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:2579
Description: Predicted to enable heme binding activity; metal ion binding activity; and ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in membrane; mitochondrion; and nucleus. Part of mitochondrial inner membrane. Implicated in mitochondrial complex III deficiency nuclear type 6.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,095,076 - 144,097,525 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,095,039 - 144,097,525 (+)EnsemblGRCh38hg38GRCh38
GRCh378145,149,979 - 145,152,428 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,221,948 - 145,224,416 (+)NCBINCBI36Build 36hg18NCBI36
Build 348145,221,986 - 145,224,415NCBI
Celera8141,487,538 - 141,489,945 (+)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,425,864 - 140,428,305 (+)NCBIHuRef
CHM1_18145,190,195 - 145,192,636 (+)NCBICHM1_1
T2T-CHM13v2.08145,255,893 - 145,258,315 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetylsalicylic acid  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
Brodifacoum  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cobalt dichloride  (EXP)
cocaine  (EXP)
copper(II) sulfate  (EXP)
corosolic acid  (EXP)
cyclosporin A  (EXP)
deoxynivalenol  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
epoxiconazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
geraniol  (ISO)
guggulsterone  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
maneb  (ISO)
methimazole  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
ouabain  (EXP)
ozone  (EXP)
p-menthan-3-ol  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
probenecid  (ISO)
Pyridostigmine bromide  (ISO)
resveratrol  (ISO)
rotenone  (EXP,ISO)
sarin  (EXP)
sodium arsenite  (EXP)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
sunitinib  (ISO)
T-2 toxin  (ISO)
tamoxifen  (ISO)
thioacetamide  (EXP)
thiram  (EXP)
tolcapone  (ISO)
triphenyl phosphate  (EXP)
tungsten  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (HDA)
mitochondrial inner membrane  (IDA,IEA,ISO,TAS)
mitochondrion  (HDA,HTP,IEA,TAS)
nucleus  (HDA)
respiratory chain complex III  (IBA,IEA)

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2536365   PMID:2836796   PMID:2839188   PMID:2999105   PMID:3036122   PMID:6262312   PMID:8125298   PMID:8188279   PMID:10453733   PMID:12477932   PMID:12788227   PMID:14966123  
PMID:15146197   PMID:15489334   PMID:15544925   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:28844695   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:30884312   PMID:31073040   PMID:31149728   PMID:31527615  
PMID:31536960   PMID:31586073   PMID:31594818   PMID:31617661   PMID:31871319   PMID:31980649   PMID:32041737   PMID:32457219   PMID:32645484   PMID:32717223   PMID:32807901   PMID:32814053  
PMID:32877691   PMID:33499712   PMID:33545068   PMID:33766124   PMID:33961781   PMID:34079125   PMID:34315543   PMID:34316702   PMID:34373451   PMID:34578187   PMID:34800366   PMID:35063084  
PMID:35235311   PMID:35241646   PMID:35256949   PMID:35906200   PMID:35918402   PMID:35944360   PMID:36042349   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36273042   PMID:36305765  
PMID:36373674   PMID:36575184   PMID:36597993   PMID:36774506   PMID:37071682   PMID:37167062   PMID:37267103   PMID:37317656   PMID:37616343   PMID:37827155   PMID:38113892   PMID:38697112  
PMID:39147351  


Genomics

Comparative Map Data
CYC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388144,095,076 - 144,097,525 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8144,095,039 - 144,097,525 (+)EnsemblGRCh38hg38GRCh38
GRCh378145,149,979 - 145,152,428 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,221,948 - 145,224,416 (+)NCBINCBI36Build 36hg18NCBI36
Build 348145,221,986 - 145,224,415NCBI
Celera8141,487,538 - 141,489,945 (+)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,425,864 - 140,428,305 (+)NCBIHuRef
CHM1_18145,190,195 - 145,192,636 (+)NCBICHM1_1
T2T-CHM13v2.08145,255,893 - 145,258,315 (+)NCBIT2T-CHM13v2.0
Cyc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,227,711 - 76,230,460 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,227,723 - 76,230,460 (+)EnsemblGRCm39 Ensembl
GRCm381576,343,513 - 76,346,260 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,343,523 - 76,346,260 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,173,953 - 76,176,364 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361576,170,778 - 76,173,189 (+)NCBIMGSCv36mm8
Celera1577,843,584 - 77,845,995 (+)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1535.74NCBI
Cyc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87109,947,750 - 109,950,142 (+)NCBIGRCr8
mRatBN7.27108,067,106 - 108,069,483 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7108,067,115 - 108,069,479 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7109,810,759 - 109,813,136 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07112,034,453 - 112,036,830 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07111,992,914 - 111,995,283 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07117,409,576 - 117,411,953 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,409,576 - 117,411,953 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,397,206 - 117,399,583 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,394,178 - 114,396,563 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v27161,584,643 - 161,587,163 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18137,114,566 - 137,117,043 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08140,861,432 - 140,863,900 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18143,853,354 - 143,855,847 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,853,354 - 143,855,847 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01338,067,159 - 38,069,463 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1338,053,345 - 38,069,424 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11337,739,217 - 37,741,521 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01337,867,897 - 37,870,201 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01338,344,074 - 38,346,378 (+)NCBIUU_Cfam_GSD_1.0
LOC101954680
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303656,692 - 659,079 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364708,082,791 - 8,085,185 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,307,537 - 138,310,037 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,307,581 - 138,312,915 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660391,562,941 - 1,565,856 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101700825
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473512,724,670 - 12,727,120 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473512,724,670 - 12,727,035 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYC1
101 total Variants

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]|not specified [RCV004609328] 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] Chr8:144095930 [GRCh38]
Chr8:145150833 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_001916.5(CYC1):c.33A>G (p.Val11=) single nucleotide variant not provided [RCV001704707] 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 Mitochondrial complex III deficiency nuclear type 6 [RCV001662376]|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] Chr8:144096328 [GRCh38]
Chr8:145151231 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.873+7G>A single nucleotide variant CYC1-related disorder [RCV003922822]|Mitochondrial complex III deficiency nuclear type 6 [RCV002502570]|not provided [RCV002063462]|not specified [RCV000435075] Chr8:144097141 [GRCh38]
Chr8:145152044 [GRCh37]
Chr8:8q24.3		 benign|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 CYC1-related disorder [RCV003912667]|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 provided [RCV002525864]|not specified [RCV000479767] Chr8:144096036..144096039 [GRCh38]
Chr8:145150939..145150942 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_001916.5(CYC1):c.772+19_772+45del deletion not provided [RCV002063705]|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 CYC1-related disorder [RCV003935705]|not provided [RCV001698466] 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.*131T>C single nucleotide variant not provided [RCV001583117] Chr8:144097467 [GRCh38]
Chr8:145152370 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.284C>T (p.Pro95Leu) single nucleotide variant not specified [RCV004304065] Chr8:144095987 [GRCh38]
Chr8:145150890 [GRCh37]
Chr8:8q24.3		 uncertain significance
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 8q24.3 microdeletion syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_001916.5(CYC1):c.259C>T (p.Leu87=) single nucleotide variant CYC1-related disorder [RCV003950713]|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 5B, 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.140T>G (p.Leu47Trp) single nucleotide variant not specified [RCV004313153] Chr8:144095843 [GRCh38]
Chr8:145150746 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.773-27T>C single nucleotide variant not provided [RCV001616822] Chr8:144097007 [GRCh38]
Chr8:145151910 [GRCh37]
Chr8:8q24.3		 benign
NC_000008.11:g.144097552G>A single nucleotide variant not provided [RCV001597799] Chr8:144097552 [GRCh38]
Chr8:145152455 [GRCh37]
Chr8:8q24.3		 benign
NM_001916.5(CYC1):c.226A>G (p.Met76Val) single nucleotide variant Mitochondrial complex III deficiency nuclear type 6 [RCV001661344]|not provided [RCV002073076] Chr8:144095929 [GRCh38]
Chr8:145150832 [GRCh37]
Chr8:8q24.3		 benign
NM_001916.5(CYC1):c.773-113G>A single nucleotide variant not provided [RCV001551930] Chr8:144096921 [GRCh38]
Chr8:145151824 [GRCh37]
Chr8:8q24.3		 likely benign
NC_000008.11:g.144097549A>G single nucleotide variant not provided [RCV001676798] Chr8:144097549 [GRCh38]
Chr8:145152452 [GRCh37]
Chr8:8q24.3		 benign
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
NM_001916.5(CYC1):c.456_461dupGGAGGT duplication not provided [RCV001578071] Chr8:144096334..144096335 [GRCh38]
Chr8:145151237..145151238 [GRCh37]
Chr8:8q24.3		 likely benign
NC_000008.11:g.144094957A>G single nucleotide variant not provided [RCV001656484] Chr8:144094957 [GRCh38]
Chr8:145149860 [GRCh37]
Chr8:8q24.3		 benign
NC_000008.11:g.144094920G>T single nucleotide variant not provided [RCV001716200] Chr8:144094920 [GRCh38]
Chr8:145149823 [GRCh37]
Chr8:8q24.3		 benign
NM_001916.5(CYC1):c.35T>C (p.Val12Ala) single nucleotide variant not provided [RCV001585233]|not specified [RCV004039497] Chr8:144095134 [GRCh38]
Chr8:145150037 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.772+19_772+46delinsC indel not provided [RCV001714551] Chr8:144096763..144096790 [GRCh38]
Chr8:145151666..145151693 [GRCh37]
Chr8:8q24.3		 benign
NC_000008.11:g.144094945G>A single nucleotide variant not provided [RCV001580897] Chr8:144094945 [GRCh38]
Chr8:145149848 [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
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 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
NC_000008.11:g.144097557C>G single nucleotide variant not provided [RCV001652131] Chr8:144097557 [GRCh38]
Chr8:145152460 [GRCh37]
Chr8:8q24.3		 benign
NM_001916.5(CYC1):c.264G>C (p.Glu88Asp) single nucleotide variant not provided [RCV001587118] Chr8:144095967 [GRCh38]
Chr8:145150870 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.772+22_772+46del deletion not provided [RCV001619118] Chr8:144096766..144096790 [GRCh38]
Chr8:145151669..145151693 [GRCh37]
Chr8:8q24.3		 benign
NM_001916.5(CYC1):c.772+19_772+20del deletion Mitochondrial complex III deficiency nuclear type 6 [RCV001661345]|not provided [RCV001673232] Chr8:144096763..144096764 [GRCh38]
Chr8:145151666..145151667 [GRCh37]
Chr8:8q24.3		 benign
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_001916.5(CYC1):c.907G>C (p.Val303Leu) single nucleotide variant not provided [RCV001806658] Chr8:144097265 [GRCh38]
Chr8:145152168 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144725942-145508436) copy number gain not specified [RCV002053804] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144990345)_(145584675_?)dup duplication not provided [RCV001940184] Chr8:144990345..145584675 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.923G>A (p.Arg308Gln) single nucleotide variant not provided [RCV001997327] Chr8:144097281 [GRCh38]
Chr8:145152184 [GRCh37]
Chr8:8q24.3		 uncertain significance
NC_000008.10:g.(?_144295143)_(145701139_?)del deletion Brown-Vialetto-van Laere syndrome 2 [RCV001939634]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001962911] Chr8:144295143..145701139 [GRCh37]
Chr8:8q24.3		 pathogenic
NC_000008.10:g.(?_143822561)_(145743168_?)dup duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3		 uncertain significance|no classifications from unflagged records
