UQCC4 (ubiquinol-cytochrome c reductase complex assembly factor 4) - Rat Genome Database

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Gene: UQCC4 (ubiquinol-cytochrome c reductase complex assembly factor 4) Homo sapiens
Analyze
Symbol: UQCC4
Name: ubiquinol-cytochrome c reductase complex assembly factor 4
RGD ID: 1605551
HGNC Page HGNC:27558
Description: Predicted to be involved in mitochondrial respiratory chain complex III assembly. Predicted to be located in mitochondrial inner membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C16orf91; cattle cerebrum and skeletal muscle-specific protein 1 family member; CCSMST1; chromosome 16 open reading frame 91; gs103; MGC104723; ubiquinol-cytochrome-c reductase complex assembly factor 4; up-regulated in lung cancer 5; URLC5
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
GRCh38161,419,752 - 1,420,747 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,419,752 - 1,420,756 (-)EnsemblGRCh38hg38GRCh38
GRCh37161,469,753 - 1,470,748 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,409,945 - 1,419,346 (-)NCBINCBI36Build 36hg18NCBI36
Celera161,682,542 - 1,691,944 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,396,115 - 1,397,171 (-)NCBIHuRef
CHM1_1161,469,680 - 1,470,736 (-)NCBICHM1_1
T2T-CHM13v2.0161,434,364 - 1,435,359 (-)NCBIT2T-CHM13v2.0
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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11157797   PMID:12477932   PMID:28514442   PMID:33060197   PMID:33961781   PMID:35977508  


Genomics

Comparative Map Data
UQCC4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38161,419,752 - 1,420,747 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl161,419,752 - 1,420,756 (-)EnsemblGRCh38hg38GRCh38
GRCh37161,469,753 - 1,470,748 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36161,409,945 - 1,419,346 (-)NCBINCBI36Build 36hg18NCBI36
Celera161,682,542 - 1,691,944 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef161,396,115 - 1,397,171 (-)NCBIHuRef
CHM1_1161,469,680 - 1,470,736 (-)NCBICHM1_1
T2T-CHM13v2.0161,434,364 - 1,435,359 (-)NCBIT2T-CHM13v2.0
Uqcc4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391725,403,535 - 25,406,636 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1725,403,528 - 25,406,636 (+)EnsemblGRCm39 Ensembl
GRCm381725,184,561 - 25,187,662 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1725,184,554 - 25,187,662 (+)EnsemblGRCm38mm10GRCm38
MGSCv371725,321,506 - 25,324,607 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361724,911,856 - 24,915,262 (+)NCBIMGSCv36mm8
Celera1725,714,046 - 25,717,160 (+)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.53NCBI
Uqcc4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81014,706,720 - 14,708,022 (+)NCBIGRCr8
mRatBN7.21014,202,217 - 14,203,519 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1014,202,243 - 14,204,029 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1018,943,286 - 18,944,588 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01018,432,146 - 18,433,448 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01013,931,362 - 13,932,664 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01014,543,196 - 14,544,498 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1014,543,200 - 14,545,000 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01014,358,284 - 14,359,586 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41014,429,984 - 14,431,286 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1013,874,939 - 13,876,241 (+)NCBICelera
Cytogenetic Map10q12NCBI
LOC102009553
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,820,753 - 15,825,390 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,820,684 - 15,821,784 (+)NCBIChiLan1.0ChiLan1.0
LOC100990880
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2181,681,724 - 1,683,312 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1165,469,079 - 5,470,678 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01639,543 - 41,134 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1161,474,158 - 1,475,205 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl161,474,158 - 1,475,201 (-)Ensemblpanpan1.1panPan2
UQCC4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,372,695 - 39,375,081 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,373,227 - 39,373,821 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,641,272 - 40,643,057 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0639,719,554 - 39,721,339 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl639,719,638 - 39,721,294 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1639,396,529 - 39,398,314 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0639,368,997 - 39,370,783 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0639,847,422 - 39,849,208 (+)NCBIUU_Cfam_GSD_1.0
CUNH16orf91
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,224,451 - 104,225,429 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366942,483,632 - 2,485,712 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366942,484,092 - 2,485,012 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UQCC4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl340,440,051 - 40,441,281 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1340,439,419 - 40,441,209 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2342,082,443 - 42,083,457 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH16orf91
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,308,401 - 1,309,898 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606829,777,074 - 29,778,158 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH16orf91
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249132,118,207 - 2,119,306 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249132,117,412 - 2,119,350 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 copy number gain See cases [RCV000052373] Chr16:1221651..2233773 [GRCh38]
Chr16:1271651..2283774 [GRCh37]
Chr16:1211652..2223775 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3 copy number gain See cases [RCV000052375] Chr16:1278821..1919148 [GRCh38]
Chr16:1328822..1969149 [GRCh37]
Chr16:1268823..1909150 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 copy number loss See cases [RCV000053251] Chr16:23141..1773349 [GRCh38]
Chr16:73141..1823350 [GRCh37]
Chr16:13141..1763351 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 copy number loss See cases [RCV000053252] Chr16:23141..1712523 [GRCh38]
Chr16:73141..1762524 [GRCh37]
Chr16:13141..1702525 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 copy number loss See cases [RCV000053267] Chr16:105429..1499893 [GRCh38]
Chr16:155427..1549894 [GRCh37]
Chr16:95427..1489895 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1544014)x1 copy number loss See cases [RCV000134917] Chr16:46766..1544014 [GRCh38]
Chr16:96766..1594015 [GRCh37]
Chr16:36766..1534016 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:1257541-1436509)x1 copy number loss See cases [RCV000136187] Chr16:1257541..1436509 [GRCh38]
Chr16:1307542..1486510 [GRCh37]
Chr16:1247543..1426511 [NCBI36]
Chr16:16p13.3		 benign
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 copy number loss See cases [RCV000239415] Chr16:88165..1715454 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1 copy number loss See cases [RCV000240294] Chr16:72769..1511716 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1498731)x1 copy number loss not provided [RCV000683740] Chr16:85880..1498731 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1383327-1497403)x3 copy number gain not provided [RCV000751508] Chr16:1383327..1497403 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:1397815-1499377)x3 copy number gain not provided [RCV000751509] Chr16:1397815..1499377 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 copy number loss not provided [RCV000751445] Chr16:61451..1593645 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_1203718)_(2185710_?)del deletion Tuberous sclerosis 2 [RCV001033886] Chr16:1203718..2185710 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1233996-1509217)x3 copy number gain not provided [RCV001259760] Chr16:1233996..1509217 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1843653_?)del deletion Idiopathic generalized epilepsy [RCV003109815] Chr16:256302..1843653 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1657267_?)del deletion Saldino-Mainzer syndrome [RCV003116765]|not provided [RCV003116766] Chr16:256302..1657267 [GRCh37]
Chr16:16p13.3		 pathogenic|no classifications from unflagged records
NC_000016.9:g.(?_256302)_(1918176_?)del deletion not provided [RCV003119703] Chr16:256302..1918176 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3 copy number gain not provided [RCV002473769] Chr16:1129080..2021055 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1 copy number loss not provided [RCV003222891] Chr16:811896..2130379 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 copy number loss not provided [RCV003483253] Chr16:85881..1657611 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 copy number gain not provided [RCV003485080] Chr16:1054247..2592737 [GRCh37]
Chr16:16p13.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:575
Count of miRNA genes:268
Interacting mature miRNAs:276
Transcripts:ENST00000310355, ENST00000442039, ENST00000563974
Prediction methods: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
RH47026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37161,469,804 - 1,469,980UniSTSGRCh37
Build 36161,409,805 - 1,409,981RGDNCBI36
Celera161,682,402 - 1,682,578RGD
Cytogenetic Map16p13.3UniSTS
HuRef161,396,174 - 1,396,350UniSTS
GeneMap99-GB4 RH Map1645.24UniSTS


