PET100 (PET100 cytochrome c oxidase chaperone) - Rat Genome Database

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Gene: PET100 (PET100 cytochrome c oxidase chaperone) Homo sapiens
Analyze
Symbol: PET100
Name: PET100 cytochrome c oxidase chaperone
RGD ID: 5135069
HGNC Page HGNC:40038
Description: Predicted to enable unfolded protein binding activity. Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Implicated in mitochondrial complex IV deficiency nuclear type 12.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C19orf79; FLJ42727; hypothetical protein LOC100131801; MC4DN12; PET100 homolog; protein PET100 homolog, mitochondrial; uncharacterized protein C19orf79
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PET100P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38197,629,793 - 7,631,956 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl197,629,711 - 7,631,956 (+)Ensemblhg38GRCh38
GRCh37197,694,679 - 7,696,842 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,600,677 - 7,602,961 (+)NCBIBuild 36Build 36hg18NCBI36
Celera197,565,855 - 7,567,694 (+)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef197,364,339 - 7,366,226 (+)NCBIHuRef
CHM1_1197,694,422 - 7,696,261 (+)NCBICHM1_1
T2T-CHM13v2.0197,630,676 - 7,632,839 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:16712791   PMID:21873635   PMID:22356826   PMID:24462369   PMID:26425749   PMID:28199844   PMID:34373451   PMID:34800366  


Genomics

Comparative Map Data
PET100
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38197,629,793 - 7,631,956 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl197,629,711 - 7,631,956 (+)Ensemblhg38GRCh38
GRCh37197,694,679 - 7,696,842 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,600,677 - 7,602,961 (+)NCBIBuild 36Build 36hg18NCBI36
Celera197,565,855 - 7,567,694 (+)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef197,364,339 - 7,366,226 (+)NCBIHuRef
CHM1_1197,694,422 - 7,696,261 (+)NCBICHM1_1
T2T-CHM13v2.0197,630,676 - 7,632,839 (+)NCBIT2T-CHM13v2.0
Pet100
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3983,671,551 - 3,674,235 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl83,671,548 - 3,675,848 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm3883,621,551 - 3,624,235 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl83,621,548 - 3,625,848 (+)Ensemblmm10GRCm38
MGSCv3783,621,554 - 3,625,606 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
Celera83,851,883 - 3,855,935 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map81.92NCBI
Pet100
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8126,477,703 - 6,480,435 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl126,477,777 - 6,480,431 (+)EnsemblGRCr8
mRatBN7.2121,679,805 - 1,682,540 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl121,679,859 - 1,682,540 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx122,346,471 - 2,349,136 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0122,970,043 - 2,972,709 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0121,741,020 - 1,743,669 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0122,170,630 - 2,173,259 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl122,170,630 - 2,173,251 (+)Ensemblrn6Rnor6.0
Rnor_5.0124,332,962 - 4,335,591 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4122,531,225 - 2,533,448 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera123,535,650 - 3,538,316 (+)NCBICelera
Cytogenetic Map12p12NCBI
Pet100
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555631,628,746 - 1,630,307 (-)Ensembl
ChiLan1.0NW_0049555631,628,746 - 1,630,307 (-)NCBIChiLan1.0ChiLan1.0
LOC100983712
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22012,300,612 - 12,302,502 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11911,418,199 - 11,420,091 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0196,919,469 - 6,921,359 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1197,774,461 - 7,776,340 (+)NCBIPanPan1.1PanPan1.1panPan2
LOC611528
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12052,406,154 - 52,412,552 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2052,210,235 - 52,211,785 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02052,935,464 - 52,937,014 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2052,935,565 - 52,937,263 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12052,139,263 - 52,140,813 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02052,582,852 - 52,584,402 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02052,813,857 - 52,815,407 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
LOC101966343
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118213,153,223 - 213,154,750 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365884,680,102 - 4,681,563 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365884,680,083 - 4,681,563 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PET100
