NUDCD1 (NudC domain containing 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NUDCD1 (NudC domain containing 1) Homo sapiens
Analyze
Symbol: NUDCD1
Name: NudC domain containing 1
RGD ID: 1349940
HGNC Page HGNC
Description: Predicted to be involved in immune system process. Localizes to cytosol and nucleoplasm; INTERACTS WITH (-)-epigallocatechin 3-gallate; arsane; arsenic atom.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: chronic myelogenous leukemia tumor antigen 66; CML66; FLJ14991; nudC domain-containing protein 1; OVA66; tumor antigen CML66
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 Ensembl8109,240,919 - 109,334,121 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8109,240,919 - 109,334,118 (-)EnsemblGRCh38hg38GRCh38
GRCh388109,240,919 - 109,334,087 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378110,253,148 - 110,346,316 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368110,322,324 - 110,415,491 (-)NCBINCBI36hg18NCBI36
Build 348110,322,324 - 110,415,491NCBI
Celera8106,440,850 - 106,534,040 (-)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8105,575,211 - 105,668,355 (-)NCBIHuRef
CHM1_18110,293,071 - 110,386,598 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IEA)

Molecular Function

References

Additional References at PubMed
PMID:11416219   PMID:14688378   PMID:18534745   PMID:18754882   PMID:19615732   PMID:22863883   PMID:23402259   PMID:24163370   PMID:25036637   PMID:25921289   PMID:26186194   PMID:27371349  
PMID:28514442   PMID:29021621   PMID:29461594   PMID:30833190  


Genomics

Comparative Map Data
NUDCD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8109,240,919 - 109,334,121 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8109,240,919 - 109,334,118 (-)EnsemblGRCh38hg38GRCh38
GRCh388109,240,919 - 109,334,087 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378110,253,148 - 110,346,316 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368110,322,324 - 110,415,491 (-)NCBINCBI36hg18NCBI36
Build 348110,322,324 - 110,415,491NCBI
Celera8106,440,850 - 106,534,040 (-)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8105,575,211 - 105,668,355 (-)NCBIHuRef
CHM1_18110,293,071 - 110,386,598 (-)NCBICHM1_1
Nudcd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391544,238,623 - 44,291,703 (-)NCBIGRCm39mm39
GRCm39 Ensembl1544,236,559 - 44,291,703 (-)Ensembl
GRCm381544,375,227 - 44,428,307 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1544,373,163 - 44,428,307 (-)EnsemblGRCm38mm10GRCm38
MGSCv371544,206,773 - 44,259,853 (-)NCBIGRCm37mm9NCBIm37
MGSCv361544,205,305 - 44,257,962 (-)NCBImm8
Celera1544,831,733 - 44,891,316 (-)NCBICelera
Cytogenetic Map15B3.2NCBI
Nudcd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2775,550,650 - 75,595,976 (-)NCBI
Rnor_6.0 Ensembl783,301,941 - 83,348,487 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0783,302,778 - 83,348,534 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0783,316,885 - 83,362,628 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4780,255,081 - 80,299,620 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1780,276,134 - 80,320,284 (-)NCBI
Celera772,536,058 - 72,579,962 (-)NCBICelera
Cytogenetic Map7q31NCBI
Nudcd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541716,686,296 - 16,750,427 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541716,688,629 - 16,750,427 (-)NCBIChiLan1.0ChiLan1.0
NUDCD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18108,038,659 - 108,129,797 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8108,038,659 - 108,129,797 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08105,893,784 - 105,984,995 (-)NCBIMhudiblu_PPA_v0panPan3
NUDCD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1139,815,394 - 9,895,410 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl139,815,957 - 9,895,359 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha139,799,805 - 9,886,375 (-)NCBI
ROS_Cfam_1.01310,096,853 - 10,177,290 (-)NCBI
UMICH_Zoey_3.1139,838,631 - 9,918,869 (-)NCBI
UNSW_CanFamBas_1.0139,955,853 - 10,035,820 (-)NCBI
UU_Cfam_GSD_1.01310,045,303 - 10,125,384 (-)NCBI
Nudcd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530328,223,653 - 28,283,414 (+)NCBI
SpeTri2.0NW_00493647035,649,752 - 35,709,569 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NUDCD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl428,203,743 - 28,331,579 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1428,203,716 - 28,319,944 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2430,675,395 - 30,748,179 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NUDCD1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18103,952,873 - 104,044,592 (-)NCBI
ChlSab1.1 Ensembl8103,951,207 - 104,044,468 (-)Ensembl
Nudcd1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247638,349,713 - 8,423,540 (-)NCBI

Position Markers
STS-N32587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,254,948 - 110,255,078UniSTSGRCh37
Build 368110,324,124 - 110,324,254RGDNCBI36
Celera8106,442,652 - 106,442,781RGD
Cytogenetic Map8q23UniSTS
HuRef8105,577,011 - 105,577,140UniSTS
GeneMap99-GB4 RH Map8445.61UniSTS
RH98525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,345,108 - 110,345,282UniSTSGRCh37
Build 368110,414,284 - 110,414,458RGDNCBI36
Celera8106,532,798 - 106,532,972RGD
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map8q23UniSTS
HuRef8105,667,113 - 105,667,287UniSTS
GeneMap99-GB4 RH Map8439.2UniSTS
RH121198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,258,784 - 110,259,109UniSTSGRCh37
Build 368110,327,960 - 110,328,285RGDNCBI36
Celera8106,446,487 - 106,446,812RGD
Cytogenetic Map8q23UniSTS
HuRef8105,580,846 - 105,581,171UniSTS
TNG Radiation Hybrid Map865924.0UniSTS
STS-AA009819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,255,028 - 110,255,230UniSTSGRCh37
Build 368110,324,204 - 110,324,406RGDNCBI36
Celera8106,442,731 - 106,442,933RGD
Cytogenetic Map8q23UniSTS
HuRef8105,577,090 - 105,577,292UniSTS
GeneMap99-GB4 RH Map8436.63UniSTS
RH70342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,346,843 - 110,347,040UniSTSGRCh37
Build 368110,416,019 - 110,416,216RGDNCBI36
Celera8106,534,533 - 106,534,730RGD
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map8q23UniSTS
HuRef8105,668,848 - 105,669,045UniSTS
GeneMap99-GB4 RH Map8445.61UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1527
Count of miRNA genes:666
Interacting mature miRNAs:776
Transcripts:ENST00000239690, ENST00000427660, ENST00000519607, ENST00000521439
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 481 287 489 103 784 88 1550 230 672 185 1031 982 29 915 705 4
Low 1955 2398 1235 521 867 376 2806 1963 3046 232 420 628 144 289 2083 2
Below cutoff 1 301 1 298 1 2 11 2 6 2 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001128211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF283301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF283302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF521133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF521134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000239690   ⟹   ENSP00000239690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,240,919 - 109,334,087 (-)Ensembl
RefSeq Acc Id: ENST00000427660   ⟹   ENSP00000410707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,242,675 - 109,329,934 (-)Ensembl
RefSeq Acc Id: ENST00000519607   ⟹   ENSP00000430095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,242,675 - 109,334,118 (-)Ensembl
RefSeq Acc Id: ENST00000521439   ⟹   ENSP00000430859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,275,415 - 109,329,892 (-)Ensembl
RefSeq Acc Id: ENST00000676569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,244,350 - 109,334,121 (-)Ensembl
RefSeq Acc Id: ENST00000676990
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,241,021 - 109,271,930 (-)Ensembl
RefSeq Acc Id: ENST00000677182   ⟹   ENSP00000503895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,240,942 - 109,334,121 (-)Ensembl
RefSeq Acc Id: ENST00000677737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,251,259 - 109,334,108 (-)Ensembl
RefSeq Acc Id: ENST00000678094   ⟹   ENSP00000503886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,241,021 - 109,334,121 (-)Ensembl
RefSeq Acc Id: ENST00000678168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,240,942 - 109,334,121 (-)Ensembl
RefSeq Acc Id: ENST00000679027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,240,942 - 109,296,731 (-)Ensembl
RefSeq Acc Id: NM_001128211   ⟹   NP_001121683
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,240,919 - 109,329,934 (-)NCBI
GRCh378110,253,148 - 110,346,486 (-)NCBI
Celera8106,440,850 - 106,534,040 (-)RGD
HuRef8105,575,211 - 105,668,355 (-)RGD
CHM1_18110,293,071 - 110,382,410 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032869   ⟹   NP_116258
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,240,919 - 109,334,087 (-)NCBI
GRCh378110,253,148 - 110,346,486 (-)NCBI
Build 368110,322,324 - 110,415,491 (-)NCBI Archive
Celera8106,440,850 - 106,534,040 (-)RGD
HuRef8105,575,211 - 105,668,355 (-)RGD
CHM1_18110,293,071 - 110,386,598 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013910   ⟹   XP_016869399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,240,920 - 109,334,087 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013911   ⟹   XP_016869400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,240,920 - 109,329,887 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_116258   ⟸   NM_032869
- Peptide Label: isoform 1
- UniProtKB: Q96RS6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001121683   ⟸   NM_001128211
- Peptide Label: isoform 2
- UniProtKB: Q96RS6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869400   ⟸   XM_017013911
- Peptide Label: isoform X1
- UniProtKB: Q96RS6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869399   ⟸   XM_017013910
- Peptide Label: isoform X1
- UniProtKB: Q96RS6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000430095   ⟸   ENST00000519607
RefSeq Acc Id: ENSP00000410707   ⟸   ENST00000427660
RefSeq Acc Id: ENSP00000430859   ⟸   ENST00000521439
RefSeq Acc Id: ENSP00000239690   ⟸   ENST00000239690
RefSeq Acc Id: ENSP00000503895   ⟸   ENST00000677182
RefSeq Acc Id: ENSP00000503886   ⟸   ENST00000678094
Protein Domains
CS

