590]|not provided [RCV000378971] ChrX:54446179 [GRCh38]
ChrX:54472612 [GRCh37]
ChrX:Xp11.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [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 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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: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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22(chrX:53797930-54608609)x3 copy number gain See cases [RCV000448260] ChrX:53797930..54608609 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_004463.3(FGD1):c.2719G>T (p.Glu907Ter) single nucleotide variant not provided [RCV000490039] ChrX:54446276 [GRCh38]
ChrX:54472709 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu) single nucleotide variant not provided [RCV000153230] ChrX:54446209 [GRCh38]
ChrX:54472642 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.*36C>T single nucleotide variant not specified [RCV000081081] ChrX:54446073 [GRCh38]
ChrX:54472506 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_004463.3(FGD1):c.2619C>T (p.Phe873=) single nucleotide variant not provided [RCV000711632] ChrX:54446376 [GRCh38]
ChrX:54472809 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_004463.3(FGD1):c.2563A>G (p.Ile855Val) single nucleotide variant not provided [RCV000711631] ChrX:54447328 [GRCh38]
ChrX:54473761 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004463.3(FGD1):c.2805G>A (p.Arg935=) single nucleotide variant History of neurodevelopmental disorder [RCV000717925] ChrX:54446190 [GRCh38]
ChrX:54472623 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004463.3(FGD1):c.2757G>A (p.Ala919=) single nucleotide variant History of neurodevelopmental disorder [RCV000718835]|not provided [RCV000865160] ChrX:54446238 [GRCh38]
ChrX:54472671 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_004463.3(FGD1):c.2821C>T (p.Pro941Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000719467] ChrX:54446174 [GRCh38]
ChrX:54472607 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_004463.3(FGD1):c.2581-6C>T single nucleotide variant not provided [RCV000968804]|not specified [RCV001195434] ChrX:54446420 [GRCh38]
ChrX:54472853 [GRCh37]
ChrX:Xp11.22
benign
NM_058163.3(TSR2):c.234T>C (p.Asp78=) single nucleotide variant not provided [RCV000880358] ChrX:54443461 [GRCh38]
ChrX:54469894 [GRCh37]
ChrX:Xp11.22
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25455 AgrOrtholog
COSMIC TSR2 COSMIC
Ensembl Genes ENSG00000158526 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000364293 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000375151 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000158526 GTEx
HGNC ID HGNC:25455 ENTREZGENE
Human Proteome Map TSR2 Human Proteome Map
InterPro Pre-rRNA_process_TSR2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:90121 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 90121 ENTREZGENE
OMIM 300945 OMIM
  300946 OMIM
PANTHER PTHR21250 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam WGG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145147877 PharmGKB
UniProt A0A024R9U9 ENTREZGENE, UniProtKB/TrEMBL
  Q969E8 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 TSR2  TSR2 ribosome maturation factor    TSR2, ribosome maturation factor  Symbol and/or name change 5135510 APPROVED
2016-04-26 TSR2  TSR2, ribosome maturation factor    TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED