ASMT (acetylserotonin O-methyltransferase) - Rat Genome Database

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Gene: ASMT (acetylserotonin O-methyltransferase) Homo sapiens
Analyze
Symbol: ASMT
Name: acetylserotonin O-methyltransferase
RGD ID: 1353638
HGNC Page HGNC
Description: Enables acetylserotonin O-methyltransferase activity and protein homodimerization activity. Involved in melatonin biosynthetic process. Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acetylserotonin methyltransferase (Y chromosome); acetylserotonin N-methyltransferase; ASMTY; HIOMT; HIOMTY; hydroxyindole O-methyltransferase
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 EnsemblX1,615,059 - 1,643,081 (+)EnsemblGRCh38hg38GRCh38
GRCh38Y1,595,455 - 1,643,081 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X1,595,455 - 1,643,081 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X1,714,348 - 1,761,974 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37Y1,664,348 - 1,711,974 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y1,674,348 - 1,721,974 (+)NCBINCBI36hg18NCBI36
Build 36X1,674,348 - 1,721,974 (+)NCBINCBI36hg18NCBI36
Build 34Y1,758,174 - 1,805,801NCBI
CeleraX5,992,483 - 6,035,986 (+)NCBI
Cytogenetic MapX;YNCBI
CHM1_1X1,744,907 - 1,789,431 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:1878930   PMID:7989373   PMID:8098975   PMID:8397829   PMID:11339514   PMID:12477932   PMID:12734775   PMID:15489334   PMID:15772651   PMID:17505466   PMID:17957233   PMID:20377855  
PMID:20418777   PMID:20433639   PMID:20442744   PMID:21251267   PMID:21437622   PMID:21615493   PMID:21778461   PMID:21873635   PMID:22694957   PMID:22775292   PMID:23349736   PMID:23995775  
PMID:24308489   PMID:24722188   PMID:24881886   PMID:25059483   PMID:25833399   PMID:26154813   PMID:26279084   PMID:26510398   PMID:28625976   PMID:29794137   PMID:33586202   PMID:34184492  


Genomics

Comparative Map Data
ASMT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX1,615,059 - 1,643,081 (+)EnsemblGRCh38hg38GRCh38
GRCh38Y1,595,455 - 1,643,081 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X1,595,455 - 1,643,081 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X1,714,348 - 1,761,974 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37Y1,664,348 - 1,711,974 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y1,674,348 - 1,721,974 (+)NCBINCBI36hg18NCBI36
Build 36X1,674,348 - 1,721,974 (+)NCBINCBI36hg18NCBI36
Build 34Y1,758,174 - 1,805,801NCBI
CeleraX5,992,483 - 6,035,986 (+)NCBI
Cytogenetic MapX;YNCBI
CHM1_1X1,744,907 - 1,789,431 (+)NCBICHM1_1
Asmt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X169,106,379 - 169,111,787 (+)NCBIGRCm39mm39
GRCm39 EnsemblX169,106,356 - 169,111,844 (+)Ensembl
GRCm38X170,672,644 - 170,678,054 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX170,672,644 - 170,678,054 (+)EnsemblGRCm38mm10GRCm38
Cytogenetic MapXF5NCBI
Asmt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21216,304,719 - 16,309,568 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1216,304,719 - 16,309,568 (-)Ensembl
Rnor_6.01218,521,383 - 18,527,036 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1218,521,401 - 18,526,250 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01220,506,337 - 20,511,600 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41216,811,892 - 16,817,186 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11216,841,819 - 16,847,116 (-)NCBI
Celera1218,054,424 - 18,059,273 (-)NCBICelera
Cytogenetic Map12q11NCBI
Asmt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554991,131,588 - 1,152,802 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554991,131,637 - 1,151,861 (+)NCBIChiLan1.0ChiLan1.0
ASMT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X1,737,699 - 1,772,983 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX1,749,371 - 1,772,916 (+)Ensemblpanpan1.1panPan2
ASMT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X1,012,952 - 1,025,684 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX1,012,961 - 1,025,263 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX957,221 - 969,532 (+)NCBI
ROS_Cfam_1.0X927,859 - 940,066 (+)NCBI
UMICH_Zoey_3.1X919,275 - 931,589 (+)NCBI
UNSW_CanFamBas_1.0X936,207 - 948,529 (+)NCBI
UU_Cfam_GSD_1.0X972,568 - 984,887 (+)NCBI
Asmt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404953666,394 - 669,387 (+)NCBI
SpeTri2.0NW_0049366443,707,365 - 3,708,601 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC110258194
(Sus scrofa - pig)
No map positions available.
