MMP11 (matrix metallopeptidase 11) - Rat Genome Database
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Gene: MMP11 (matrix metallopeptidase 11) Homo sapiens
Analyze
Symbol: MMP11
Name: matrix metallopeptidase 11
RGD ID: 735298
HGNC Page HGNC
Description: Predicted to have metallopeptidase activity. Predicted to be involved in collagen catabolic process and extracellular matrix disassembly. Localizes to extracellular matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: matrix metallopeptidase 11 (stromelysin 3); matrix metalloproteinase 11; matrix metalloproteinase 11 (stromelysin 3); matrix metalloproteinase-11; MMP-11; SL-3; ST3; STMY3; stromelysin 3; stromelysin III; stromelysin-3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2223,768,226 - 23,784,316 (+)EnsemblGRCh38hg38GRCh38
GRCh382223,772,849 - 23,784,316 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372224,115,036 - 24,126,503 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,445,036 - 22,456,503 (+)NCBINCBI36hg18NCBI36
Build 342222,439,589 - 22,451,056NCBI
Celera227,954,127 - 7,965,595 (+)NCBI
Cytogenetic Map22q11.23ENTREZGENE
HuRef227,103,103 - 7,114,555 (+)NCBIHuRef
CHM1_12224,127,245 - 24,138,742 (+)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

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1639418   PMID:1701851   PMID:7523394   PMID:7657606   PMID:7746327   PMID:10419448   PMID:11280785   PMID:11857311   PMID:12006591   PMID:12429794   PMID:12477932   PMID:12538453  
PMID:12845673   PMID:15231748   PMID:15459498   PMID:15489334   PMID:15509588   PMID:15582574   PMID:15788677   PMID:15989693   PMID:16303743   PMID:16344560   PMID:17085465   PMID:17091452  
PMID:17181997   PMID:17233884   PMID:17543340   PMID:17980449   PMID:18172255   PMID:18208802   PMID:18476627   PMID:18622425   PMID:19159011   PMID:19212658   PMID:19509157   PMID:19913121  
PMID:19914229   PMID:20060156   PMID:20160732   PMID:20230842   PMID:20452482   PMID:20587546   PMID:20628086   PMID:20673868   PMID:21048031   PMID:21442356   PMID:21513571   PMID:21773755  
PMID:21873635   PMID:22076168   PMID:22227581   PMID:22286800   PMID:22488635   PMID:22768249   PMID:22927434   PMID:23115007   PMID:23211491   PMID:23755751   PMID:24564996   PMID:24838924  
PMID:25081520   PMID:25423087   PMID:25987024   PMID:26084486   PMID:26507719   PMID:26861489   PMID:26892540   PMID:26956825   PMID:27002762   PMID:27081863   PMID:27364572   PMID:28409241  
PMID:28427180   PMID:28445974   PMID:28801789   PMID:29374701   PMID:29725257   PMID:30218127   PMID:30710321   PMID:30787663   PMID:31337950   PMID:31342542   PMID:31570432   PMID:31595150  
PMID:31704821   PMID:33228130  


Genomics

Comparative Map Data
MMP11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2223,768,226 - 23,784,316 (+)EnsemblGRCh38hg38GRCh38
GRCh382223,772,849 - 23,784,316 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372224,115,036 - 24,126,503 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,445,036 - 22,456,503 (+)NCBINCBI36hg18NCBI36
Build 342222,439,589 - 22,451,056NCBI
Celera227,954,127 - 7,965,595 (+)NCBI
Cytogenetic Map22q11.23ENTREZGENE
HuRef227,103,103 - 7,114,555 (+)NCBIHuRef
CHM1_12224,127,245 - 24,138,742 (+)NCBICHM1_1
Mmp11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391075,759,056 - 75,768,336 (-)NCBIGRCm39mm39
GRCm39 Ensembl1075,759,056 - 75,772,330 (-)Ensembl
GRCm381075,923,221 - 75,932,502 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1075,923,222 - 75,936,496 (-)EnsemblGRCm38mm10GRCm38
MGSCv371075,385,969 - 75,395,208 (-)NCBIGRCm37mm9NCBIm37
MGSCv361075,366,940 - 75,376,179 (-)NCBImm8
Celera1076,967,909 - 76,977,148 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1038.62NCBI
Mmp11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22012,730,846 - 12,739,629 (+)NCBI
Rnor_6.0 Ensembl2013,670,066 - 13,678,089 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02013,670,051 - 13,678,834 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02015,825,614 - 15,834,397 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42013,129,667 - 13,138,449 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12013,129,893 - 13,138,676 (+)NCBI
Celera2014,222,131 - 14,230,914 (+)NCBICelera
Cytogenetic Map20p12NCBI
Mmp11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554558,459,428 - 8,469,053 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554558,458,622 - 8,464,037 (-)NCBIChiLan1.0ChiLan1.0
MMP11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12222,610,626 - 22,625,335 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2222,615,969 - 22,624,567 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0224,528,639 - 4,540,118 (+)NCBIMhudiblu_PPA_v0panPan3
MMP11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2628,727,332 - 28,741,415 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12628,730,173 - 28,741,506 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Mmp11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366191,309,013 - 1,320,062 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MMP11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1449,907,694 - 49,917,469 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11449,907,684 - 49,917,494 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21453,349,978 - 53,359,794 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MMP11
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1196,889,343 - 6,900,563 (+)NCBI
ChlSab1.1 Ensembl196,889,385 - 6,899,788 (+)Ensembl
Mmp11
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474710,398,167 - 10,408,397 (-)NCBI

Position Markers
GDB:452641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,126,043 - 24,126,277UniSTSGRCh37
Build 362222,456,043 - 22,456,277RGDNCBI36
Celera227,965,136 - 7,965,370RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,114,096 - 7,114,330UniSTS
STS-AA027995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,124,434 - 24,124,567UniSTSGRCh37
Build 362222,454,434 - 22,454,567RGDNCBI36
Celera227,963,527 - 7,963,660RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,112,487 - 7,112,620UniSTS
GeneMap99-GB4 RH Map2247.84UniSTS
NCBI RH Map2263.6UniSTS
SHGC-7855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,126,212 - 24,126,413UniSTSGRCh37
Build 362222,456,212 - 22,456,413RGDNCBI36
Celera227,965,305 - 7,965,506RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,114,265 - 7,114,466UniSTS
Stanford-G3 RH Map22340.0UniSTS
NCBI RH Map2279.8UniSTS
GeneMap99-G3 RH Map22340.0UniSTS
MMP11_190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,125,868 - 24,126,535UniSTSGRCh37
Build 362222,455,868 - 22,456,535RGDNCBI36
Celera227,964,961 - 7,965,627RGD
HuRef227,113,921 - 7,114,587UniSTS
RH18115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,126,064 - 24,126,297UniSTSGRCh37
Build 362222,456,064 - 22,456,297RGDNCBI36
Celera227,965,157 - 7,965,390RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,114,117 - 7,114,350UniSTS
GeneMap99-GB4 RH Map2248.28UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR125Ahsa-miR-125a-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//qFunctional MTI22768249
MIR125Ahsa-miR-125a-5pOncomiRDBexternal_infoNANA22768249

Predicted Target Of
Summary Value
Count of predictions:4250
Count of miRNA genes:1100
Interacting mature miRNAs:1390
Transcripts:ENST00000215743, ENST00000428253, ENST00000434318, ENST00000437086, ENST00000460352, ENST00000465385, ENST00000465730, ENST00000477567, ENST00000480185, ENST00000488363, ENST00000489582, ENST00000492464, ENST00000493132
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 10
Medium 193 168 81 88 61 60 243 43 40 86 681 117 29 57 142 3
Low 2194 2208 1330 303 858 176 3650 1755 2104 302 742 1323 138 1 1127 2266 3 1
Below cutoff 48 599 308 229 945 226 462 393 1581 30 24 166 6 20 380

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000215743   ⟹   ENSP00000215743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,772,849 - 23,784,316 (+)Ensembl
RefSeq Acc Id: ENST00000428253   ⟹   ENSP00000409860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,772,846 - 23,780,484 (+)Ensembl
RefSeq Acc Id: ENST00000434318   ⟹   ENSP00000412107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,780,880 - 23,783,441 (+)Ensembl
RefSeq Acc Id: ENST00000437086   ⟹   ENSP00000408070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,772,849 - 23,784,316 (+)Ensembl
RefSeq Acc Id: ENST00000460352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,777,641 - 23,781,100 (+)Ensembl
RefSeq Acc Id: ENST00000465385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,768,226 - 23,784,316 (+)Ensembl
RefSeq Acc Id: ENST00000465730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,772,846 - 23,779,697 (+)Ensembl
RefSeq Acc Id: ENST00000477567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,768,643 - 23,781,007 (+)Ensembl
RefSeq Acc Id: ENST00000480185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,781,814 - 23,782,483 (+)Ensembl
RefSeq Acc Id: ENST00000488363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,781,264 - 23,782,628 (+)Ensembl
RefSeq Acc Id: ENST00000489582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,768,660 - 23,780,666 (+)Ensembl