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl271,519,392 - 71,520,886 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1271,519,395 - 71,520,820 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2271,911,816 - 71,913,241 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PET100
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.167,116,233 - 7,118,101 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl67,116,314 - 7,118,030 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_023666081743,504 - 745,391 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pet100
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624828712,171 - 713,801 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624828712,087 - 713,801 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
LOC116885372
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1161,546,174 - 1,548,913 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in PET100
99 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001171155.2(PET100):c.3G>C (p.Met1Ile) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV001261874]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000111466]|PET100-related disorder [RCV004757960]|not provided [RCV000413348] Chr19:7629836 [GRCh38]
Chr19:7694722 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001171155.2(PET100):c.*54G>T single nucleotide variant not provided [RCV001571659] Chr19:7631610 [GRCh38]
Chr19:7696496 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3 copy number gain See cases [RCV000054108] Chr19:7194917..7827432 [GRCh38]
Chr19:7194928..7892318 [GRCh37]
Chr19:7145928..7798318 [NCBI36]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV000240821]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000144455]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV003330441] Chr19:7631476 [GRCh38]
Chr19:7696362 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic|not provided
GRCh38/hg38 19p13.2(chr19:7595411-7633304)x3 copy number gain See cases [RCV000140171] Chr19:7595411..7633304 [GRCh38]
Chr19:7660297..7698190 [GRCh37]
Chr19:7566297..7604190 [NCBI36]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.2(chr19:7682488-7698319)x3 copy number gain Breast ductal adenocarcinoma [RCV000207045] Chr19:7682488..7698319 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.82G>A (p.Glu28Lys) single nucleotide variant PET100-related disorder [RCV003955292]|not provided [RCV000224474] Chr19:7630627 [GRCh38]
Chr19:7695513 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001171155.2(PET100):c.139-11_139-9del deletion Mitochondrial complex 4 deficiency, nuclear type 12 [RCV002498989]|not provided [RCV002060642]|not specified [RCV000603301] Chr19:7631461..7631463 [GRCh38]
Chr19:7696347..7696349 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.199C>T (p.Arg67Cys) single nucleotide variant not provided [RCV000949042]|not specified [RCV000445181] Chr19:7631533 [GRCh38]
Chr19:7696419 [GRCh37]
Chr19:19p13.2		 benign
NM_001171155.2(PET100):c.139-15C>T single nucleotide variant not provided [RCV003766303]|not specified [RCV000430522] Chr19:7631458 [GRCh38]
Chr19:7696344 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.-19G>C single nucleotide variant not specified [RCV000423480] Chr19:7629815 [GRCh38]
Chr19:7694701 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_001171155.2(PET100):c.201C>T (p.Arg67=) single nucleotide variant PET100-related disorder [RCV003905619]|not provided [RCV001697894] Chr19:7631535 [GRCh38]
Chr19:7696421 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001171155.2(PET100):c.-3G>A single nucleotide variant not specified [RCV000612597] Chr19:7629831 [GRCh38]
Chr19:7694717 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.115-3C>G single nucleotide variant Abnormality of the mitochondrion [RCV003315455]|Mitochondrial complex 4 deficiency, nuclear type 12 [RCV004786724] Chr19:7630820 [GRCh38]
Chr19:7695706 [GRCh37]
Chr19:19p13.2		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001171155.2(PET100):c.115-28G>A single nucleotide variant not provided [RCV000839155] Chr19:7630795 [GRCh38]
Chr19:7695681 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.1(PET100):c.-327G>A single nucleotide variant not provided [RCV000843617] Chr19:7629507 [GRCh38]
Chr19:7694393 [GRCh37]
Chr19:19p13.2		 benign
NM_001171155.2(PET100):c.28-193G>C single nucleotide variant not provided [RCV000833454] Chr19:7630380 [GRCh38]
Chr19:7695266 [GRCh37]
Chr19:19p13.2		 benign
NM_001171155.1(PET100):c.-58T>C single nucleotide variant not provided [RCV000836224] Chr19:7629776 [GRCh38]
Chr19:7694662 [GRCh37]
Chr19:19p13.2		 benign
NM_001171155.2(PET100):c.138+245C>G single nucleotide variant not provided [RCV000843623] Chr19:7631091 [GRCh38]