LOC103232876
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X1,838 - 12,924 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660561,759,444 - 1,802,665 (+)NCBIVero_WHO_p1.0
Asmt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624834747,233 - 757,071 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH69211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X1,720,639 - 1,720,774UniSTSGRCh37
GRCh37Y1,670,639 - 1,670,774UniSTSGRCh37
Build 36X1,680,639 - 1,680,774RGDNCBI36
CeleraX5,998,296 - 5,998,431RGD
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
SHGC-64829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X1,719,474 - 1,719,570UniSTSGRCh37
GRCh37Y1,669,474 - 1,669,570UniSTSGRCh37
Build 36X1,679,474 - 1,679,570RGDNCBI36
CeleraX5,997,131 - 5,997,227RGD
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
TNG Radiation Hybrid MapY230.0UniSTS
DXYS155E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X1,721,194 - 1,721,307UniSTSGRCh37
GRCh37Y1,671,194 - 1,671,307UniSTSGRCh37
Build 36X1,681,194 - 1,681,307RGDNCBI36
CeleraX5,998,851 - 5,998,964RGD
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
RH71197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y1,711,776 - 1,711,903UniSTSGRCh37
GRCh37X1,761,776 - 1,761,903UniSTSGRCh37
Build 36X1,721,776 - 1,721,903RGDNCBI36
CeleraX6,035,788 - 6,035,915RGD
Cytogenetic MapYp11.3UniSTS
Cytogenetic MapXp22.3UniSTS
GeneMap99-GB4 RH MapX17.45UniSTS
SHGC-5417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y1,670,890 - 1,671,084UniSTSGRCh37
GRCh37X1,720,890 - 1,721,084UniSTSGRCh37
Build 36X1,680,890 - 1,681,084RGDNCBI36
CeleraX5,998,547 - 5,998,741RGD
Cytogenetic MapYp11.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
TNG Radiation Hybrid MapY262.0UniSTS
Stanford-G3 RH MapY116.0UniSTS
CXYorf3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y1,662,917 - 1,663,087UniSTSGRCh37
GRCh37X1,712,917 - 1,713,087UniSTSGRCh37
CeleraX5,991,080 - 5,991,250UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:384
Count of miRNA genes:180
Interacting mature miRNAs:185
Transcripts:ENST00000381229, ENST00000381233, ENST00000381241, ENST00000432523
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 17 1
Low 578 593 780 31 644 10 1412 294 1065 27 590 561 21 266 890 3
Below cutoff 1754 2252 827 479 1154 349 2689 1632 2504 290 770 948 140 922 1701 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000381229   ⟹   ENSP00000370627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX1,615,164 - 1,643,027 (+)Ensembl
RefSeq Acc Id: ENST00000381233   ⟹   ENSP00000370631
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX1,615,175 - 1,643,081 (+)Ensembl
RefSeq Acc Id: ENST00000381241   ⟹   ENSP00000370639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX1,615,059 - 1,643,081 (+)Ensembl
RefSeq Acc Id: ENST00000432523   ⟹   ENSP00000392053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX1,636,398 - 1,643,081 (+)Ensembl
RefSeq Acc Id: ENST00000509780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX1,627,746 - 1,636,463 (+)Ensembl
RefSeq Acc Id: NM_001171038   ⟹   NP_001164509
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,615,059 - 1,643,081 (+)NCBI
GRCh38Y1,615,059 - 1,643,081 (+)NCBI
GRCh37X1,714,348 - 1,761,974 (+)ENTREZGENE
GRCh37Y1,664,348 - 1,711,974 (+)NCBI
CHM1_1X1,764,525 - 1,789,431 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001171039   ⟹   NP_001164510
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,615,133 - 1,643,081 (+)NCBI
GRCh38Y1,615,133 - 1,643,081 (+)NCBI
GRCh37X1,714,348 - 1,761,974 (+)ENTREZGENE
GRCh37Y1,664,348 - 1,711,974 (+)NCBI
CHM1_1X1,764,610 - 1,789,431 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004043   ⟹   NP_004034
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,595,455 - 1,643,081 (+)NCBI
GRCh38Y1,595,455 - 1,643,081 (+)NCBI
GRCh37Y1,664,348 - 1,711,974 (+)NCBI
GRCh37X1,714,348 - 1,761,974 (+)ENTREZGENE
Build 36Y1,674,348 - 1,721,974 (+)NCBI Archive
Build 36X1,674,348 - 1,721,974 (+)NCBI Archive
CHM1_1X1,744,907 - 1,789,431 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004034   ⟸   NM_004043
- Peptide Label: isoform 1
- UniProtKB: P46597 (UniProtKB/Swiss-Prot),   A0A024RBT9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164509   ⟸   NM_001171038
- Peptide Label: isoform 1
- UniProtKB: P46597 (UniProtKB/Swiss-Prot),   A0A024RBT9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001164510   ⟸   NM_001171039
- Peptide Label: isoform 2
- UniProtKB: P46597 (UniProtKB/Swiss-Prot),   X5D784 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000392053   ⟸   ENST00000432523
RefSeq Acc Id: ENSP00000370627   ⟸   ENST00000381229
RefSeq Acc Id: ENSP00000370631   ⟸   ENST00000381233
RefSeq Acc Id: ENSP00000370639   ⟸   ENST00000381241
Protein Domains
Dimerisation2   Methyltransf_2

Promoters
RGD ID:13604622
Promoter ID:EPDNEW_H28495
Type:initiation region
Name:ASMT_1
Description:acetylserotonin O-methyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28496  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,614,992 - 1,615,052EPDNEW
RGD ID:13604624
Promoter ID:EPDNEW_H28496
Type:initiation region
Name:ASMT_2
Description:acetylserotonin O-methyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28495  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X1,615,164 - 1,615,224EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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(chrX:26102-3730888)x3 copy number gain See cases [RCV000052323] ChrX:26102..3730888 [GRCh38]
ChrX:76102..3648929 [GRCh37]
ChrX:16102..3658929 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3 copy number gain See cases [RCV000052326] ChrX:40904..4469489 [GRCh38]
ChrX:90904..4387530 [GRCh37]
ChrX:30904..4397530 [NCBI36]
ChrX:Xp22.33-22.32
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0 copy number loss See cases [RCV000135637] ChrY:10679..13139461 [GRCh38]
ChrY:10679..15251375 [GRCh37]
ChrY:679..13760769 [NCBI36]
ChrY:Yp11.32-q11.221
pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762) copy number loss See cases [RCV000135689] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12
pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0 copy number loss See cases [RCV000135690] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33(chrX:1248646-2363996)x3 copy number gain See cases [RCV000134915] ChrX:1248646..2363996 [GRCh38]
ChrX:1367539..2282037 [GRCh37]
ChrX:1327539..2292037 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33(chrX:10679-3758140)x0 copy number loss See cases [RCV000135635] ChrX:10679..3758140 [GRCh38]
ChrX:60679..3676181 [GRCh37]
ChrX:679..3686181 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10001-6536888)x1 copy number loss See cases [RCV000135304] ChrX:10001..6536888 [GRCh38]
ChrX:17642..6454929 [GRCh37]
ChrX:1..6464929 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:1636755-1854368)x3 copy number gain See cases [RCV000134706] ChrX:1636755..1854368 [GRCh38]
ChrX:1755648..1973261 [GRCh37]
ChrX:1715648..1933261 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33(chrX:1636755-2597099)x3 copy number gain See cases [RCV000134714] ChrX:1636755..2597099 [GRCh38]
ChrX:1755648..2515140 [GRCh37]
ChrX:1715648..2525140 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0 copy number loss See cases [RCV000135329] ChrX:1202712..7928490 [GRCh38]