RefSeq Acc Id: ENST00000492464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,780,957 - 23,781,751 (+)Ensembl
RefSeq Acc Id: ENST00000493132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,780,941 - 23,782,315 (+)Ensembl
RefSeq Acc Id: NM_005940   ⟹   NP_005931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,772,849 - 23,784,316 (+)NCBI
GRCh372224,115,036 - 24,126,503 (+)ENTREZGENE
Build 362222,445,036 - 22,456,503 (+)NCBI Archive
HuRef227,103,103 - 7,114,555 (+)ENTREZGENE
CHM1_12224,127,245 - 24,138,742 (+)NCBI
Sequence:
RefSeq Acc Id: NR_133013
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,772,849 - 23,784,316 (+)NCBI
CHM1_12224,127,245 - 24,138,742 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005931   ⟸   NM_005940
- Peptide Label: preproprotein
- UniProtKB: P24347 (UniProtKB/Swiss-Prot),   B3KQS8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000215743   ⟸   ENST00000215743
RefSeq Acc Id: ENSP00000409860   ⟸   ENST00000428253
RefSeq Acc Id: ENSP00000412107   ⟸   ENST00000434318
RefSeq Acc Id: ENSP00000408070   ⟸   ENST00000437086
Protein Domains
Peptidase_M10   ZnMc

Promoters
RGD ID:6799915
Promoter ID:HG_KWN:41960
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:ENST00000401675,   OTTHUMT00000319870,   OTTHUMT00000319893,   OTTHUMT00000319895,   OTTHUMT00000319896
Position:
Human AssemblyChrPosition (strand)Source
Build 362222,439,081 - 22,440,142 (-)MPROMDB
RGD ID:6800146
Promoter ID:HG_KWN:41961
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000319891,   OTTHUMT00000319892,   OTTHUMT00000319897,   OTTHUMT00000319898
Position:
Human AssemblyChrPosition (strand)Source
Build 362222,444,719 - 22,445,219 (+)MPROMDB
RGD ID:6850596
Promoter ID:EP73089
Type:single initiation site
Name:HS_MMP11
Description:Matrix metalloproteinase 11 (stromelysin 3).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362222,445,036 - 22,445,096EPD
RGD ID:6800147
Promoter ID:HG_KWN:41963
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000319894,   OTTHUMT00000319901,   OTTHUMT00000319902,   OTTHUMT00000319903,   UC002ZXZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362222,453,556 - 22,454,056 (+)MPROMDB
RGD ID:13603440
Promoter ID:EPDNEW_H27904
Type:initiation region
Name:MMP11_1
Description:matrix metallopeptidase 11
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
GRCh382223,772,849 - 23,772,909EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 22q11.23(chr22:23720171-25065576) copy number gain Cerebellar ataxia [RCV000626496] Chr22:23720171..25065576 [GRCh37]
Chr22:22q11.23
uncertain significance
NM_005940.3(MMP11):c.108+1551G>A single nucleotide variant Lung cancer [RCV000101984] Chr22:23774529 [GRCh38]
Chr22:24116716 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000050739] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3 copy number gain See cases [RCV000053174] Chr22:23338443..24610403 [GRCh38]
Chr22:23680630..25006370 [GRCh37]
Chr22:22010630..23336370 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] Chr22:21454661..24197852 [GRCh38]
Chr22:21808950..24593820 [GRCh37]
Chr22:20138950..22923820 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 copy number loss See cases [RCV000053087] Chr22:21457690..24220231 [GRCh38]
Chr22:21811979..24616199 [GRCh37]
Chr22:20141979..22946199 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3 copy number gain See cases [RCV000053175] Chr22:23338443..24577664 [GRCh38]
Chr22:23680630..24973632 [GRCh37]
Chr22:22010630..23303632 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3 copy number gain See cases [RCV000053176] Chr22:23354221..24541945 [GRCh38]
Chr22:23696408..24937913 [GRCh37]
Chr22:22026408..23267913 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3 copy number gain See cases [RCV000053177] Chr22:23369950..24669609 [GRCh38]
Chr22:23712137..25065576 [GRCh37]
Chr22:22042137..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23377784-24564000)x3 copy number gain See cases [RCV000053178] Chr22:23377784..24564000 [GRCh38]
Chr22:23719971..24959968 [GRCh37]
Chr22:22049971..23289968 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000053179] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 copy number loss See cases [RCV000053090] Chr22:21562911..24307688 [GRCh38]
Chr22:21917200..24703656 [GRCh37]
Chr22:20247200..23033656 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.23(chr22:23377984-24669609)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|See cases [RCV000053181] Chr22:23377984..24669609 [GRCh38]
Chr22:23720171..25065576 [GRCh37]
Chr22:22050171..23395576 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3 copy number gain See cases [RCV000053182] Chr22:23414627..24563859 [GRCh38]
Chr22:23756814..24959827 [GRCh37]
Chr22:22086814..23289827 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3 copy number gain See cases [RCV000053161] Chr22:22686122..24577664 [GRCh38]
Chr22:23028586..24973632 [GRCh37]
Chr22:21358586..23303632 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 copy number gain See cases [RCV000053163] Chr22:22703701..24669609 [GRCh38]
Chr22:23046186..25065576 [GRCh37]
Chr22:21376186..23395576 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3 copy number gain See cases [RCV000053164] Chr22:23285152..24723136 [GRCh38]
Chr22:23627339..25119103 [GRCh37]
Chr22:21957339..23449103 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 copy number loss See cases [RCV000053074] Chr22:21443815..24235645 [GRCh38]
Chr22:21798104..24631613 [GRCh37]
Chr22:20128104..22961613 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 copy number loss See cases [RCV000053077] Chr22:21454461..24247296 [GRCh38]
Chr22:21808750..24643264 [GRCh37]
Chr22:20138750..22973264 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] Chr22:21454661..24289119 [GRCh38]
Chr22:21808950..24685087 [GRCh37]
Chr22:20138950..23015087 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
NM_005940.3(MMP11):c.209G>T (p.Arg70Leu) single nucleotide variant Malignant melanoma [RCV000063874] Chr22:23779287 [GRCh38]
Chr22:24121474 [GRCh37]
Chr22:22451474 [NCBI36]
Chr22:22q11.23
not provided
NM_005940.3(MMP11):c.210G>A (p.Arg70=) single nucleotide variant Malignant melanoma [RCV000063875] Chr22:23779288 [GRCh38]
Chr22:24121475 [GRCh37]
Chr22:22451475 [NCBI36]
Chr22:22q11.23
not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3 copy number gain See cases [RCV000136060] Chr22:22669599..24670517 [GRCh38]
Chr22:23012069..25066484 [GRCh37]
Chr22:21342069..23396484 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 copy number loss See cases [RCV000137685] Chr22:21454661..24247140 [GRCh38]
Chr22:21808950..24643108 [GRCh37]
Chr22:20138950..22973108 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3 copy number gain See cases [RCV000137701] Chr22:23311976..24644628 [GRCh38]
Chr22:23654163..25040595 [GRCh37]
Chr22:21984163..23370595 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 copy number gain See cases [RCV000137410] Chr22:22660239..24644628 [GRCh38]
Chr22:23002709..25040595 [GRCh37]
Chr22:21332709..23370595 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3
pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3 copy number gain See cases [RCV000137995] Chr22:23311976..24600238 [GRCh38]
Chr22:23654163..24996205 [GRCh37]
Chr22:21984163..23326205 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3 copy number gain See cases [RCV000137795] Chr22:22660239..24600238 [GRCh38]
Chr22:23002709..24996205 [GRCh37]
Chr22:21332709..23326205 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3 copy number gain See cases [RCV000138249] Chr22:22660239..24596054 [GRCh38]
Chr22:23002709..24992021 [GRCh37]
Chr22:21332709..23322021 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3 copy number gain See cases [RCV000139440] Chr22:23311976..24669609 [GRCh38]
Chr22:23654163..25065576 [GRCh37]
Chr22:21984163..23395576 [NCBI36]
Chr22:22q11.23
likely benign|uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 copy number gain See cases [RCV000141936] Chr22:22655333..24663664 [GRCh38]
Chr22:22997803..25059631 [GRCh37]
Chr22:21327803..23389631 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3 copy number gain See cases [RCV000141802] Chr22:23308686..24647020 [GRCh38]
Chr22:23650873..25042987 [GRCh37]
Chr22:21980873..23372987 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 copy number gain See cases [RCV000142221] Chr22:22655333..24630890 [GRCh38]
Chr22:22997803..25026857 [GRCh37]
Chr22:21327803..23356857 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 copy number gain See cases [RCV000143750] Chr22:22655333..24647020 [GRCh38]
Chr22:22997803..25042987 [GRCh37]
Chr22:21327803..23372987 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000148079] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3 copy number gain See cases [RCV000143627] Chr22:23348201..24647020 [GRCh38]
Chr22:23690388..25042987 [GRCh37]
Chr22:22020388..23372987 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3 copy number gain See cases [RCV000143543] Chr22:22920775..24606692 [GRCh38]
Chr22:23262947..25002659 [GRCh37]
Chr22:21592947..23332659 [NCBI36]
Chr22:22q11.22-11.23
uncertain significance
GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3 copy number gain See cases [RCV000143562] Chr22:23310399..24643051 [GRCh38]
