MCM3AP (minichromosome maintenance complex component 3 associated protein) - Rat Genome Database
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Gene: MCM3AP (minichromosome maintenance complex component 3 associated protein) Homo sapiens
Analyze
Symbol: MCM3AP
Name: minichromosome maintenance complex component 3 associated protein
RGD ID: 1315674
Description: Exhibits H3 histone acetyltransferase activity; chromatin binding activity; and histone binding activity. Involved in nucleosome organization; poly(A)+ mRNA export from nucleus; and somatic hypermutation of immunoglobulin genes. Localizes to cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 80 kDa MCM3-associated protein; FLJ44336; FLJ45306; GANP; germinal center-associated nuclear protein; germinal-center associated nuclear protein; germinal-centre associated nuclear protein; KIAA0572; MAP80; MCM3 acetylating protein; MCM3 acetyltransferase; MCM3 import protein; mcm3 minichromosome maintenance deficient 3 (s. cerevisiae) associated protein; MCM3 minichromosome maintenance deficient 3 associated protein; minichromosome maintenance deficient 3-associated protein; PNRIID; SAC3
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,235,133 - 46,286,297 (-)EnsemblGRCh38hg38GRCh38
GRCh382146,235,130 - 46,286,297 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,655,047 - 47,706,211 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,479,476 - 46,529,664 (-)NCBINCBI36hg18NCBI36
Build 342146,479,475 - 46,529,664NCBI
Celera2132,767,449 - 32,817,670 (-)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2133,037,280 - 33,088,397 (-)NCBIHuRef
CHM1_12147,215,873 - 47,266,253 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9628581   PMID:9712829   PMID:10733502   PMID:10830953   PMID:11024281   PMID:11258703   PMID:11526238   PMID:11641399   PMID:12167160   PMID:12226073   PMID:12421765   PMID:12477932  
PMID:12885157   PMID:14702039   PMID:15231748   PMID:15489334   PMID:16169070   PMID:16780588   PMID:16914116   PMID:18276110   PMID:18976975   PMID:19578742   PMID:19686285   PMID:20005110  
PMID:20301532   PMID:20384790   PMID:20507984   PMID:20714864   PMID:20811636   PMID:20936779   PMID:21195085   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22395445   PMID:22412018  
PMID:22586326   PMID:22942428   PMID:23094019   PMID:23591820   PMID:23652018   PMID:23666240   PMID:24123876   PMID:24198285   PMID:24927568   PMID:25693804   PMID:26186194   PMID:26496610  
PMID:26615982   PMID:26673895   PMID:26749495   PMID:28514442   PMID:28633435   PMID:29467282   PMID:29507755   PMID:29676528   PMID:30021884   PMID:30033366   PMID:30782188   PMID:30810967  
PMID:31091453   PMID:31240132   PMID:31241196  


Genomics

Comparative Map Data
MCM3AP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2146,235,133 - 46,286,297 (-)EnsemblGRCh38hg38GRCh38
GRCh382146,235,130 - 46,286,297 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,655,047 - 47,706,211 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,479,476 - 46,529,664 (-)NCBINCBI36hg18NCBI36
Build 342146,479,475 - 46,529,664NCBI
Celera2132,767,449 - 32,817,670 (-)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2133,037,280 - 33,088,397 (-)NCBIHuRef
CHM1_12147,215,873 - 47,266,253 (-)NCBICHM1_1
Mcm3ap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,304,736 - 76,351,693 (+)NCBI
GRCm381076,468,902 - 76,515,859 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,468,927 - 76,515,857 (+)EnsemblGRCm38mm10GRCm38
MGSCv371075,931,716 - 75,978,602 (+)NCBIGRCm37mm9NCBIm37
MGSCv361075,912,654 - 75,959,575 (+)NCBImm8
Celera1077,513,360 - 77,560,247 (+)NCBICelera
Cytogenetic Map10C1NCBI
Mcm3ap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02012,879,304 - 12,917,069 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2012,879,278 - 12,917,039 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02015,036,956 - 15,075,033 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42012,543,442 - 12,580,796 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12012,543,800 - 12,581,101 (-)NCBI
Celera2013,625,646 - 13,663,007 (-)NCBICelera
Cytogenetic Map20p12NCBI
Mcm3ap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,657,588 - 42,705,315 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,657,422 - 42,706,339 (-)NCBIChiLan1.0ChiLan1.0
MCM3AP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12145,828,365 - 45,878,100 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,828,554 - 45,878,100 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02132,577,539 - 32,629,060 (-)NCBI
MCM3AP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3139,507,729 - 39,561,674 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13139,507,714 - 39,559,855 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Mcm3ap
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936778273,152 - 318,157 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCM3AP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.213218,446,950 - 218,493,396 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MCM3AP
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl289,852,447 - 89,890,054 (-)Ensembl
ChlSab1.1289,852,450 - 89,900,002 (-)NCBI
Mcm3ap
(Heterocephalus glaber - naked mole-rat)
No map positions available.