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 2210 1598 1404 289 1138 190 3938 1586 2795 326 1401 1407 116 1072 2432 4
Low 229 1386 322 335 805 275 419 611 939 93 59 206 59 1 132 356 2 2
Below cutoff 7 7

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000442039   ⟹   ENSP00000413100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,419,752 - 1,420,747 (-)Ensembl
RefSeq Acc Id: ENST00000563974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl161,419,752 - 1,420,756 (-)Ensembl
RefSeq Acc Id: NM_001272051   ⟹   NP_001258980
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,419,752 - 1,420,747 (-)NCBI
HuRef161,396,115 - 1,397,171 (-)NCBI
CHM1_1161,469,680 - 1,470,736 (-)NCBI
T2T-CHM13v2.0161,434,364 - 1,435,359 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001258980   ⟸   NM_001272051
- Peptide Label: precursor
- UniProtKB: Q96RZ0 (UniProtKB/Swiss-Prot),   Q4G0I0 (UniProtKB/Swiss-Prot),   A0A0A8K8N9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000413100   ⟸   ENST00000442039

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4G0I0-F1-model_v2 AlphaFold Q4G0I0 1-132 view protein structure

Promoters
RGD ID:6792879
Promoter ID:HG_KWN:22695
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:UC002CLR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36161,410,631 - 1,411,207 (-)MPROMDB
RGD ID:7230903
Promoter ID:EPDNEW_H21196
Type:initiation region
Name:C16orf91_1
Description:chromosome 16 open reading frame 91
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21197  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,420,744 - 1,420,804EPDNEW
RGD ID:7230901
Promoter ID:EPDNEW_H21197
Type:initiation region
Name:C16orf91_2
Description:chromosome 16 open reading frame 91
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21196  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38161,421,135 - 1,421,195EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27558 AgrOrtholog
COSMIC UQCC4 COSMIC
Ensembl Genes ENSG00000174109 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000442039 ENTREZGENE
  ENST00000442039.3 UniProtKB/Swiss-Prot
GTEx ENSG00000174109 GTEx
HGNC ID HGNC:27558 ENTREZGENE
Human Proteome Map UQCC4 Human Proteome Map
InterPro CCSMST1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CCSMST1_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:283951 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 283951 ENTREZGENE
OMIM 620578 OMIM
PANTHER PROTEIN CCSMST1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR35268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CCSMST1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164716853 PharmGKB
PRINTS CCSMST1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A8K8N9 ENTREZGENE, UniProtKB/TrEMBL
  CSMT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96RZ0 ENTREZGENE
UniProt Secondary Q96RZ0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-09-26 UQCC4  ubiquinol-cytochrome c reductase complex assembly factor 4  C16orf91  chromosome 16 open reading frame 91  Symbol and/or name change 19259463 PROVISIONAL