Chr22:23652586..25039018 [GRCh37]
Chr22:21982586..23369018 [NCBI36]
Chr22:22q11.23
likely benign|uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000148169] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3 copy number gain See cases [RCV000203419] Chr22:23891773..24991691 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3 copy number gain See cases [RCV000239808] Chr22:23258229..25046803 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1
benign
GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3 copy number gain See cases [RCV000239999] Chr22:22976696..25053311 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23(chr22:23950632-24276233)x4 copy number gain See cases [RCV000240514] Chr22:23950632..24276233 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22988879-24276233)x3 copy number gain See cases [RCV000240234] Chr22:22988879..24276233 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258938-25002659)x3 copy number gain See cases [RCV000446585] Chr22:23258938..25002659 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25002659)x3 copy number gain See cases [RCV000445706] Chr22:22997802..25002659 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3 copy number gain See cases [RCV000445819] Chr22:23258229..25046758 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 copy number gain See cases [RCV000445928] Chr22:21804562..24659578 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25042987)x3 copy number gain See cases [RCV000448006] Chr22:23652517..25042987 [GRCh37]
Chr22:22q11.23
uncertain significance
NC_000022.10:g.(?_23667751)_(25041986_?)dup duplication Schizophrenia [RCV000416698] Chr22:23667751..25041986 [GRCh37]
Chr22:21997751..23371986 [NCBI36]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_22971580)_(25041986_?)dup duplication Schizophrenia [RCV000416783] Chr22:22971580..25041986 [GRCh37]
Chr22:21301580..23371986 [NCBI36]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.23(chr22:23739611-24544632)x4 copy number gain See cases [RCV000448428] Chr22:23739611..24544632 [GRCh37]
Chr22:22q11.23
pathogenic
NC_000022.10:g.(?_23667751)_(24991609_?)dup duplication Schizophrenia [RCV000416915] Chr22:23667751..24991609 [GRCh37]
Chr22:21997751..23321609 [NCBI36]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25039018)x3 copy number gain See cases [RCV000511883] Chr22:23690387..25039018 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 copy number gain See cases [RCV000511378] Chr22:22997802..25033630 [GRCh37]
Chr22:22q11.22-11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3 copy number gain See cases [RCV000511837] Chr22:23690387..25066472 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1 copy number loss See cases [RCV000511065] Chr22:23690387..24666092 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3
pathogenic
GRCh37/hg19 22q11.23(chr22:23653979-25066472)x3 copy number gain See cases [RCV000512168] Chr22:23653979..25066472 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23(chr22:23652549-25042987)x3 copy number gain See cases [RCV000512454] Chr22:23652549..25042987 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3 copy number gain not provided [RCV000684506] Chr22:22951048..25156289 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 copy number loss not provided [RCV000684518] Chr22:21465661..24653491 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 copy number loss not provided [RCV000684520] Chr22:21465661..24885806 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3
pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3 copy number gain not provided [RCV000684494] Chr22:23650871..25002659 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 copy number gain not provided [RCV000684504] Chr22:22945889..25059631 [GRCh37]
Chr22:22q11.22-11.23
pathogenic|likely pathogenic
Single allele duplication Schizophrenia [RCV000754256] Chr22:22624794..24654160 [GRCh38]
Chr22:22q11.22-11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754258] Chr22:23317839..24597843 [GRCh38]
Chr22:22q11.23
likely pathogenic
Single allele duplication Schizophrenia [RCV000754259] Chr22:23317839..24654160 [GRCh38]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_005940.5(MMP11):c.1134C>A (p.Thr378=) single nucleotide variant not provided [RCV000881949] Chr22:23782284 [GRCh38]
Chr22:24124471 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.23(chr22:23653987-25158391) copy number gain not provided [RCV000767635] Chr22:23653987..25158391 [GRCh37]
Chr22:22q11.23
likely pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3 copy number gain 22q11.2 distal duplication syndrome [RCV000788073] Chr22:23652517..25002659 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 copy number gain Global developmental delay [RCV000787284] Chr22:22998284..25119103 [GRCh37]
Chr22:22q11.22-11.23
likely pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV001007176] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 copy number gain not provided [RCV000846628] Chr22:22962195..25002659 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 copy number gain not provided [RCV000845609] Chr22:22962196..25145601 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3 copy number gain not provided [RCV000849234] Chr22:23650200..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3 copy number gain not provided [RCV000849671] Chr22:23698818..25042987 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 copy number gain not provided [RCV000847639] Chr22:22962196..25059631 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV000845636] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_005940.5(MMP11):c.756C>T (p.Gly252=) single nucleotide variant not provided [RCV000920385] Chr22:23780998 [GRCh38]
Chr22:24123185 [GRCh37]
Chr22:22q11.23
benign
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3 copy number gain not provided [RCV001007174] Chr22:22953514..25002483 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3 copy number gain not provided [RCV001258774] Chr22:23258368..25059827 [GRCh37]
Chr22:22q11.22-11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3 copy number gain not provided [RCV001258776] Chr22:23650873..25043046 [GRCh37]
Chr22:22q11.23
pathogenic
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3 copy number gain See cases [RCV001263027] Chr22:23720181..25066484 [GRCh37]
Chr22:22q11.23
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7157 AgrOrtholog
COSMIC MMP11 COSMIC
Ensembl Genes ENSG00000099953 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000275365 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000215743 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000408070 UniProtKB/TrEMBL
  ENSP00000409860 UniProtKB/TrEMBL
  ENSP00000412107 UniProtKB/TrEMBL
  ENSP00000483349 UniProtKB/Swiss-Prot
  ENSP00000486195 UniProtKB/TrEMBL
  ENSP00000486551 UniProtKB/TrEMBL
Ensembl Transcript ENST00000215743 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000428253 UniProtKB/TrEMBL
  ENST00000434318 UniProtKB/TrEMBL
  ENST00000437086 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000612388 UniProtKB/Swiss-Prot
  ENST00000627283 UniProtKB/TrEMBL
  ENST00000629514 UniProtKB/TrEMBL
Gene3D-CATH 2.110.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000099953 GTEx
  ENSG00000275365 GTEx
HGNC ID HGNC:7157 ENTREZGENE
Human Proteome Map MMP11 Human Proteome Map
InterPro Hemopexin-like_dom UniProtKB/Swiss-Prot
  Hemopexin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hemopexin-like_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hemopexin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M10A_MMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M10_metallopeptidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M10A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M10A_Zn_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_Metallo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Stromelysin-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4320 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4320 ENTREZGENE
OMIM 185261 OMIM
PANTHER PTHR10201:SF20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hemopexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30869 PharmGKB
PIRSF Peptidase_M10A_matrix UniProtKB/Swiss-Prot
PRINTS MATRIXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYSTEINE_SWITCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMOPEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMOPEXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_PROTEASE UniProtKB/Swiss-Prot
SMART SM00120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnMc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5GZ71_HUMAN UniProtKB/TrEMBL
  B3KQS8 ENTREZGENE, UniProtKB/TrEMBL
  E9PED7_HUMAN UniProtKB/TrEMBL
  F8WDI7_HUMAN UniProtKB/TrEMBL
  H7C3I7_HUMAN UniProtKB/TrEMBL
  MMP11_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5FX24 UniProtKB/Swiss-Prot
  Q6PEZ6 UniProtKB/Swiss-Prot
  Q9UC26 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-03-03 MMP11  matrix metallopeptidase 11  MMP11  matrix metallopeptidase 11 (stromelysin 3)  Symbol and/or name change 5135510 APPROVED