NM_001916.5(CYC1):c.688G>A (p.Gly230Ser) single nucleotide variant not provided [RCV001953212]|not specified [RCV004043204] Chr8:144096660 [GRCh38]
Chr8:145151563 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.867G>A (p.Gly289=) single nucleotide variant CYC1-related disorder [RCV003903483]|not provided [RCV002110903] Chr8:144097128 [GRCh38]
Chr8:145152031 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.711T>C (p.Phe237=) single nucleotide variant not provided [RCV002209908] Chr8:144096683 [GRCh38]
Chr8:145151586 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.226= (p.Met76=) variation not provided [RCV002209537] Chr8:144095929 [GRCh38]
Chr8:145150832 [GRCh37]
Chr8:8q24.3		 benign
NM_001916.5(CYC1):c.454-7del deletion CYC1-related disorder [RCV003958610]|not provided [RCV002215723] Chr8:144096329 [GRCh38]
Chr8:145151232 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.773-18C>G single nucleotide variant not provided [RCV002124551] Chr8:144097016 [GRCh38]
Chr8:145151919 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.226_227delinsGC (p.Met76Ala) indel not provided [RCV002115557] Chr8:144095929..144095930 [GRCh38]
Chr8:145150832..145150833 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NM_001916.5(CYC1):c.630C>T (p.Tyr210=) single nucleotide variant not provided [RCV003115005] Chr8:144096602 [GRCh38]
Chr8:145151505 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.517G>A (p.Asp173Asn) single nucleotide variant not provided [RCV003119045] Chr8:144096400 [GRCh38]
Chr8:145151303 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.571G>A (p.Gly191Arg) single nucleotide variant not specified [RCV004608379] Chr8:144096454 [GRCh38]
Chr8:145151357 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.28G>C (p.Gly10Arg) single nucleotide variant not provided [RCV003149247] Chr8:144095127 [GRCh38]
Chr8:145150030 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_001916.5(CYC1):c.772+2dup duplication not provided [RCV002306189] Chr8:144096745..144096746 [GRCh38]
Chr8:145151648..145151649 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.952A>C (p.Lys318Gln) single nucleotide variant not provided [RCV002305917] Chr8:144097310 [GRCh38]
Chr8:145152213 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.216G>C (p.Ala72=) single nucleotide variant not provided [RCV003011949] Chr8:144095919 [GRCh38]
Chr8:145150822 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.275C>T (p.Pro92Leu) single nucleotide variant not specified [RCV004126083] Chr8:144095978 [GRCh38]
Chr8:145150881 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.301CTC[1] (p.Leu102del) microsatellite not provided [RCV002975397] Chr8:144096003..144096005 [GRCh38]
Chr8:145150906..145150908 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.648G>A (p.Thr216=) single nucleotide variant not provided [RCV002974824] Chr8:144096620 [GRCh38]
Chr8:145151523 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.132A>C (p.Ala44=) single nucleotide variant not provided [RCV002839235] Chr8:144095835 [GRCh38]
Chr8:145150738 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.72T>C (p.Arg24=) single nucleotide variant CYC1-related disorder [RCV003916527]|not provided [RCV002755469] Chr8:144095171 [GRCh38]
Chr8:145150074 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.638C>T (p.Ser213Phe) single nucleotide variant not specified [RCV004116726] Chr8:144096610 [GRCh38]
Chr8:145151513 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.516C>T (p.Phe172=) single nucleotide variant not provided [RCV002639481] Chr8:144096399 [GRCh38]
Chr8:145151302 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.727G>A (p.Ala243Thr) single nucleotide variant not provided [RCV002621780] Chr8:144096699 [GRCh38]
Chr8:145151602 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.596A>T (p.Tyr199Phe) single nucleotide variant not provided [RCV002705421] Chr8:144096479 [GRCh38]
Chr8:145151382 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.245T>A (p.Val82Glu) single nucleotide variant not provided [RCV002705727] Chr8:144095948 [GRCh38]
Chr8:145150851 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.917T>C (p.Ile306Thr) single nucleotide variant not specified [RCV004151875] Chr8:144097275 [GRCh38]