ChrX:1321581..7896531 [GRCh37]
ChrX:1281581..7856531 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-9459643)x1 copy number loss See cases [RCV000134136] ChrX:10679..9459643 [GRCh38]
ChrX:60679..9427683 [GRCh37]
ChrX:679..9387683 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.2(chrX:20140-10259836)x1 copy number loss See cases [RCV000052983] ChrX:20140..10259836 [GRCh38]
ChrX:70140..10227876 [GRCh37]
ChrX:10140..10187876 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-22.31(chrX:26102-8495903)x1 copy number loss See cases [RCV000052991] ChrX:26102..8495903 [GRCh38]
ChrX:76102..8463944 [GRCh37]
ChrX:16102..8423944 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:10679-1633117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053819]|See cases [RCV000053819] ChrX:10679..1633117 [GRCh38]
ChrX:60679..1752010 [GRCh37]
ChrX:679..1712010 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-7515914)x0 copy number loss See cases [RCV000052967] ChrX:10679..7515914 [GRCh38]
ChrX:60679..7433955 [GRCh37]
ChrX:679..7443955 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1 copy number loss See cases [RCV000052969] ChrX:10679..6495923 [GRCh38]
ChrX:60679..6413964 [GRCh37]
ChrX:679..6423964 [NCBI36]
ChrX:Xp22.33-22.31
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: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 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: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(chrX:1027415-1702424)x3 copy number gain See cases [RCV000139885] ChrX:1027415..1702424 [GRCh38]
ChrX:988150..1821317 [GRCh37]
ChrX:908150..1781317 [NCBI36]
ChrY:908150..1781317 [NCBI36]
ChrX:Xp22.33
ChrY:Yp11.32-11.31
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33(chrX:1501187-2274827)x3 copy number gain See cases [RCV000141253] ChrX:1501187..2274827 [GRCh38]
ChrX:1620080..2192868 [GRCh37]
ChrX:1580080..2202868 [NCBI36]
ChrX:Xp22.33
uncertain significance
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 Xp22.33-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(chrX:21267-2299223)x1 copy number loss See cases [RCV000141399] ChrX:21267..2299223 [GRCh38]
ChrX:71267..2217264 [GRCh37]
ChrX:11267..2227264 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1 copy number loss See cases [RCV000141411] ChrY:378139..57181562 [GRCh38]
ChrY:288874..59327713 [GRCh37]
ChrY:258874..57737101 [NCBI36]
ChrY:Yp11.31-q12
pathogenic
GRCh38/hg38 Yp11.2(chrY:1112351-1702424)x3 copy number gain See cases [RCV000141635] ChrY:1112351..1702424 [GRCh38]
ChrY:1162504..1771317 [GRCh37]
ChrY:1132504..1781317 [NCBI36]
ChrY:Yp11.2
uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1 copy number loss See cases [RCV000141660] ChrX:251879..6583978 [GRCh38]
ChrX:168546..6502019 [GRCh37]
ChrX:108546..6512019 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
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 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-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 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 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33(chrX:1629687-2467509)x3 copy number gain See cases [RCV000142130] ChrX:1629687..2467509 [GRCh38]
ChrX:1748580..2385550 [GRCh37]
ChrX:1708580..2395550 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33(chrX:1615504-2464503)x3 copy number gain See cases [RCV000142147] ChrX:1615504..2464503 [GRCh38]
ChrX:1734397..2382544 [GRCh37]
ChrX:1694397..2392544 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33(chrX:1063677-1838017)x3 copy number gain See cases [RCV000142246] ChrX:1063677..1838017 [GRCh38]
ChrX:1024412..1956910 [GRCh37]
ChrX:944412..1916910 [NCBI36]
ChrX:Xp22.33
uncertain significance
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 Xp22.33(chrX:1615503-2435294)x3 copy number gain See cases [RCV000142359] ChrX:1615503..2435294 [GRCh38]
ChrX:1734396..2353335 [GRCh37]
ChrX:1694396..2363335 [NCBI36]
ChrX:Xp22.33
uncertain significance
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: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:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-22.31(chrX:10701-8423970)x1 copy number loss See cases [RCV000143070] ChrX:10701..8423970 [GRCh38]
ChrX:60701..8392011 [GRCh37]
ChrX:701..8352011 [NCBI36]
ChrX:Xp22.33-22.31
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(chrX:1285856-1912497)x3 copy number gain See cases [RCV000143239] ChrX:1285856..1912497 [GRCh38]
ChrX:1404749..2031390 [GRCh37]
ChrX:1364749..1991390 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33(chrX:1063704-1598200)x3 copy number gain See cases [RCV000143296] ChrX:1063704..1598200 [GRCh38]
ChrX:1024439..1717093 [GRCh37]
ChrX:944439..1677093 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3 copy number gain See cases [RCV000143419] ChrY:301880..11680029 [GRCh38]
ChrY:168547..13800735 [GRCh37]
ChrY:158547..12310735 [NCBI36]
ChrY:Yp11.31-q11.21
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:1539767-9473964)x0 copy number loss See cases [RCV000143697] ChrX:1539767..9473964 [GRCh38]
ChrX:1658660..9442004 [GRCh37]
ChrX:1618660..9402004 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:1615504-2531194)x3 copy number gain See cases [RCV000143740] ChrX:1615504..2531194 [GRCh38]
ChrX:1734397..2449235 [GRCh37]
ChrX:1694397..2459235 [NCBI36]
ChrX:Xp22.33
uncertain significance
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 Xp22.33-22.31(chrX:10679-8480277)x1 copy number loss See cases [RCV000135756] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:936345-1838841)x3 copy number gain See cases [RCV000135932] ChrX:936345..1838841 [GRCh38]
ChrX:917876..1957734 [GRCh37]
ChrX:817080..1917734 [NCBI36]
ChrX:Xp22.33
pathogenic|likely benign
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3 copy number gain See cases [RCV000136091] ChrX:10701..8129470 [GRCh38]
ChrX:60701..8097511 [GRCh37]
ChrX:701..8057511 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8466385)x1 copy number loss See cases [RCV000136524] ChrX:10701..8466385 [GRCh38]
ChrX:60701..8434426 [GRCh37]
ChrX:701..8394426 [NCBI36]
ChrX:Xp22.33-22.31
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: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 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(chrX:10679-2777359)x1 copy number loss See cases [RCV000136867] ChrX:10679..2777359 [GRCh38]
ChrX:60679..2695400 [GRCh37]
ChrX:679..2705400 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0 copy number loss See cases [RCV000136885] ChrX:20140..9459643 [GRCh38]
ChrX:70140..9427683 [GRCh37]
ChrX:10140..9387683 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:1227766-1807393)x3 copy number gain See cases [RCV000136939] ChrX:1227766..1807393 [GRCh38]
ChrX:1346659..1926286 [GRCh37]
ChrX:1306659..1886286 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
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: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: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 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
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 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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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: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 Yp11.32-q11.222(chrY:10701-17951506)x0 copy number loss See cases [RCV000137555] ChrY:10701..17951506 [GRCh38]