Chr19:7695977 [GRCh37]
Chr19:19p13.2		 benign
NM_001171155.2(PET100):c.139-221G>A single nucleotide variant not provided [RCV000843625] Chr19:7631252 [GRCh38]
Chr19:7696138 [GRCh37]
Chr19:19p13.2		 benign
NM_001171155.1(PET100):c.-135G>T single nucleotide variant not provided [RCV000834933] Chr19:7629699 [GRCh38]
Chr19:7694585 [GRCh37]
Chr19:19p13.2		 benign
NM_001171155.2(PET100):c.114+75T>C single nucleotide variant not provided [RCV001608586] Chr19:7630734 [GRCh38]
Chr19:7695620 [GRCh37]
Chr19:19p13.2		 benign
NM_001171155.2(PET100):c.218C>G (p.Ser73Cys) single nucleotide variant not provided [RCV000959522] Chr19:7631552 [GRCh38]
Chr19:7696438 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.9:g.(?_7587617)_(8373194_?)dup duplication Familial hemophagocytic lymphohistiocytosis 5 [RCV001031629] Chr19:7587617..8373194 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.*236C>T single nucleotide variant not provided [RCV001548327] Chr19:7631792 [GRCh38]
Chr19:7696678 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.74A>G (p.Asn25Ser) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV003492266]|PET100-related disorder [RCV004758190]|not provided [RCV001594109] Chr19:7630619 [GRCh38]
Chr19:7695505 [GRCh37]
Chr19:19p13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NC_000019.10:g.7629652A>G single nucleotide variant not provided [RCV001637761] Chr19:7629652 [GRCh38]
Chr19:7694538 [GRCh37]
Chr19:19p13.2		 benign
NC_000019.10:g.7629716C>G single nucleotide variant not provided [RCV001680364] Chr19:7629716 [GRCh38]
Chr19:7629716..7629717 [GRCh38]
Chr19:7694602 [GRCh37]
Chr19:7694602..7694603 [GRCh37]
Chr19:19p13.2		 benign
NM_001171155.2(PET100):c.138+26A>G single nucleotide variant not provided [RCV001588778] Chr19:7630872 [GRCh38]
Chr19:7695758 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.139-64_139-63del deletion not provided [RCV001586631] Chr19:7631408..7631409 [GRCh38]
Chr19:7696294..7696295 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.139-161G>A single nucleotide variant not provided [RCV001583323] Chr19:7631312 [GRCh38]
Chr19:7696198 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.10:g.7629463C>T single nucleotide variant not provided [RCV001587939] Chr19:7629463 [GRCh38]
Chr19:7694349 [GRCh37]
Chr19:19p13.2		 likely benign
GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3 copy number gain not provided [RCV001007030] Chr19:7657490..8569762 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.115-73T>A single nucleotide variant not provided [RCV001564891] Chr19:7630750 [GRCh38]
Chr19:7695636 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.184G>T (p.Glu62Ter) single nucleotide variant not provided [RCV003318902] Chr19:7631518 [GRCh38]
Chr19:7696404 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.139-99G>A single nucleotide variant not provided [RCV001539310] Chr19:7631374 [GRCh38]
Chr19:7696260 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.138+109A>G single nucleotide variant not provided [RCV001686221] Chr19:7630955 [GRCh38]
Chr19:7695841 [GRCh37]
Chr19:19p13.2		 benign
NM_001171155.2(PET100):c.28-123A>G single nucleotide variant not provided [RCV001687013] Chr19:7630450 [GRCh38]
Chr19:7695336 [GRCh37]
Chr19:19p13.2		 benign
NM_001171155.2(PET100):c.197T>C (p.Leu66Pro) single nucleotide variant not provided [RCV001776970] Chr19:7631531 [GRCh38]
Chr19:7696417 [GRCh37]
Chr19:19p13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001171155.2(PET100):c.118_119delinsTT (p.Glu40Leu) indel not provided [RCV002025496] Chr19:7630826..7630827 [GRCh38]
Chr19:7695712..7695713 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.138+3A>T single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV002484670]|not provided [RCV001987233] Chr19:7630849 [GRCh38]
Chr19:7695735 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.184GAG[1] (p.Glu63del) microsatellite Mitochondrial complex 4 deficiency, nuclear type 12 [RCV002490042]|not provided [RCV001894740] Chr19:7631517..7631519 [GRCh38]
Chr19:7696403..7696405 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV001956482] Chr19:7629834 [GRCh38]
Chr19:7694720 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_7694720)_(7712696_?)dup duplication Familial hemophagocytic lymphohistiocytosis 5 [RCV001996949] Chr19:7694720..7712696 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.114+4G>A single nucleotide variant PET100-related disorder [RCV003948792]|not provided [RCV001924753] Chr19:7630663 [GRCh38]
Chr19:7695549 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001171155.2(PET100):c.181C>T (p.Arg61Trp) single nucleotide variant not provided [RCV002011175] Chr19:7631515 [GRCh38]
Chr19:7696401 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.185A>T (p.Glu62Val) single nucleotide variant Inborn genetic diseases [RCV004044009]|not provided [RCV001940660] Chr19:7631519 [GRCh38]