Position Markers
SHGC-87728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,705,498 - 47,705,596UniSTSGRCh37
Build 362146,529,926 - 46,530,024RGDNCBI36
Celera2132,817,932 - 32,818,030RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,088,659 - 33,088,758UniSTS
TNG Radiation Hybrid Map2119964.0UniSTS
GeneMap99-GB4 RH Map21256.28UniSTS
NCBI RH Map21407.7UniSTS
G13218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,680,368 - 47,680,517UniSTSGRCh37
Build 362146,504,796 - 46,504,945RGDNCBI36
Celera2132,792,801 - 32,792,950RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,063,525 - 33,063,674UniSTS
STS-N58265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,665,932 - 47,666,165UniSTSGRCh37
Build 362146,490,360 - 46,490,593RGDNCBI36
Celera2132,778,334 - 32,778,567RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,049,057 - 33,049,290UniSTS
TNG Radiation Hybrid Map2119940.0UniSTS
GeneMap99-GB4 RH Map21254.42UniSTS
NCBI RH Map21407.7UniSTS
SHGC-87721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,662,619 - 47,662,772UniSTSGRCh37
Build 362146,487,047 - 46,487,200RGDNCBI36
Celera2132,775,021 - 32,775,174RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,045,744 - 33,045,897UniSTS
TNG Radiation Hybrid Map2119940.0UniSTS
GeneMap99-GB4 RH Map21252.19UniSTS
NCBI RH Map21407.7UniSTS
SHGC-51870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,655,182 - 47,655,309UniSTSGRCh37
Build 362146,479,610 - 46,479,737RGDNCBI36
Celera2132,767,583 - 32,767,710RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,037,414 - 33,037,541UniSTS
TNG Radiation Hybrid Map2119935.0UniSTS
D21S2038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,655,182 - 47,655,312UniSTSGRCh37
Build 362146,479,610 - 46,479,740RGDNCBI36
Celera2132,767,583 - 32,767,713RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,037,414 - 33,037,544UniSTS
SHGC-52108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,705,406 - 47,705,627UniSTSGRCh37
Build 362146,529,834 - 46,530,055RGDNCBI36
Celera2132,817,840 - 32,818,061RGD
Cytogenetic Map21q22.3UniSTS
HuRef2133,088,567 - 33,088,789UniSTS
TNG Radiation Hybrid Map2119945.0UniSTS
GDB:313261  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map4q12UniSTS
L17971  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map20p11.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map9q34.13UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1704
Count of miRNA genes:754
Interacting mature miRNAs:884
Transcripts:ENST00000291688, ENST00000397708, ENST00000426537, ENST00000467026, ENST00000479557, ENST00000481113, ENST00000486937, ENST00000494755, ENST00000495475, ENST00000496607
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 2411 2320 1487 402 1556 244 4346 1991 2894 315 1423 1598 171 1204 2779 4
Low 28 671 239 222 395 221 10 206 839 104 37 15 4 1 9 2 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA659734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB005543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB011144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY590469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000291688   ⟹   ENSP00000291688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,235,133 - 46,285,611 (-)Ensembl
RefSeq Acc Id: ENST00000397708   ⟹   ENSP00000380820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,235,133 - 46,286,297 (-)Ensembl
RefSeq Acc Id: ENST00000426537   ⟹   ENSP00000408934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,285,005 - 46,286,184 (-)Ensembl
RefSeq Acc Id: ENST00000467026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,235,133 - 46,259,265 (-)Ensembl
RefSeq Acc Id: ENST00000479557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,270,263 - 46,272,623 (-)Ensembl
