CYC1 (cytochrome c1) - Rat Genome Database

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Gene: CYC1 (cytochrome c1) Homo sapiens
Analyze
Symbol: CYC1
Name: cytochrome c1
RGD ID: 1315303
HGNC Page HGNC
Description: Predicted to have ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial ATP synthesis coupled proton transport and mitochondrial electron transport, ubiquinol to cytochrome c. Localizes to membrane; mitochondrion; and nucleus. Implicated in mitochondrial complex III deficiency nuclear type 6.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: complex III subunit 4; complex III subunit IV; cytochrome b-c1 complex subunit 4; cytochrome c-1; cytochrome c1, heme protein, mitochondrial; MC3DN6; ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit; UQCR4
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 Ensembl8144,095,039 - 144,097,525 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,095,076 - 144,097,525 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,149,979 - 145,152,428 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,221,948 - 145,224,416 (+)NCBINCBI36hg18NCBI36
Build 348145,221,986 - 145,224,415NCBI
Celera8141,487,538 - 141,489,945 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,425,864 - 140,428,305 (+)NCBIHuRef
CHM1_18145,190,173 - 145,192,638 (+)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

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:2536365   PMID:2836796   PMID:2839188   PMID:2999105   PMID:3036122   PMID:6262312   PMID:8125298   PMID:8188279   PMID:10453733   PMID:11181702   PMID:12095993   PMID:12096338  
PMID:12477932   PMID:12750393   PMID:12750404   PMID:12788227   PMID:14966123   PMID:15146197   PMID:15489334   PMID:15544925   PMID:16511342   PMID:16699948   PMID:17500595   PMID:18029348  
PMID:19946888   PMID:20360068   PMID:20440543   PMID:20562859   PMID:20628624   PMID:20833797   PMID:20877624   PMID:21150319   PMID:21577235   PMID:21630459   PMID:21873635   PMID:22268729  
PMID:22304920   PMID:22658674   PMID:22939629   PMID:22990118   PMID:23874603   PMID:23910460   PMID:24337577   PMID:25315684   PMID:25562155   PMID:25921289   PMID:26186194   PMID:26344197  
PMID:26496610   PMID:26972000   PMID:27117663   PMID:27239088   PMID:27342126   PMID:27432908   PMID:27499296   PMID:28380382   PMID:28391262   PMID:28394473   PMID:28514442   PMID:28515276  
PMID:28700943   PMID:29180619   PMID:29507755   PMID:29509190   PMID:29509794   PMID:29568061   PMID:29859926   PMID:30097533   PMID:30196744   PMID:30455355   PMID:30462309   PMID:30590033  
PMID:30669930   PMID:31073040   PMID:31149728   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31594818   PMID:31617661   PMID:31980649   PMID:32041737   PMID:32457219   PMID:32717223  
PMID:32814053   PMID:32877691  


Genomics

Comparative Map Data
CYC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,095,039 - 144,097,525 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,095,076 - 144,097,525 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,149,979 - 145,152,428 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,221,948 - 145,224,416 (+)NCBINCBI36hg18NCBI36
Build 348145,221,986 - 145,224,415NCBI
Celera8141,487,538 - 141,489,945 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,425,864 - 140,428,305 (+)NCBIHuRef
CHM1_18145,190,173 - 145,192,638 (+)NCBICHM1_1
Cyc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,227,711 - 76,230,460 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,227,723 - 76,230,460 (+)Ensembl
GRCm381576,343,513 - 76,346,260 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,343,523 - 76,346,260 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,173,953 - 76,176,364 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,170,778 - 76,173,189 (+)NCBImm8
Celera1577,843,584 - 77,845,995 (+)NCBICelera
Cytogenetic Map15D3NCBI
Cyc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,067,106 - 108,069,483 (+)NCBI
Rnor_6.0 Ensembl7117,409,576 - 117,411,953 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,409,576 - 117,411,953 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,397,206 - 117,399,583 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,394,178 - 114,396,563 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,428,409 - 114,430,788 (+)NCBI
Celera7104,419,433 - 104,421,810 (+)NCBICelera
Cytogenetic Map7q34NCBI
LOC102023109
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,758,292 - 2,760,376 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,758,935 - 2,760,569 (+)NCBIChiLan1.0ChiLan1.0
LOC100995886
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,853,354 - 143,855,847 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,853,354 - 143,855,847 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,861,432 - 140,863,900 (+)NCBIMhudiblu_PPA_v0panPan3
CYC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,590,919 - 37,593,239 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,590,912 - 37,593,156 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,554,629 - 37,556,933 (+)NCBI
ROS_Cfam_1.01338,067,159 - 38,069,463 (+)NCBI
UMICH_Zoey_3.11337,739,217 - 37,741,521 (+)NCBI
UNSW_CanFamBas_1.01337,867,897 - 37,870,201 (+)NCBI
UU_Cfam_GSD_1.01338,344,074 - 38,346,378 (+)NCBI
LOC101954680
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303656,692 - 659,079 (-)NCBI
SpeTri2.0NW_0049364708,082,791 - 8,085,197 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4606,516 - 608,996 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14606,510 - 608,991 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24759,649 - 762,119 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103237609
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,307,537 - 138,310,037 (+)NCBI
ChlSab1.1 Ensembl8138,307,581 - 138,312,915 (+)Ensembl
LOC101700825
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,724,670 - 12,727,035 (-)NCBI

