PMM1 (phosphomannomutase 1) - Rat Genome Database

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Gene: PMM1 (phosphomannomutase 1) Homo sapiens
Analyze
Symbol: PMM1
Name: phosphomannomutase 1
RGD ID: 1322064
HGNC Page HGNC
Description: Enables phosphomannomutase activity. Involved in mannose metabolic process. Located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: brain glucose-1,6-bisphosphatase; PMM 1; PMMH-22; Sec53
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 Ensembl2241,576,900 - 41,589,871 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,576,895 - 41,589,866 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,972,904 - 41,985,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,302,858 - 40,315,759 (-)NCBINCBI36hg18NCBI36
Build 342240,297,411 - 40,310,313NCBI
Celera2225,779,317 - 25,792,298 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2224,938,706 - 24,951,582 (-)NCBIHuRef
CHM1_12241,933,029 - 41,946,009 (-)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
cytoplasm  (ISO)
cytosol  (IBA,IDA,TAS)
neuronal cell body  (IEA)

Molecular Function

References

Additional References at PubMed
PMID:9070917   PMID:9119384   PMID:9271215   PMID:9376685   PMID:9603909   PMID:10085245   PMID:10591208   PMID:12477932   PMID:12789572   PMID:14702039   PMID:15461802   PMID:15489334  
PMID:16189514   PMID:16540464   PMID:17054774   PMID:17186415   PMID:18591914   PMID:18854154   PMID:18927083   PMID:21078624   PMID:21873635   PMID:21988832   PMID:25416956   PMID:26186194  
PMID:26496610   PMID:28514442   PMID:29261720   PMID:29513927   PMID:29695157   PMID:32296183  


Genomics

Comparative Map Data
PMM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,576,900 - 41,589,871 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,576,895 - 41,589,866 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,972,904 - 41,985,844 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,302,858 - 40,315,759 (-)NCBINCBI36hg18NCBI36
Build 342240,297,411 - 40,310,313NCBI
Celera2225,779,317 - 25,792,298 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2224,938,706 - 24,951,582 (-)NCBIHuRef
CHM1_12241,933,029 - 41,946,009 (-)NCBICHM1_1
Pmm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391581,835,307 - 81,845,131 (-)NCBIGRCm39mm39
GRCm39 Ensembl1581,835,309 - 81,845,131 (-)Ensembl
GRCm381581,951,106 - 81,960,930 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1581,951,108 - 81,960,930 (-)EnsemblGRCm38mm10GRCm38
MGSCv371581,781,536 - 81,791,297 (-)NCBIGRCm37mm9NCBIm37
MGSCv361581,778,367 - 81,788,119 (-)NCBImm8
Celera1584,073,154 - 84,082,920 (-)NCBICelera
Cytogenetic Map15E1NCBI
Pmm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,466,632 - 113,477,004 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,466,632 - 113,477,022 (-)Ensembl
Rnor_6.07123,183,504 - 123,193,874 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,183,506 - 123,193,761 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,158,885 - 123,169,142 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,323,808 - 120,334,065 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17120,358,039 - 120,368,295 (-)NCBI
Celera7109,782,496 - 109,792,754 (-)NCBICelera
Cytogenetic Map7q34NCBI
Pmm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541327,090,291 - 27,097,088 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541327,090,291 - 27,097,088 (-)NCBIChiLan1.0ChiLan1.0
PMM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12240,558,733 - 40,571,811 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2240,558,733 - 40,571,811 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02222,472,067 - 22,485,029 (-)NCBIMhudiblu_PPA_v0panPan3
PMM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,699,476 - 23,706,716 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,700,387 - 23,706,547 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,629,920 - 23,639,439 (+)NCBI
ROS_Cfam_1.01024,442,035 - 24,451,570 (+)NCBI
UMICH_Zoey_3.11024,158,621 - 24,168,390 (+)NCBI
UNSW_CanFamBas_1.01024,480,091 - 24,489,609 (+)NCBI
UU_Cfam_GSD_1.01024,654,164 - 24,663,696 (+)NCBI
Pmm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049457,347,295 - 7,357,622 (+)NCBI
SpeTri2.0NW_004936492357,732 - 368,042 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PMM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,964,999 - 6,975,904 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,964,999 - 6,975,904 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.254,336,774 - 4,347,697 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PMM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,115,717 - 24,128,869 (-)NCBI
ChlSab1.1 Ensembl1924,118,481 - 24,128,830 (-)Ensembl
Vero_WHO_p1.0NW_023666045101,285,073 - 101,296,826 (+)NCBI
Pmm1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247527,039,781 - 7,047,069 (+)NCBI