RefSeq Acc Id: ENST00000481113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,251,515 - 46,256,986 (-)Ensembl
RefSeq Acc Id: ENST00000486937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,235,133 - 46,268,062 (-)Ensembl
RefSeq Acc Id: ENST00000494755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,256,476 - 46,259,096 (-)Ensembl
RefSeq Acc Id: ENST00000495475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,285,291 - 46,285,897 (-)Ensembl
RefSeq Acc Id: ENST00000496607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,235,133 - 46,266,952 (-)Ensembl
RefSeq Acc Id: NM_003906   ⟹   NP_003897
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,235,133 - 46,285,611 (-)NCBI
GRCh372147,655,047 - 47,706,211 (-)NCBI
Build 362146,479,476 - 46,529,664 (-)NCBI Archive
HuRef2133,037,271 - 33,088,469 (-)NCBI
CHM1_12147,215,873 - 47,266,253 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261203   ⟹   XP_005261260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,235,130 - 46,286,274 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261204   ⟹   XP_005261261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,235,133 - 46,286,274 (-)NCBI
GRCh372147,655,047 - 47,706,211 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261205   ⟹   XP_005261262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,235,133 - 46,286,297 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003897   ⟸   NM_003906
- UniProtKB: O60318 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261262   ⟸   XM_005261205
- Peptide Label: isoform X1
- UniProtKB: O60318 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261260   ⟸   XM_005261203
- Peptide Label: isoform X1
- UniProtKB: O60318 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261261   ⟸   XM_005261204
- Peptide Label: isoform X1
- UniProtKB: O60318 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000291688   ⟸   ENST00000291688
RefSeq Acc Id: ENSP00000408934   ⟸   ENST00000426537
RefSeq Acc Id: ENSP00000380820   ⟸   ENST00000397708
Protein Domains
NupH_GANP   PCI

Promoters
RGD ID:13603088
Promoter ID:EPDNEW_H27728
Type:initiation region
Name:MCM3AP_1
Description:minichromosome maintenance complex component 3 associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27730  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,265 - 46,286,325EPDNEW
RGD ID:13603092
Promoter ID:EPDNEW_H27730
Type:initiation region
Name:MCM3AP_2
Description:minichromosome maintenance complex component 3 associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27728  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,286,597 - 46,286,657EPDNEW
RGD ID:6799482
Promoter ID:HG_KWN:41299
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002ZIO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,490,686 - 46,492,502 (-)MPROMDB
RGD ID:6799485
Promoter ID:HG_KWN:41303
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000207257,   OTTHUMT00000207258
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,502,936 - 46,503,436 (-)MPROMDB
RGD ID:6799484
Promoter ID:HG_KWN:41304
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000207255,   OTTHUMT00000207256
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,510,441 - 46,511,692 (-)MPROMDB
RGD ID:6799486
Promoter ID:HG_KWN:41305
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000207259
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,516,831 - 46,517,331 (-)MPROMDB
RGD ID:6799506
Promoter ID:HG_KWN:41306
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:ENST00000397691,   ENST00000397701,   ENST00000397708,   NM_001006114,   NM_003906,   NM_058181,   OTTHUMT00000207260,   OTTHUMT00000207261,   UC002ZIU.1,   UC002ZIW.1,   UC002ZIY.1,   UC010GQH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,528,141 - 46,530,702 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003906.5(MCM3AP):c.2743G>A (p.Glu915Lys) single nucleotide variant PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT [RCV000077789] Chr21:46267028 [GRCh38]