Position Markers
RH11674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,152,204 - 145,152,333UniSTSGRCh37
Build 368145,224,192 - 145,224,321RGDNCBI36
Celera8141,489,721 - 141,489,850RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,428,081 - 140,428,210UniSTS
GeneMap99-GB4 RH Map8563.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1186
Count of miRNA genes:686
Interacting mature miRNAs:801
Transcripts:ENST00000318911, ENST00000525122, ENST00000528618, ENST00000533444
Prediction methods:Microtar, Miranda, Rnahybrid
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 6 1 51 1
Medium 2426 2976 1723 622 1936 464 4355 2192 3708 416 1397 1607 171 1204 2788 4
Low 4 13 1 13 1 2 17 2 6 2 4 1 2 1
Below cutoff 2 2 3 1 2 2 8 5 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE336714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG328536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ574597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN369438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR735564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ300360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318911   ⟹   ENSP00000317159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,095,076 - 144,097,525 (+)Ensembl
RefSeq Acc Id: ENST00000525122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,096,345 - 144,097,176 (+)Ensembl
RefSeq Acc Id: ENST00000528618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,095,486 - 144,096,515 (+)Ensembl
RefSeq Acc Id: ENST00000533444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,095,039 - 144,097,525 (+)Ensembl
RefSeq Acc Id: NM_001916   ⟹   NP_001907
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,095,076 - 144,097,525 (+)NCBI
GRCh378145,149,960 - 145,152,428 (+)ENTREZGENE
Build 368145,221,948 - 145,224,416 (+)NCBI Archive
HuRef8140,425,842 - 140,428,307 (+)NCBI
CHM1_18145,190,173 - 145,192,638 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013102   ⟹   XP_016868591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,095,106 - 144,097,525 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447072   ⟹   XP_024302840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,095,272 - 144,097,525 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001907   ⟸   NM_001916
- Peptide Label: precursor
- Sequence:
RefSeq Acc Id: XP_016868591   ⟸   XM_017013102
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024302840   ⟸   XM_024447072
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000317159   ⟸   ENST00000318911
Protein Domains
Cytochrome c