Chr19:7696405 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.115-9T>C single nucleotide variant not provided [RCV002188349] Chr19:7630814 [GRCh38]
Chr19:7695700 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.1A>G (p.Met1Val) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV002250184]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV005419416]|not provided [RCV003774719] Chr19:7629834 [GRCh38]
Chr19:7694720 [GRCh37]
Chr19:19p13.2		 pathogenic|likely pathogenic
NM_001171155.2(PET100):c.138+11T>C single nucleotide variant not provided [RCV002081594] Chr19:7630857 [GRCh38]
Chr19:7695743 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.9:g.(?_7586521)_(8670595_?)dup duplication Mucolipidosis type IV [RCV003109714] Chr19:7586521..8670595 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_6361586)_(8212364_?)del deletion Mucolipidosis type IV [RCV003109715] Chr19:6361586..8212364 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_001171155.2(PET100):c.200G>A (p.Arg67His) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV002481075]|not provided [RCV002265375] Chr19:7631534 [GRCh38]
Chr19:7696420 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.160A>C (p.Lys54Gln) single nucleotide variant Inborn genetic diseases [RCV002727908] Chr19:7631494 [GRCh38]
Chr19:7696380 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.174G>A (p.Arg58=) single nucleotide variant not provided [RCV002972575] Chr19:7631508 [GRCh38]
Chr19:7696394 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.138+1G>T single nucleotide variant not provided [RCV002863259] Chr19:7630847 [GRCh38]
Chr19:7695733 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.139C>T (p.Leu47Phe) single nucleotide variant not provided [RCV002972042] Chr19:7631473 [GRCh38]
Chr19:7696359 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.221G>A (p.Ter74=) single nucleotide variant not provided [RCV002639883] Chr19:7631555 [GRCh38]
Chr19:7696441 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001171155.2(PET100):c.139-17C>T single nucleotide variant not provided [RCV002662940] Chr19:7631456 [GRCh38]
Chr19:7696342 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.82G>C (p.Glu28Gln) single nucleotide variant not provided [RCV003021141] Chr19:7630627 [GRCh38]
Chr19:7695513 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.179G>A (p.Arg60Gln) single nucleotide variant Inborn genetic diseases [RCV002626918]|not provided [RCV002626917] Chr19:7631513 [GRCh38]
Chr19:7696399 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001171155.2(PET100):c.179G>C (p.Arg60Pro) single nucleotide variant not provided [RCV003042423] Chr19:7631513 [GRCh38]
Chr19:7696399 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.193C>T (p.Leu65Phe) single nucleotide variant not provided [RCV002895497] Chr19:7631527 [GRCh38]
Chr19:7696413 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.27+15G>A single nucleotide variant not provided [RCV002676134] Chr19:7629875 [GRCh38]
Chr19:7694761 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.172C>T (p.Arg58Trp) single nucleotide variant not provided [RCV002716180] Chr19:7631506 [GRCh38]
Chr19:7696392 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.114+7A>G single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005019271]|not provided [RCV002630217] Chr19:7630666 [GRCh38]
Chr19:7695552 [GRCh37]
Chr19:19p13.2		 likely benign|uncertain significance
NM_001171155.2(PET100):c.173G>A (p.Arg58Gln) single nucleotide variant Inborn genetic diseases [RCV003349009]|not provided [RCV003071700] Chr19:7631507 [GRCh38]
Chr19:7696393 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.139-18C>T single nucleotide variant not provided [RCV002590087] Chr19:7631455 [GRCh38]
Chr19:7696341 [GRCh37]
Chr19:19p13.2		 likely benign
NM_174895.3(PCP2):c.358G>A (p.Ala120Thr) single nucleotide variant not specified [RCV004343345] Chr19:7631742 [GRCh38]
Chr19:7696628 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.204C>T (p.Asp68=) single nucleotide variant not provided [RCV003725998] Chr19:7631538 [GRCh38]
Chr19:7696424 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.216C>T (p.Asn72=) single nucleotide variant not provided [RCV003668111] Chr19:7631550 [GRCh38]
Chr19:7696436 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.139-16G>T single nucleotide variant not provided [RCV003716308] Chr19:7631457 [GRCh38]
Chr19:7696343 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.114+1G>A single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005014895]|not provided [RCV003717722] Chr19:7630660 [GRCh38]
Chr19:7695546 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001171155.2(PET100):c.201C>A (p.Arg67=) single nucleotide variant not provided [RCV003679438] Chr19:7631535 [GRCh38]