Chr21:47686942 [GRCh37]
Chr21:21q22.3
pathogenic|uncertain significance
GRCh38/hg38 21q22.3(chr21:46214279-46670405)x1 copy number loss See cases [RCV000050919] Chr21:46214279..46670405 [GRCh38]
Chr21:47634193..48090317 [GRCh37]
Chr21:46458621..46914745 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 copy number loss See cases [RCV000052841] Chr21:45085281..46670546 [GRCh38]
Chr21:46505196..48090458 [GRCh37]
Chr21:45329624..46914886 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 copy number loss See cases [RCV000052842] Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 copy number loss See cases [RCV000052864] Chr21:45138321..46670405 [GRCh38]
Chr21:46558236..48090317 [GRCh37]
Chr21:45382664..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1 copy number loss See cases [RCV000052866] Chr21:45801860..46670405 [GRCh38]
Chr21:47221774..48090317 [GRCh37]
Chr21:46046202..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|See cases [RCV000053073] Chr21:45471378..46670405 [GRCh38]
Chr21:46891292..48090317 [GRCh37]
Chr21:45715720..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47486134-47796810)x3 copy number gain See cases [RCV000184073] Chr21:47486134..47796810 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 copy number gain See cases [RCV000137820] Chr21:45877354..46543273 [GRCh38]
Chr21:47297268..47963186 [GRCh37]
Chr21:46121696..46787614 [NCBI36]
Chr21:21q22.3
likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1 copy number loss See cases [RCV000141901] Chr21:45903036..46677460 [GRCh38]
Chr21:47322950..48097372 [GRCh37]
Chr21:46147378..46921800 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele deletion Axenfeld-Rieger syndrome type 3 [RCV000677943] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 copy number loss See cases [RCV000239957] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1 copy number loss See cases [RCV000240055] Chr21:47550596..48080926 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3
likely pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1 copy number loss See cases [RCV000449447] Chr21:46955240..48080867 [GRCh37]
Chr21:21q22.3
likely pathogenic|uncertain significance
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) single nucleotide variant PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT [RCV000681515] Chr21:46256907 [GRCh38]
Chr21:47676821 [GRCh37]
Chr21:21q22.3
pathogenic
NM_003906.5(MCM3AP):c.2667C>A (p.Tyr889Ter) single nucleotide variant PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT [RCV000681517] Chr21:46267104 [GRCh38]
Chr21:47687018 [GRCh37]
Chr21:21q22.3
pathogenic
NM_003906.5(MCM3AP):c.2600C>A (p.Ala867Asp) single nucleotide variant PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT [RCV000681518] Chr21:46270429 [GRCh38]
Chr21:47690343 [GRCh37]
Chr21:21q22.3
pathogenic
NM_003906.5(MCM3AP):c.2609T>C (p.Leu870Ser) single nucleotide variant PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT [RCV000681521] Chr21:46270420 [GRCh38]
Chr21:47690334 [GRCh37]
Chr21:21q22.3
pathogenic
NM_003906.5(MCM3AP):c.2633G>A (p.Arg878His) single nucleotide variant PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT [RCV000681519] Chr21:46267138 [GRCh38]
Chr21:47687052 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45773272-48097372)x1 copy number loss See cases [RCV000448877] Chr21:45773272..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47704528-47721403)x3 copy number gain See cases [RCV000448253] Chr21:47704528..47721403 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_003906.5(MCM3AP):c.2931T>C (p.His977=) single nucleotide variant not specified [RCV000454481] Chr21:46266025 [GRCh38]
Chr21:47685939 [GRCh37]
Chr21:21q22.3
benign
NM_001314025.2(YBEY):c.210+8_210+12dup duplication not specified [RCV000454904] Chr21:46287125..46287126 [GRCh38]
Chr21:47707039..47707040 [GRCh37]
Chr21:21q22.3
benign
NM_003906.5(MCM3AP):c.305C>T (p.Ser102Leu) single nucleotide variant not specified [RCV000455832] Chr21:46284982 [GRCh38]
Chr21:47704896 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-47681958)x4 copy number gain See cases [RCV000511854] Chr21:47563979..47681958 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47563979-47681958)x3 copy number gain See cases [RCV000512553] Chr21:47563979..47681958 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_003906.5(MCM3AP):c.443del (p.Pro148fs) deletion PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT [RCV000681516] Chr21:46284844 [GRCh38]
Chr21:47704758 [GRCh37]
Chr21:21q22.3
pathogenic
NM_003906.5(MCM3AP):c.2851T>C (p.Ser951Pro) single nucleotide variant PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT [RCV000681520] Chr21:46266105 [GRCh38]
Chr21:47686019 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47678065-47886671)x1 copy number loss not provided [RCV000684138] Chr21:47678065..47886671 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:47563979-48004323)x3 copy number gain not provided [RCV000684146] Chr21:47563979..48004323 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47652184-47678774)x1 copy number loss not provided [RCV000845613] Chr21:47652184..47678774 [GRCh37]
Chr21:21q22.3
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47494789-48117896)x3 copy number gain not provided [RCV000741649] Chr21:47494789..48117896 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:47589136-47657673)x1 copy number loss not provided [RCV000741657] Chr21:47589136..47657673 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589277-47658301)x1 copy number loss not provided [RCV000741661] Chr21:47589277..47658301 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47589826-47681041)x1 copy number loss not provided [RCV000741664] Chr21:47589826..47681041 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47603387-47658404)x1 copy number loss not provided [RCV000741666] Chr21:47603387..47658404 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47657596-47681041)x0 copy number loss not provided [RCV000741669] Chr21:47657596..47681041 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47695080-47851638)x3 copy number gain not provided [RCV000741670] Chr21:47695080..47851638 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47704624-47722489)x3 copy number gain not provided [RCV000741671] Chr21:47704624..47722489 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:47704624-47735390)x3 copy number gain not provided [RCV000741672] Chr21:47704624..47735390 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_003906.5(MCM3AP):c.1239G>A (p.Pro413=) single nucleotide variant not provided [RCV000878998] Chr21:46283819 [GRCh38]
Chr21:47703733 [GRCh37]
Chr21:21q22.3
likely benign
NM_003906.5(MCM3AP):c.985C>T (p.Leu329=) single nucleotide variant not provided [RCV000926809] Chr21:46284302 [GRCh38]
Chr21:47704216 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1 copy number loss not provided [RCV001007150] Chr21:46749869..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.3(chr21:47681922-48097372)x1 copy number loss not provided [RCV001007151] Chr21:47681922..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_003906.5(MCM3AP):c.5076C>T (p.Tyr1692=) single nucleotide variant not provided [RCV000896361] Chr21:46243685 [GRCh38]
Chr21:47663599 [GRCh37]
Chr21:21q22.3
likely benign
NM_003906.5(MCM3AP):c.5727G>A (p.Val1909=) single nucleotide variant not provided [RCV000974493] Chr21:46236886 [GRCh38]
