CCDC134 (coiled-coil domain containing 134) - Rat Genome Database

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Gene: CCDC134 (coiled-coil domain containing 134) Homo sapiens
Analyze
Symbol: CCDC134
Name: coiled-coil domain containing 134
RGD ID: 1605621
HGNC Page HGNC
Description: Predicted to act upstream of or within angiogenesis and animal organ development. Located in membrane; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; amiodarone; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: coiled-coil domain-containing protein 134; dJ821D11.3; FLJ22349; MGC21013
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,800,679 - 41,832,164 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,800,679 - 41,832,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,196,683 - 42,228,168 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,526,624 - 40,552,249 (+)NCBINCBI36hg18NCBI36
Celera2226,002,745 - 26,028,378 (+)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,162,231 - 25,187,861 (+)NCBIHuRef
CHM1_12242,156,707 - 42,182,315 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10591208   PMID:12477932   PMID:14702039   PMID:15461802   PMID:15489334   PMID:16196087   PMID:16713569   PMID:18087676   PMID:18187620   PMID:19946888   PMID:21123754  
PMID:21890473   PMID:22644376   PMID:22658674   PMID:23070808   PMID:23383273   PMID:25125657   PMID:26638075   PMID:29115376   PMID:29117863   PMID:29507755   PMID:32296183   PMID:34079125  


Genomics

Comparative Map Data
CCDC134
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,800,679 - 41,832,164 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,800,679 - 41,832,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,196,683 - 42,228,168 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,526,624 - 40,552,249 (+)NCBINCBI36hg18NCBI36
Celera2226,002,745 - 26,028,378 (+)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,162,231 - 25,187,861 (+)NCBIHuRef
CHM1_12242,156,707 - 42,182,315 (+)NCBICHM1_1
Ccdc134
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391582,012,101 - 82,026,404 (+)NCBIGRCm39mm39
GRCm39 Ensembl1582,012,123 - 82,026,404 (+)Ensembl
GRCm381582,127,898 - 82,142,203 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1582,127,922 - 82,142,203 (+)EnsemblGRCm38mm10GRCm38
MGSCv371581,958,352 - 81,972,633 (+)NCBIGRCm37mm9NCBIm37
MGSCv361581,955,251 - 81,969,455 (+)NCBImm8
Celera1584,251,167 - 84,265,449 (+)NCBICelera
Cytogenetic Map15E1NCBI
Ccdc134
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,644,557 - 113,659,050 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,644,639 - 113,659,050 (+)Ensembl
Rnor_6.07123,362,471 - 123,376,930 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,364,312 - 123,376,221 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,345,979 - 123,360,343 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,505,741 - 120,517,685 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7109,961,749 - 109,973,693 (+)NCBICelera
Cytogenetic Map7q34NCBI
Ccdc134
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541327,249,272 - 27,265,635 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541327,248,879 - 27,265,635 (+)NCBIChiLan1.0ChiLan1.0
CCDC134
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12240,778,244 - 40,810,549 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2240,778,254 - 40,804,191 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02222,692,503 - 22,724,871 (+)NCBIMhudiblu_PPA_v0panPan3
Ccdc134
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049457,165,338 - 7,185,212 (-)NCBI
SpeTri2.0NW_004936492180,135 - 195,599 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC134
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,785,945 - 6,799,913 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,785,957 - 6,800,816 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CCDC134
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,332,293 - 24,358,056 (+)NCBI
ChlSab1.1 Ensembl1924,332,316 - 24,357,583 (+)Ensembl
Vero_WHO_p1.0NW_023666045101,050,699 - 101,079,923 (-)NCBI
Ccdc134
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247526,872,192 - 6,885,435 (-)NCBI