Promoters
RGD ID:7214427
Promoter ID:EPDNEW_H12960
Type:initiation region
Name:CYC1_1
Description:cytochrome c1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,095,076 - 144,095,136EPDNEW
RGD ID:6806585
Promoter ID:HG_KWN:62313
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:NM_001916,   UC003ZAY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,221,716 - 145,222,917 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001916.5(CYC1):c.288G>T (p.Trp96Cys) single nucleotide variant Mitochondrial complex III deficiency, nuclear type 6 [RCV000056262] Chr8:144095991 [GRCh38]
Chr8:145150894 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001916.5(CYC1):c.643C>T (p.Leu215Phe) single nucleotide variant Mitochondrial complex III deficiency, nuclear type 6 [RCV000056263]|not provided [RCV000417572] Chr8:144096615 [GRCh38]
Chr8:145151518 [GRCh37]
Chr8:8q24.3
pathogenic
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 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
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(chr8:241530-145054634)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
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
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 8q24.22-24.3(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(chr8:139236824-145068712)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 8q24.3(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 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 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
NM_001916.5(CYC1):c.613C>T (p.His205Tyr) single nucleotide variant not provided [RCV000224377] Chr8:144096585 [GRCh38]
Chr8:145151488 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001916.5(CYC1):c.227T>C (p.Met76Thr) single nucleotide variant not provided [RCV000224646]|not specified [RCV000616611] Chr8:144095930 [GRCh38]
Chr8:145150833 [GRCh37]
Chr8:8q24.3
likely benign
NM_001916.5(CYC1):c.33A>G (p.Val11=) single nucleotide variant not specified [RCV000604117] Chr8:144095132 [GRCh38]
Chr8:145150035 [GRCh37]
Chr8:8q24.3
likely 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
NM_001916.5(CYC1):c.547G>A (p.Glu183Lys) single nucleotide variant not provided [RCV000728213] Chr8:144096430 [GRCh38]
Chr8:145151333 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
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
NM_001916.5(CYC1):c.99T>G (p.Arg33=) single nucleotide variant not provided [RCV000676777]|not specified [RCV000420907] Chr8:144095198 [GRCh38]
Chr8:145150101 [GRCh37]
Chr8:8q24.3
benign
NM_001916.5(CYC1):c.681G>A (p.Leu227=) single nucleotide variant not specified [RCV000441633] Chr8:144096653 [GRCh38]
Chr8:145151556 [GRCh37]
Chr8:8q24.3
likely benign
NM_001916.5(CYC1):c.454-9C>T single nucleotide variant not provided [RCV000676779]|not specified [RCV000427815] Chr8:144096328 [GRCh38]
Chr8:145151231 [GRCh37]
Chr8:8q24.3
likely benign
NM_001916.5(CYC1):c.873+7G>A single nucleotide variant not specified [RCV000435075] Chr8:144097141 [GRCh38]
Chr8:145152044 [GRCh37]
Chr8:8q24.3
likely benign
NM_001916.5(CYC1):c.444G>C (p.Leu148=) single nucleotide variant not provided [RCV000676778]|not specified [RCV000422587] Chr8:144096241 [GRCh38]
Chr8:145151144 [GRCh37]
Chr8:8q24.3
benign
NM_001916.5(CYC1):c.960A>C (p.Ala320=) single nucleotide variant not provided [RCV000676780]|not specified [RCV000440956] Chr8:144097318 [GRCh38]
Chr8:145152221 [GRCh37]
Chr8:8q24.3
benign|likely benign
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 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_001916.5(CYC1):c.326+7_326+10del deletion not specified [RCV000479767] Chr8:144096036..144096039 [GRCh38]
Chr8:145150939..145150942 [GRCh37]
Chr8:8q24.3
likely benign
NM_001916.5(CYC1):c.772+19_772+45del deletion not specified [RCV000486568] Chr8:144096763..144096789 [GRCh38]
Chr8:145151666..145151692 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
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 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 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001916.5(CYC1):c.450G>A (p.Ala150=) single nucleotide variant not specified [RCV000601792] Chr8:144096247 [GRCh38]
Chr8:145151150 [GRCh37]
Chr8:8q24.3
likely benign
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(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
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 8q24.3(chr8:145101381-145161823)x3 copy number gain not provided [RCV000748007] Chr8:145101381..145161823 [GRCh37]
Chr8:8q24.3
benign
NM_001916.5(CYC1):c.949C>T (p.Arg317Trp) single nucleotide variant Mitochondrial complex III deficiency, nuclear type 6 [RCV001090127] Chr8:144097307 [GRCh38]
Chr8:145152210 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001916.5(CYC1):c.259C>T (p.Leu87=) single nucleotide variant not provided [RCV000909846] Chr8:144095962 [GRCh38]
Chr8:145150865 [GRCh37]
Chr8:8q24.3
likely benign
NM_001916.5(CYC1):c.192G>T (p.Leu64=) single nucleotide variant not provided [RCV000923159] Chr8:144095895 [GRCh38]
Chr8:145150798 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001916.5(CYC1):c.582C>G (p.Pro194=) single nucleotide variant not provided [RCV000841368] Chr8:144096465 [GRCh38]
Chr8:145151368 [GRCh37]
Chr8:8q24.3
likely benign
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001916.5(CYC1):c.327-4C>G single nucleotide variant not provided [RCV000841901] Chr8:144096120 [GRCh38]
Chr8:145151023 [GRCh37]
Chr8:8q24.3
likely benign
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 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
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 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 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
NM_001916.5(CYC1):c.960A>T (p.Ala320=) single nucleotide variant not provided [RCV000929929] Chr8:144097318 [GRCh38]
Chr8:145152221 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2579 AgrOrtholog
COSMIC CYC1 COSMIC
Ensembl Genes ENSG00000179091 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000317159 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000318911 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000533444 ENTREZGENE
Gene3D-CATH 1.10.760.10 UniProtKB/Swiss-Prot
GTEx ENSG00000179091 GTEx
HGNC ID HGNC:2579 ENTREZGENE
Human Proteome Map CYC1 Human Proteome Map
InterPro Cyt_c-like_dom_sf UniProtKB/Swiss-Prot
  Cyt_c1 UniProtKB/Swiss-Prot
  Cyt_c1_TM_anchor_C UniProtKB/Swiss-Prot
KEGG Report hsa:1537 UniProtKB/Swiss-Prot
NCBI Gene 1537 ENTREZGENE
OMIM 123980 OMIM
  615453 OMIM
PANTHER PTHR10266 UniProtKB/Swiss-Prot
Pfam Cytochrom_C1 UniProtKB/Swiss-Prot
PharmGKB PA27077 PharmGKB
PRINTS CYTOCHROMEC1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46626 UniProtKB/Swiss-Prot
  SSF81496 UniProtKB/Swiss-Prot
UniProt CY1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5U062 UniProtKB/Swiss-Prot
  Q6FHS7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 CYC1  cytochrome c1    cytochrome c-1  Symbol and/or name change 5135510 APPROVED