Chr8:145152178 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.511C>T (p.Leu171=) single nucleotide variant not provided [RCV002658539] Chr8:144096394 [GRCh38]
Chr8:145151297 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.125C>T (p.Pro42Leu) single nucleotide variant not provided [RCV002621543]|not specified [RCV004065773] Chr8:144095224 [GRCh38]
Chr8:145150127 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.772+15G>A single nucleotide variant not provided [RCV002570137] Chr8:144096759 [GRCh38]
Chr8:145151662 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.302T>G (p.Leu101Arg) single nucleotide variant not specified [RCV004183054] Chr8:144096005 [GRCh38]
Chr8:145150908 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.117A>G (p.Leu39=) single nucleotide variant not provided [RCV002760967] Chr8:144095216 [GRCh38]
Chr8:145150119 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.874-5T>C single nucleotide variant not provided [RCV002870745] Chr8:144097227 [GRCh38]
Chr8:145152130 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.603G>A (p.Val201=) single nucleotide variant not provided [RCV002622467] Chr8:144096486 [GRCh38]
Chr8:145151389 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.253A>G (p.Ser85Gly) single nucleotide variant not provided [RCV002828924] Chr8:144095956 [GRCh38]
Chr8:145150859 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.11C>T (p.Ala4Val) single nucleotide variant Mitochondrial complex III deficiency nuclear type 6 [RCV003146584]|not provided [RCV002576388]|not specified [RCV004064398] Chr8:144095110 [GRCh38]
Chr8:145150013 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.323C>A (p.Thr108Asn) single nucleotide variant CYC1-related disorder [RCV003916657]|not provided [RCV002958206] Chr8:144096026 [GRCh38]
Chr8:145150929 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
NM_001916.5(CYC1):c.79G>A (p.Gly27Ser) single nucleotide variant not provided [RCV003777753]|not specified [RCV004115104] Chr8:144095178 [GRCh38]
Chr8:145150081 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.769G>C (p.Asp257His) single nucleotide variant not specified [RCV004229352] Chr8:144096741 [GRCh38]
Chr8:145151644 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.357G>C (p.Gln119His) single nucleotide variant not specified [RCV004130848] Chr8:144096154 [GRCh38]
Chr8:145151057 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.258C>T (p.Asp86=) single nucleotide variant not provided [RCV003056461] Chr8:144095961 [GRCh38]
Chr8:145150864 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.669C>T (p.Thr223=) single nucleotide variant not provided [RCV003082656] Chr8:144096641 [GRCh38]
Chr8:145151544 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.554C>T (p.Ala185Val) single nucleotide variant not specified [RCV004154525] Chr8:144096437 [GRCh38]
Chr8:145151340 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.683G>A (p.Arg228Gln) single nucleotide variant not provided [RCV002625256] Chr8:144096655 [GRCh38]
Chr8:145151558 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.130-17G>T single nucleotide variant not provided [RCV002580155] Chr8:144095816 [GRCh38]
Chr8:145150719 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.670G>A (p.Gly224Arg) single nucleotide variant not provided [RCV002943781]|not specified [RCV004068114] Chr8:144096642 [GRCh38]
Chr8:145151545 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.625G>A (p.Asp209Asn) single nucleotide variant not provided [RCV002922314]|not specified [RCV004066300] Chr8:144096597 [GRCh38]
Chr8:145151500 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.476A>G (p.Asn159Ser) single nucleotide variant not provided [RCV003063321] Chr8:144096359 [GRCh38]
Chr8:145151262 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.798A>C (p.Ile266=) single nucleotide variant not provided [RCV002599951] Chr8:144097059 [GRCh38]
Chr8:145151962 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.241G>A (p.Ala81Thr) single nucleotide variant not specified [RCV004135202] Chr8:144095944 [GRCh38]
Chr8:145150847 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.47G>C (p.Arg16Pro) single nucleotide variant not provided [RCV002604417] Chr8:144095146 [GRCh38]
Chr8:145150049 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.168C>T (p.Gly56=) single nucleotide variant not provided [RCV003093039] Chr8:144095871 [GRCh38]
Chr8:145150774 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.657C>T (p.Cys219=) single nucleotide variant not provided [RCV002943503] Chr8:144096629 [GRCh38]
Chr8:145151532 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.922C>T (p.Arg308Trp) single nucleotide variant not provided [RCV002635445] Chr8:144097280 [GRCh38]
Chr8:145152183 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.691C>T (p.Leu231Phe) single nucleotide variant not specified [RCV004277717] Chr8:144096663 [GRCh38]
Chr8:145151566 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.13G>A (p.Ala5Thr) single nucleotide variant not specified [RCV004250930] Chr8:144095112 [GRCh38]
Chr8:145150015 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.796A>C (p.Ile266Leu) single nucleotide variant not specified [RCV004362457] Chr8:144097057 [GRCh38]
Chr8:145151960 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.824G>A (p.Arg275His) single nucleotide variant not provided [RCV003825454] Chr8:144097085 [GRCh38]
Chr8:145151988 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.874-19G>A single nucleotide variant not provided [RCV003872943] Chr8:144097213 [GRCh38]
Chr8:145152116 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3 copy number gain not provided [RCV003484758] Chr8:145080420..146258478 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.486G>C (p.Gly162=) single nucleotide variant not provided [RCV003435644] Chr8:144096369 [GRCh38]
Chr8:145151272 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.744C>A (p.Ile248=) single nucleotide variant not provided [RCV003423992] Chr8:144096716 [GRCh38]
Chr8:145151619 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.129+19C>T single nucleotide variant not provided [RCV003830224] Chr8:144095247 [GRCh38]
Chr8:145150150 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.597C>T (p.Tyr199=) single nucleotide variant not provided [RCV003829528] Chr8:144096480 [GRCh38]
Chr8:145151383 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.326+15_326+16insACTG insertion not provided [RCV003824953] Chr8:144096041..144096042 [GRCh38]
Chr8:145150944..145150945 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.631G>A (p.Val211Ile) single nucleotide variant not provided [RCV003739665] Chr8:144096603 [GRCh38]
Chr8:145151506 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.772+7G>A single nucleotide variant not provided [RCV003578228] Chr8:144096751 [GRCh38]
Chr8:145151654 [GRCh37]
Chr8:8q24.3		 benign
NM_001916.5(CYC1):c.34G>C (p.Val12Leu) single nucleotide variant not provided [RCV003826358] Chr8:144095133 [GRCh38]
Chr8:145150036 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.854G>A (p.Arg285Gln) single nucleotide variant not provided [RCV003852616] Chr8:144097115 [GRCh38]
Chr8:145152018 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.810G>A (p.Val270=) single nucleotide variant not provided [RCV003659291] Chr8:144097071 [GRCh38]
Chr8:145151974 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.276dup (p.Ser93fs) duplication not provided [RCV003836695] Chr8:144095972..144095973 [GRCh38]
Chr8:145150875..145150876 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.154G>C (p.Gly52Arg) single nucleotide variant not provided [RCV003725293] Chr8:144095857 [GRCh38]
Chr8:145150760 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.773-18C>T single nucleotide variant not provided [RCV003833135] Chr8:144097016 [GRCh38]
Chr8:145151919 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.873+14G>A single nucleotide variant not provided [RCV003842868] Chr8:144097148 [GRCh38]
Chr8:145152051 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.611+15C>T single nucleotide variant not provided [RCV003819160] Chr8:144096509 [GRCh38]
Chr8:145151412 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 copy number gain not specified [RCV003986763] Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.95C>G (p.Ala32Gly) single nucleotide variant not provided [RCV003675407] Chr8:144095194 [GRCh38]