Chr21:47656800 [GRCh37]
Chr21:21q22.3
benign|likely benign
GRCh37/hg19 21q22.3(chr21:47681922-47784627)x3 copy number gain not provided [RCV000848723] Chr21:47681922..47784627 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_003906.5(MCM3AP):c.2867G>A (p.Arg956Lys) single nucleotide variant not provided [RCV000997850] Chr21:46266089 [GRCh38]
Chr21:47686003 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_003906.5(MCM3AP):c.2716C>T (p.Arg906Cys) single nucleotide variant not provided [RCV000997851] Chr21:46267055 [GRCh38]
Chr21:47686969 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1 copy number loss not provided [RCV001007146] Chr21:45866973..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_003906.5(MCM3AP):c.948C>G (p.Ser316=) single nucleotide variant not provided [RCV000891683] Chr21:46284339 [GRCh38]
Chr21:47704253 [GRCh37]
Chr21:21q22.3
benign
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_003906.5(MCM3AP):c.3940C>T (p.Arg1314Trp) single nucleotide variant not provided [RCV000899194] Chr21:46254837 [GRCh38]
Chr21:47674751 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity
NM_003906.5(MCM3AP):c.2833T>G (p.Leu945Val) single nucleotide variant not provided [RCV000973165] Chr21:46266123 [GRCh38]
Chr21:47686037 [GRCh37]
Chr21:21q22.3
benign
NM_003906.5(MCM3AP):c.2466-7_2466-4del microsatellite not provided [RCV000959795] Chr21:46270567..46270570 [GRCh38]
Chr21:47690481..47690484 [GRCh37]
Chr21:21q22.3
benign
NM_003906.5(MCM3AP):c.5426+6G>A single nucleotide variant not provided [RCV000890042] Chr21:46242796 [GRCh38]
Chr21:47662710 [GRCh37]
Chr21:21q22.3
likely benign
NM_003906.5(MCM3AP):c.1953C>T (p.Thr651=) single nucleotide variant not provided [RCV000934032] Chr21:46275231 [GRCh38]
Chr21:47695145 [GRCh37]
Chr21:21q22.3
likely benign
NM_003906.5(MCM3AP):c.5278dup (p.Arg1760fs) duplication not provided [RCV001008526] Chr21:46243482..46243483 [GRCh38]
Chr21:47663396..47663397 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_003906.5(MCM3AP):c.3789_3798CCCTGCTGCG[3] (p.Val1270fs) microsatellite not provided [RCV001009175] Chr21:46256912..46256913 [GRCh38]
Chr21:47676826..47676827 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6946 AgrOrtholog
COSMIC MCM3AP COSMIC
Ensembl Genes ENSG00000160294 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000291688 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000380820 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000408934 UniProtKB/TrEMBL
Ensembl Transcript ENST00000291688 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000397708 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000426537 UniProtKB/TrEMBL
GTEx ENSG00000160294 GTEx
HGNC ID HGNC:6946 ENTREZGENE
Human Proteome Map MCM3AP Human Proteome Map
InterPro GANP_CID_dom UniProtKB/Swiss-Prot
  MCM3AP_GANP UniProtKB/Swiss-Prot
  MCM3AP_RRM UniProtKB/Swiss-Prot
  NupH_GANP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PCI_dom UniProtKB/Swiss-Prot
  RBD_domain_sf UniProtKB/Swiss-Prot
  SAC3/GANP/THP3 UniProtKB/Swiss-Prot
KEGG Report hsa:8888 UniProtKB/Swiss-Prot
NCBI Gene 8888 ENTREZGENE
OMIM 603294 OMIM
  618124 OMIM
Pfam CID_GANP UniProtKB/Swiss-Prot
  MCM3AP_GANP UniProtKB/Swiss-Prot
  NupH_GANP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAC3_GANP UniProtKB/Swiss-Prot
PharmGKB PA30692 PharmGKB
PROSITE PCI UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot
UniGene Hs.389037 ENTREZGENE
  Hs.592438 ENTREZGENE
UniProt A0A0A0MSZ7_HUMAN UniProtKB/TrEMBL
  GANP_HUMAN UniProtKB/Swiss-Prot
  L8ECA8_HUMAN UniProtKB/TrEMBL
  O60318 ENTREZGENE
UniProt Secondary C9JL56 UniProtKB/Swiss-Prot
  Q2M3C1 UniProtKB/Swiss-Prot
  Q6PJP6 UniProtKB/Swiss-Prot
  Q9BSY5 UniProtKB/Swiss-Prot
  Q9UMT4 UniProtKB/Swiss-Prot

 



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