ChrY:10701..20063386 [GRCh37]
ChrY:701..18572780 [NCBI36]
ChrY:Yp11.32-q11.222
pathogenic
GRCh38/hg38 Xp22.33(chrX:1000807-1702424)x3 copy number gain See cases [RCV000137680] ChrX:1000807..1702424 [GRCh38]
ChrX:961542..1821317 [GRCh37]
ChrX:881542..1781317 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1 copy number loss See cases [RCV000137882] ChrX:10701..8147112 [GRCh38]
ChrX:60701..8115153 [GRCh37]
ChrX:701..8075153 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0 copy number loss See cases [RCV000137883] ChrX:10701..8568401 [GRCh38]
ChrX:60701..8536442 [GRCh37]
ChrX:701..8496442 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
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: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:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33(chrX:1609575-2465371)x3 copy number gain See cases [RCV000139030] ChrX:1609575..2465371 [GRCh38]
ChrX:1728468..2383412 [GRCh37]
ChrX:1688468..2393412 [NCBI36]
ChrX:Xp22.33
uncertain significance
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 Yp11.2(chrY:1441666-1791189)x0 copy number loss See cases [RCV000139350] ChrY:1441666..1791189 [GRCh38]
ChrY:1510559..1860082 [GRCh37]
ChrY:1520559..1870082 [NCBI36]
ChrY:Yp11.2
likely benign
GRCh38/hg38 Xp22.33(chrX:1636755-1816481)x3 copy number gain See cases [RCV000139398] ChrX:1636755..1816481 [GRCh38]
ChrX:1755648..1935374 [GRCh37]
ChrX:1715648..1895374 [NCBI36]
ChrX:Xp22.33
likely benign
NM_001171038.2(ASMT):c.87C>A (p.Cys29Ter) single nucleotide variant not provided [RCV000262182] ChrY:1623156 [GRCh38]
ChrX:1623156 [GRCh38]
ChrX:1742049 [GRCh37]
ChrY:1692049 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2
uncertain significance
NM_001171038.2(ASMT):c.241A>G (p.Lys81Glu) single nucleotide variant not specified [RCV000736068] ChrX:1623310 [GRCh38]
ChrY:1623310 [GRCh38]
ChrY:1692203 [GRCh37]
ChrX:1742203 [GRCh37]
ChrX:Xp22.33
ChrY:Yp11.2
likely benign
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:750 AgrOrtholog
COSMIC ASMT COSMIC
Ensembl Genes ENSG00000196433 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370627 UniProtKB/Swiss-Prot
  ENSP00000370631 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370639 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392053 UniProtKB/TrEMBL
Ensembl Transcript ENST00000381229 UniProtKB/Swiss-Prot
  ENST00000381233 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381241 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000432523 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196433 GTEx
HGNC ID HGNC:750 ENTREZGENE
Human Proteome Map ASMT Human Proteome Map
InterPro ASMT_dimerisation UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  O-MeTrfase_COMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  O_MeTrfase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:438 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 438 ENTREZGENE
OMIM 300015 OMIM
  402500 OMIM
Pfam Dimerisation2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Methyltransf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25049 PharmGKB
PIRSF O-mtase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SAM_OMT_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBT9 ENTREZGENE, UniProtKB/TrEMBL
  ASMT_HUMAN UniProtKB/Swiss-Prot
  I7HFW6_HUMAN UniProtKB/TrEMBL
  P46597 ENTREZGENE
  X5D2A4_HUMAN UniProtKB/TrEMBL
  X5D311_HUMAN UniProtKB/TrEMBL
  X5D784 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2RC33 UniProtKB/Swiss-Prot
  Q16598 UniProtKB/Swiss-Prot
  Q5JQ72 UniProtKB/Swiss-Prot
  Q5JQ73 UniProtKB/Swiss-Prot