Position Markers
SHGC-36258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,207,321 - 42,207,424UniSTSGRCh37
Build 362240,537,267 - 40,537,370RGDNCBI36
Celera2226,013,393 - 26,013,496RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,172,805 - 25,172,908UniSTS
GeneMap99-G3 RH Map221353.0UniSTS
G49425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,205,805 - 42,206,159UniSTSGRCh37
Build 362240,535,751 - 40,536,105RGDNCBI36
Celera2226,011,877 - 26,012,231RGD
Cytogenetic Map22q13.2UniSTS
HuRef2225,171,289 - 25,171,643UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:748
Count of miRNA genes:500
Interacting mature miRNAs:559
Transcripts:ENST00000255784, ENST00000402061
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 131 10 243 35 631 30 258 54 108 125 511 223 18 2 3
Low 2301 2837 1472 578 1284 424 4092 2039 3231 291 949 1390 157 1 1201 2780 3 2
Below cutoff 7 144 11 11 35 11 7 104 394 3 3 6

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000255784   ⟹   ENSP00000255784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,800,679 - 41,832,164 (+)Ensembl
RefSeq Acc Id: ENST00000402061   ⟹   ENSP00000385803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,800,679 - 41,825,893 (+)Ensembl
RefSeq Acc Id: NM_001304797   ⟹   NP_001291726
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,800,679 - 41,832,164 (+)NCBI
CHM1_12242,156,655 - 42,182,312 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382346   ⟹   NP_001369275
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,800,679 - 41,832,164 (+)NCBI
RefSeq Acc Id: NM_024821   ⟹   NP_079097
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,800,679 - 41,832,164 (+)NCBI
GRCh372242,196,636 - 42,228,175 (+)NCBI
Build 362240,526,624 - 40,552,249 (+)NCBI Archive
Celera2226,002,745 - 26,028,378 (+)RGD
HuRef2225,162,231 - 25,187,861 (+)RGD
CHM1_12242,156,655 - 42,182,312 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079097   ⟸   NM_024821
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9H6E4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291726   ⟸   NM_001304797
- Peptide Label: isoform 2 precursor
- UniProtKB: B0QY51 (UniProtKB/TrEMBL),   B4DRL0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001369275   ⟸   NM_001382346
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: ENSP00000255784   ⟸   ENST00000255784
RefSeq Acc Id: ENSP00000385803   ⟸   ENST00000402061

Promoters
RGD ID:6799869
Promoter ID:HG_KWN:43018
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:ENST00000255784,   ENST00000402061,   OTTHUMT00000321965
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,525,831 - 40,526,592 (+)MPROMDB
RGD ID:13604286
Promoter ID:EPDNEW_H28327
Type:initiation region
Name:CCDC134_1
Description:coiled-coil domain containing 134
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,800,679 - 41,800,739EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 copy number loss See cases [RCV000136528] Chr22:41645339..42565798 [GRCh38]
Chr22:42041343..42961804 [GRCh37]
Chr22:40371289..41291748 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3 copy number gain See cases [RCV000142720] Chr22:41764466..41998153 [GRCh38]
Chr22:42160470..42394157 [GRCh37]
Chr22:40490416..40724103 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1 copy number loss See cases [RCV000240146] Chr22:42207144..42776457 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_024821.4(CCDC134):c.2T>C (p.Met1Thr) single nucleotide variant Recurrent fractures [RCV000785184] Chr22:41808892 [GRCh38]
Chr22:42204896 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1 copy number loss not provided [RCV001258783] Chr22:41853620..42385978 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:42158393-42409550)x3 copy number gain not provided [RCV001258784] Chr22:42158393..42409550 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26185 AgrOrtholog
COSMIC CCDC134 COSMIC
Ensembl Genes ENSG00000100147 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000255784 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385803 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000255784 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402061 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000100147 GTEx
HGNC ID HGNC:26185 ENTREZGENE
Human Proteome Map CCDC134 Human Proteome Map
InterPro Coiled-coil_dom_con_pro_134 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79879 UniProtKB/Swiss-Prot
NCBI Gene 79879 ENTREZGENE
OMIM 618788 OMIM
PANTHER PTHR14735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ERK-JNK_inhib UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162381361 PharmGKB
UniProt B0QY51 ENTREZGENE, UniProtKB/TrEMBL
  B4DRL0 ENTREZGENE, UniProtKB/TrEMBL
  CC134_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE