ZC3H3 (zinc finger CCCH-type containing 3) - Rat Genome Database

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Gene: ZC3H3 (zinc finger CCCH-type containing 3) Homo sapiens
Analyze
Symbol: ZC3H3
Name: zinc finger CCCH-type containing 3
RGD ID: 1316375
HGNC Page HGNC
Description: Predicted to have SMAD binding activity. Involved in regulation of mRNA polyadenylation. Localizes to nucleus; INTERACTS WITH 5-aza-2'-deoxycytidine; 5-fluorouracil; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: KIAA0150; smad-interacting CPSF-like factor; SMICL; ZC3HDC3; zinc finger CCCH domain-containing protein 3; zinc finger CCCH type domain containing 3; zinc finger CCCH-type domain containing 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,437,659 - 143,541,447 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,437,655 - 143,549,729 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,519,829 - 144,623,617 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,590,968 - 144,694,763 (-)NCBINCBI36hg18NCBI36
Build 348144,590,974 - 144,694,746NCBI
Celera8140,831,713 - 140,933,556 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,772,578 - 139,874,905 (-)NCBIHuRef
CHM1_18144,560,281 - 144,663,535 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8590280   PMID:15489334   PMID:16115198   PMID:16751776   PMID:19274049   PMID:19364924   PMID:19851296   PMID:20198315   PMID:21244100   PMID:21873635   PMID:22658674   PMID:23509962  
PMID:24163370   PMID:26186194   PMID:26496610   PMID:26544073   PMID:27197753   PMID:28514442   PMID:29509190   PMID:31300519   PMID:31753913   PMID:31950173  


Genomics

Comparative Map Data
ZC3H3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,437,659 - 143,541,447 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,437,655 - 143,549,729 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,519,829 - 144,623,617 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,590,968 - 144,694,763 (-)NCBINCBI36hg18NCBI36
Build 348144,590,974 - 144,694,746NCBI
Celera8140,831,713 - 140,933,556 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,772,578 - 139,874,905 (-)NCBIHuRef
CHM1_18144,560,281 - 144,663,535 (-)NCBICHM1_1
Zc3h3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,626,279 - 75,713,910 (-)NCBIGRCm39mm39
GRCm39 Ensembl1575,626,279 - 75,713,764 (-)Ensembl
GRCm381575,754,430 - 75,842,061 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,754,430 - 75,841,915 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,584,877 - 75,672,338 (-)NCBIGRCm37mm9NCBIm37
MGSCv361575,581,702 - 75,669,163 (-)NCBImm8
MGSCv361576,251,464 - 76,338,765 (-)NCBImm8
Celera1577,255,238 - 77,342,629 (-)NCBICelera
Cytogenetic Map15D3NCBI
Zc3h3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,440,694 - 107,525,451 (-)NCBI
Rnor_6.0 Ensembl7116,787,766 - 116,872,511 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,787,762 - 116,872,536 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,679,040 - 116,765,271 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,714,123 - 113,813,124 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17113,743,162 - 113,847,328 (-)NCBI
Celera7103,802,384 - 103,885,283 (-)NCBICelera
Cytogenetic Map7q34NCBI
Zc3h3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,142,062 - 2,239,518 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,145,605 - 2,239,643 (-)NCBIChiLan1.0ChiLan1.0
ZC3H3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,203,325 - 143,309,829 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,203,325 - 143,310,210 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,188,041 - 140,294,113 (-)NCBIMhudiblu_PPA_v0panPan3
ZC3H3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,128,915 - 37,214,643 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,130,999 - 37,214,997 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,086,105 - 37,173,402 (-)NCBI
ROS_Cfam_1.01337,601,143 - 37,688,716 (-)NCBI
UMICH_Zoey_3.11337,275,547 - 37,363,068 (-)NCBI
UNSW_CanFamBas_1.01337,392,711 - 37,480,013 (-)NCBI
UU_Cfam_GSD_1.01337,873,663 - 37,961,174 (-)NCBI
Zc3h3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,165,453 - 1,249,414 (+)NCBI
SpeTri2.0NW_0049364708,591,564 - 8,675,505 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZC3H3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,010,638 - 1,089,738 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,009,927 - 1,084,133 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,182,154 - 1,233,200 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZC3H3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,656,299 - 137,762,448 (-)NCBI
ChlSab1.1 Ensembl8137,656,302 - 137,762,403 (-)Ensembl
Zc3h3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,230,576 - 13,320,068 (+)NCBI