Position Markers
STS-F10883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,972,496 - 41,972,669UniSTSGRCh37
Build 362240,302,442 - 40,302,615RGDNCBI36
Celera2225,778,923 - 25,779,096RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,938,312 - 24,938,485UniSTS
GeneMap99-GB4 RH Map22127.53UniSTS
WI-19569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,972,906 - 41,973,190UniSTSGRCh37
Build 362240,302,852 - 40,303,136RGDNCBI36
Celera2225,779,333 - 25,779,617RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,938,722 - 24,939,006UniSTS
GeneMap99-GB4 RH Map22127.47UniSTS
Whitehead-RH Map22153.2UniSTS
NCBI RH Map22192.0UniSTS
RH47292  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,972,993 - 41,973,120UniSTSGRCh37
Build 362240,302,939 - 40,303,066RGDNCBI36
Celera2225,779,420 - 25,779,547RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,938,809 - 24,938,936UniSTS
GeneMap99-GB4 RH Map22126.64UniSTS
NCBI RH Map22195.1UniSTS
A005T18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,972,494 - 41,972,666UniSTSGRCh37
Build 362240,302,440 - 40,302,612RGDNCBI36
Celera2225,778,921 - 25,779,093RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,938,310 - 24,938,482UniSTS
GeneMap99-GB4 RH Map22126.64UniSTS
NCBI RH Map22195.1UniSTS
STS-U86070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,973,031 - 41,973,277UniSTSGRCh37
Build 362240,302,977 - 40,303,223RGDNCBI36
Celera2225,779,458 - 25,779,704RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,938,847 - 24,939,093UniSTS
GeneMap99-GB4 RH Map22138.76UniSTS
NCBI RH Map22191.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2088
Count of miRNA genes:734
Interacting mature miRNAs:857
Transcripts:ENST00000216259, ENST00000414636, ENST00000463617, ENST00000466645, ENST00000472620, ENST00000478337, ENST00000482178, ENST00000485648, ENST00000493389
Prediction methods:Microtar, 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 2360 2531 1643 566 1517 408 3695 1538 3674 380 1389 1530 174 1 1204 2312 4 2
Low 79 460 83 58 434 57 662 659 60 39 71 83 1 476 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK094811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U86070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000216259   ⟹   ENSP00000216259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,576,900 - 41,589,840 (-)Ensembl
RefSeq Acc Id: ENST00000414636   ⟹   ENSP00000400889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,584,020 - 41,589,847 (-)Ensembl
RefSeq Acc Id: ENST00000463617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,576,903 - 41,580,689 (-)Ensembl
RefSeq Acc Id: ENST00000466645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,583,983 - 41,589,796 (-)Ensembl
RefSeq Acc Id: ENST00000472620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,576,931 - 41,589,871 (-)Ensembl
RefSeq Acc Id: ENST00000478337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,584,006 - 41,589,825 (-)Ensembl
RefSeq Acc Id: ENST00000482178
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,576,903 - 41,585,402 (-)Ensembl
RefSeq Acc Id: ENST00000485648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,576,937 - 41,589,818 (-)Ensembl
RefSeq Acc Id: ENST00000493389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,586,106 - 41,589,829 (-)Ensembl
RefSeq Acc Id: NM_002676   ⟹   NP_002667
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,576,900 - 41,589,840 (-)NCBI
GRCh372241,972,890 - 41,985,871 (-)ENTREZGENE
Build 362240,302,858 - 40,315,759 (-)NCBI Archive
HuRef2224,938,706 - 24,951,582 (-)ENTREZGENE
CHM1_12241,933,029 - 41,946,009 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261638   ⟹   XP_005261695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,576,897 - 41,589,840 (-)NCBI
GRCh372241,972,890 - 41,985,871 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530229   ⟹   XP_011528531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,576,895 - 41,589,856 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530230   ⟹   XP_011528532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,576,897 - 41,589,815 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530231   ⟹   XP_011528533
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,576,895 - 41,589,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530232   ⟹   XP_011528534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,576,895 - 41,589,163 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452251   ⟹   XP_024308019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,576,897 - 41,589,866 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002667   ⟸   NM_002676
- UniProtKB: Q92871 (UniProtKB/Swiss-Prot),   A0A024R1U5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005261695   ⟸   XM_005261638
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011528531   ⟸   XM_011530229
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011528533   ⟸   XM_011530231
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011528532   ⟸   XM_011530230
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011528534   ⟸   XM_011530232
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024308019   ⟸   XM_024452251
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000216259   ⟸   ENST00000216259
RefSeq Acc Id: ENSP00000400889   ⟸   ENST00000414636

Promoters
RGD ID:6800245
Promoter ID:HG_KWN:42995
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:OTTHUMT00000320711,   OTTHUMT00000320712,   OTTHUMT00000320713,   OTTHUMT00000321674,   OTTHUMT00000321675,   OTTHUMT00000321676,   OTTHUMT00000321677
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,315,641 - 40,316,392 (-)MPROMDB
RGD ID:6812210
Promoter ID:HG_ACW:52226
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:PMM1.LAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,320,381 - 40,320,881 (-)MPROMDB
RGD ID:13604266
Promoter ID:EPDNEW_H28318
Type:initiation region
Name:PMM1_1
Description:phosphomannomutase 1
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
GRCh382241,589,828 - 41,589,888EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
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 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
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 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
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 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
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 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
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
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41871935-42026428)x1 copy number loss not provided [RCV001007503] Chr22:41871935..42026428 [GRCh37]
Chr22:22q13.2
uncertain significance
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
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1 copy number loss not provided [RCV001258783] Chr22:41853620..42385978 [GRCh37]
Chr22:22q13.2
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
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9114 AgrOrtholog
COSMIC PMM1 COSMIC
Ensembl Genes ENSG00000100417 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000216259 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400889 UniProtKB/TrEMBL
Ensembl Transcript ENST00000216259 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414636 UniProtKB/TrEMBL
  ENST00000472620 ENTREZGENE
Gene3D-CATH 3.30.1240.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100417 GTEx
HGNC ID HGNC:9114 ENTREZGENE
Human Proteome Map PMM1 Human Proteome Map
InterPro HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-SF_hydro_IIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PMM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PMM_cap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5372 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5372 ENTREZGENE
OMIM 601786 OMIM
PANTHER PTHR10466 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PMM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33440 PharmGKB
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs HAD-SF-IIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R1U5 ENTREZGENE, UniProtKB/TrEMBL
  F8WFD5_HUMAN UniProtKB/TrEMBL
  PMM1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K003 UniProtKB/Swiss-Prot
  Q92586 UniProtKB/Swiss-Prot