Chr8:145150097 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.612-16A>G single nucleotide variant not provided [RCV003674762] Chr8:144096568 [GRCh38]
Chr8:145151471 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.860G>A (p.Arg287His) single nucleotide variant not provided [RCV003844515]|not specified [RCV004614549] Chr8:144097121 [GRCh38]
Chr8:145152024 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.772+19G>C single nucleotide variant not provided [RCV003821017] Chr8:144096763 [GRCh38]
Chr8:145151666 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001916.5(CYC1):c.617G>A (p.Gly206Asp) single nucleotide variant not specified [RCV004367696] Chr8:144096589 [GRCh38]
Chr8:145151492 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.877T>G (p.Leu293Val) single nucleotide variant not specified [RCV004367697] Chr8:144097235 [GRCh38]
Chr8:145152138 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_001916.5(CYC1):c.887T>C (p.Met296Thr) single nucleotide variant not specified [RCV004367699] Chr8:144097245 [GRCh38]
Chr8:145152148 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.886A>G (p.Met296Val) single nucleotide variant not specified [RCV004367698] Chr8:144097244 [GRCh38]
Chr8:145152147 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3 copy number gain not provided [RCV004577489] Chr8:145033578..146296885 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001916.5(CYC1):c.326+1G>C single nucleotide variant not specified [RCV004700019] Chr8:144096030 [GRCh38]
Chr8:145150933 [GRCh37]
Chr8:8q24.3		 uncertain significance
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.

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4971 1726 2351 6 624 1951 465 2268 7303 6470 53 3733 1 851 1743 1617 175 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
  CP068270 (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

Ensembl Acc Id: ENST00000318911   ⟹   ENSP00000317159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,095,076 - 144,097,525 (+)Ensembl
Ensembl Acc Id: ENST00000525122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,096,345 - 144,097,176 (+)Ensembl
Ensembl Acc Id: ENST00000528618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8144,095,486 - 144,096,515 (+)Ensembl
Ensembl Acc Id: ENST00000533444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.08145,255,893 - 145,258,315 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001907   ⟸   NM_001916
- Peptide Label: precursor
- UniProtKB: Q5U062 (UniProtKB/Swiss-Prot),   P08574 (UniProtKB/Swiss-Prot),   Q6FHS7 (UniProtKB/Swiss-Prot),   Q8TBT6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000317159   ⟸   ENST00000318911
Protein Domains
Cytochrome c

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P08574-F1-model_v2 AlphaFold P08574 1-325 view protein structure

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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2579 AgrOrtholog
COSMIC CYC1 COSMIC
Ensembl Genes ENSG00000179091 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000318911 ENTREZGENE
  ENST00000318911.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.760.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cytochrome c1, transmembrane anchor, C-terminal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179091 GTEx
HGNC ID HGNC:2579 ENTREZGENE
Human Proteome Map CYC1 Human Proteome Map
InterPro Cyt_c-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c1_TM_anchor_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1537 UniProtKB/Swiss-Prot
NCBI Gene 1537 ENTREZGENE
OMIM 123980 OMIM
PANTHER CYTOCHROME C1 UniProtKB/TrEMBL
  CYTOCHROME C1, HEME PROTEIN, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10266 UniProtKB/Swiss-Prot
Pfam Cytochrom_C1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27077 PharmGKB
PRINTS CYTOCHROMEC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Cytochrome c UniProtKB/TrEMBL
  Cytochrome c1 subunit of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase), transmembrane anchor UniProtKB/TrEMBL
  SSF46626 UniProtKB/Swiss-Prot
  SSF81496 UniProtKB/Swiss-Prot
UniProt CY1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5U062 ENTREZGENE
  Q6FHS7 ENTREZGENE
  Q8TBT6 ENTREZGENE, UniProtKB/TrEMBL
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