Position Markers
D8S1406E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,519,849 - 144,519,966UniSTSGRCh37
Build 368144,590,992 - 144,591,109RGDNCBI36
Celera8140,831,737 - 140,831,854RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,772,602 - 139,772,719UniSTS
RH25370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,621,306 - 144,621,482UniSTSGRCh37
Build 368144,692,449 - 144,692,625RGDNCBI36
Celera8140,931,256 - 140,931,432RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,872,591 - 139,872,767UniSTS
GeneMap99-GB4 RH Map8548.97UniSTS
D8S1998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,533,097 - 144,533,221UniSTSGRCh37
Build 368144,604,240 - 144,604,364RGDNCBI36
Celera8140,844,976 - 140,845,100RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,785,841 - 139,785,965UniSTS
Whitehead-RH Map8714.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:715
Count of miRNA genes:480
Interacting mature miRNAs:536
Transcripts:ENST00000262577, ENST00000528401
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 2285 2146 1560 484 1808 346 4190 1625 1951 321 1442 1592 151 1191 2632 3
Low 153 845 166 140 138 119 167 572 1783 98 18 21 24 1 13 156 3 2
Below cutoff 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_015117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA806585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM148116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ583219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262577   ⟹   ENSP00000262577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,437,659 - 143,541,447 (-)Ensembl
RefSeq Acc Id: ENST00000528401   ⟹   ENSP00000436834
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,484,497 - 143,507,840 (-)Ensembl
RefSeq Acc Id: NM_015117   ⟹   NP_055932
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,437,659 - 143,541,447 (-)NCBI
GRCh378144,519,825 - 144,624,449 (-)NCBI
Build 368144,590,968 - 144,694,763 (-)NCBI Archive
Celera8140,831,713 - 140,933,556 (-)RGD
HuRef8139,772,578 - 139,874,905 (-)ENTREZGENE
CHM1_18144,560,281 - 144,663,535 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716536   ⟹   XP_006716599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,437,655 - 143,542,376 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516943   ⟹   XP_011515245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,450,554 - 143,541,565 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516944   ⟹   XP_011515246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,484,375 - 143,541,565 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013248   ⟹   XP_016868737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,437,655 - 143,549,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013249   ⟹   XP_016868738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,437,655 - 143,542,150 (-)NCBI
Sequence:
RefSeq Acc Id: XR_928313
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,507,836 - 143,541,565 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055932   ⟸   NM_015117
- UniProtKB: Q8IXZ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716599   ⟸   XM_006716536
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515245   ⟸   XM_011516943
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515246   ⟸   XM_011516944
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016868737   ⟸   XM_017013248
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016868738   ⟸   XM_017013249
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000262577   ⟸   ENST00000262577
RefSeq Acc Id: ENSP00000436834   ⟸   ENST00000528401

Promoters
RGD ID:7214351
Promoter ID:EPDNEW_H12921
Type:initiation region
Name:ZC3H3_2
Description:zinc finger CCCH-type containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12927  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,541,437 - 143,541,497EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
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 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 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
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
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
NM_015117.2(ZC3H3):c.2636C>T (p.Ser879Phe) single nucleotide variant Malignant melanoma [RCV000068193] Chr8:143440220 [GRCh38]
Chr8:144522390 [GRCh37]
Chr8:144593533 [NCBI36]
Chr8:8q24.3
not provided
GRCh38/hg38 8q24.3(chr8:143329374-143531855)x3 copy number gain See cases [RCV000134350] Chr8:143329374..143531855 [GRCh38]
Chr8:144411544..144614025 [GRCh37]
Chr8:144482919..144685168 [NCBI36]
Chr8:8q24.3
uncertain significance
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 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
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 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
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 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 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 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
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
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 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 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 8q24.3(chr8:144589991-144645202)x1 copy number loss See cases [RCV000448971] Chr8:144589991..144645202 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
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 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely 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 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 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
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 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
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 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621035-144713934)x0 copy number loss not provided [RCV000747936] Chr8:144621035..144713934 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621084-144638839)x0 copy number loss not provided [RCV000747937] Chr8:144621084..144638839 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621839-144694067)x3 copy number gain not provided [RCV000747938] Chr8:144621839..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144685178)x3 copy number gain not provided [RCV000747939] Chr8:144623574..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144687901)x3 copy number gain not provided [RCV000747940] Chr8:144623574..144687901 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144694067)x3 copy number gain not provided [RCV000747941] Chr8:144623574..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
NM_015117.3(ZC3H3):c.2779G>T (p.Val927Phe) single nucleotide variant not provided [RCV000892700] Chr8:143440077 [GRCh38]
Chr8:144522247 [GRCh37]
Chr8:8q24.3
benign
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 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144320365-144624272)x3 copy number gain not provided [RCV001006154] Chr8:144320365..144624272 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:144285728-144534781)x3 copy number gain not provided [RCV001259511] Chr8:144285728..144534781 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28972 AgrOrtholog
COSMIC ZC3H3 COSMIC
Ensembl Genes ENSG00000014164 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000282684 UniProtKB/TrEMBL
Ensembl Protein ENSP00000262577 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000436834 UniProtKB/TrEMBL
  ENSP00000488807 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262577 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000528401 UniProtKB/TrEMBL
  ENST00000632165 UniProtKB/TrEMBL
GTEx ENSG00000014164 GTEx
  ENSG00000282684 GTEx
HGNC ID HGNC:28972 ENTREZGENE
Human Proteome Map ZC3H3 Human Proteome Map
InterPro Znf_CCCH UniProtKB/Swiss-Prot
  Znf_CCCH_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23144 UniProtKB/Swiss-Prot
NCBI Gene 23144 ENTREZGENE
OMIM 618640 OMIM
Pfam zf-CCCH UniProtKB/Swiss-Prot
PharmGKB PA134933089 PharmGKB
PROSITE ZF_C3H1 UniProtKB/Swiss-Prot
SMART ZnF_C3H1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF90229 UniProtKB/Swiss-Prot
UniProt A0A0J9YYE2_HUMAN UniProtKB/TrEMBL
  H0YEY2_HUMAN UniProtKB/TrEMBL
  Q8IXZ2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q14163 UniProtKB/Swiss-Prot
  Q8N4E2 UniProtKB/Swiss-Prot
  Q9BUS4 UniProtKB/Swiss-Prot