Promoters
RGD ID:7213993
Promoter ID:EPDNEW_H12742
Type:initiation region
Name:NUDCD1_1
Description:NudC domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12744  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,334,087 - 109,334,147EPDNEW
RGD ID:7213997
Promoter ID:EPDNEW_H12744
Type:single initiation site
Name:NUDCD1_2
Description:NudC domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12742  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,334,492 - 109,334,552EPDNEW
RGD ID:6806731
Promoter ID:HG_KWN:61922
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:ENST00000339942,   NM_032869,   UC003YNC.1,   UC010MCL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368110,414,871 - 110,415,907 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3 copy number gain See cases [RCV000052185] Chr8:107356178..110913494 [GRCh38]
Chr8:108368406..111925723 [GRCh37]
Chr8:108437582..111994899 [NCBI36]
Chr8:8q23.1-23.2
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_001128211.1(NUDCD1):c.904C>T (p.His302Tyr) single nucleotide variant Malignant melanoma [RCV000068086] Chr8:109281005 [GRCh38]
Chr8:110293234 [GRCh37]
Chr8:110362410 [NCBI36]
Chr8:8q23.1
not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q23.1-23.2(chr8:108988194-109697085)x3 copy number gain See cases [RCV000142133] Chr8:108988194..109697085 [GRCh38]
Chr8:110000423..110709314 [GRCh37]
Chr8:110069599..110778490 [NCBI36]
Chr8:8q23.1-23.2
likely benign|uncertain significance
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1-23.2(chr8:109214531-110868812)x3 copy number gain See cases [RCV000446663] Chr8:109214531..110868812 [GRCh37]
Chr8:8q23.1-23.2
uncertain significance
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1(chr8:110174335-110333207)x1 copy number loss not provided [RCV000747768] Chr8:110174335..110333207 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q23.1-23.2(chr8:109858221-110567774)x1 copy number loss not provided [RCV001006128] Chr8:109858221..110567774 [GRCh37]
Chr8:8q23.1-23.2
uncertain significance
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1(chr8:110273152-110328136)x1 copy number loss not provided [RCV001006129] Chr8:110273152..110328136 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8q23.1(chr8:109694757-110374218)x3 copy number gain not provided [RCV001259024] Chr8:109694757..110374218 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24306 AgrOrtholog
COSMIC NUDCD1 COSMIC
Ensembl Genes ENSG00000120526 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000239690 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000410707 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430095 UniProtKB/TrEMBL
  ENSP00000430859 UniProtKB/TrEMBL
  ENSP00000503886 UniProtKB/TrEMBL
  ENSP00000503895 UniProtKB/TrEMBL
Ensembl Transcript ENST00000239690 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427660 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519607 UniProtKB/TrEMBL
  ENST00000521439 UniProtKB/TrEMBL
  ENST00000677182 UniProtKB/TrEMBL
  ENST00000678094 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.790 UniProtKB/Swiss-Prot
GTEx ENSG00000120526 GTEx
HGNC ID HGNC:24306 ENTREZGENE
Human Proteome Map NUDCD1 Human Proteome Map
InterPro CS_dom UniProtKB/Swiss-Prot
  HSP20-like_chaperone UniProtKB/Swiss-Prot
  NUDCD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84955 UniProtKB/Swiss-Prot
NCBI Gene 84955 ENTREZGENE
OMIM 606109 OMIM
PANTHER PTHR21664 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF04969 UniProtKB/Swiss-Prot
PharmGKB PA134985670 PharmGKB
PROSITE PS51203 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49764 UniProtKB/Swiss-Prot
UniProt A0A7I2V457_HUMAN UniProtKB/TrEMBL
  A0A7I2V4C4_HUMAN UniProtKB/TrEMBL
  E5RGX7_HUMAN UniProtKB/TrEMBL
  E5RHQ3_HUMAN UniProtKB/TrEMBL
  L8E919_HUMAN UniProtKB/TrEMBL
  NUDC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DVX6 UniProtKB/Swiss-Prot
  Q4G130 UniProtKB/Swiss-Prot
  Q8NDQ5 UniProtKB/Swiss-Prot
  Q8NG18 UniProtKB/Swiss-Prot
  Q96SI4 UniProtKB/Swiss-Prot
  Q9BVR5 UniProtKB/Swiss-Prot