Chr19:7696421 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.139-9C>T single nucleotide variant not provided [RCV003674930] Chr19:7631464 [GRCh38]
Chr19:7696350 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.139-7C>T single nucleotide variant not provided [RCV003681952] Chr19:7631466 [GRCh38]
Chr19:7696352 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.138+15C>T single nucleotide variant not provided [RCV003663880] Chr19:7630861 [GRCh38]
Chr19:7695747 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.114+14G>A single nucleotide variant not provided [RCV003664543] Chr19:7630673 [GRCh38]
Chr19:7695559 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.66G>A (p.Trp22Ter) single nucleotide variant not provided [RCV003695305] Chr19:7630611 [GRCh38]
Chr19:7695497 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001171155.2(PET100):c.114+16G>C single nucleotide variant not provided [RCV003692050] Chr19:7630675 [GRCh38]
Chr19:7695561 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.28-2A>G single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005014825]|not provided [RCV003671884] Chr19:7630571 [GRCh38]
Chr19:7695457 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001171155.2(PET100):c.139-4C>G single nucleotide variant not provided [RCV003711100] Chr19:7631469 [GRCh38]
Chr19:7696355 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.139-10C>T single nucleotide variant not provided [RCV003694672] Chr19:7631463 [GRCh38]
Chr19:7696349 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.198T>C (p.Leu66=) single nucleotide variant not provided [RCV003701413] Chr19:7631532 [GRCh38]
Chr19:7696418 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.138+16_138+18del microsatellite not provided [RCV003706690] Chr19:7630857..7630859 [GRCh38]
Chr19:7695743..7695745 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.178C>T (p.Arg60Trp) single nucleotide variant not provided [RCV003442386] Chr19:7631512 [GRCh38]
Chr19:7696398 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.18G>A (p.Glu6=) single nucleotide variant not provided [RCV003576338] Chr19:7629851 [GRCh38]
Chr19:7694737 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.115-1G>A single nucleotide variant not provided [RCV003551603] Chr19:7630822 [GRCh38]
Chr19:7695708 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001171155.2(PET100):c.27+15G>C single nucleotide variant not provided [RCV003545326] Chr19:7629875 [GRCh38]
Chr19:7694761 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.186G>A (p.Glu62=) single nucleotide variant not provided [RCV003543565] Chr19:7631520 [GRCh38]
Chr19:7696406 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.141T>C (p.Leu47=) single nucleotide variant not provided [RCV003560184] Chr19:7631475 [GRCh38]
Chr19:7696361 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.207C>T (p.Ala69=) single nucleotide variant not provided [RCV003556466] Chr19:7631541 [GRCh38]
Chr19:7696427 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.28-14C>G single nucleotide variant not provided [RCV003554592] Chr19:7630559 [GRCh38]
Chr19:7695445 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.114+18G>A single nucleotide variant not provided [RCV003569816] Chr19:7630677 [GRCh38]
Chr19:7695563 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.27+10C>T single nucleotide variant not provided [RCV003569872] Chr19:7629870 [GRCh38]
Chr19:7694756 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.39C>A (p.Tyr13Ter) single nucleotide variant not provided [RCV003575741] Chr19:7630584 [GRCh38]
Chr19:7695470 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001171155.2(PET100):c.139-16G>A single nucleotide variant not provided [RCV003810786] Chr19:7631457 [GRCh38]
Chr19:7696343 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.28-18C>T single nucleotide variant not provided [RCV003856735] Chr19:7630555 [GRCh38]
Chr19:7695441 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.23_27+4del deletion not provided [RCV003823787] Chr19:7629856..7629864 [GRCh38]
Chr19:7694742..7694750 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001171155.2(PET100):c.27+14G>A single nucleotide variant not provided [RCV003845169] Chr19:7629874 [GRCh38]
Chr19:7694760 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.27+11A>G single nucleotide variant not provided [RCV003821869] Chr19:7629871 [GRCh38]
Chr19:7694757 [GRCh37]
Chr19:19p13.2		 likely benign
NC_000019.9:g.(?_5691310)_(8008536_?)dup duplication not provided [RCV004579685] Chr19:5691310..8008536 [GRCh37]
Chr19:19p13.3-13.2		 uncertain significance
NC_000019.9:g.(?_7504827)_(7712696_?)del deletion Mucolipidosis type IV [RCV004581057] Chr19:7504827..7712696 [GRCh37]
Chr19:19p13.2		 pathogenic
NC_000019.9:g.(?_7694720)_(7712696_?)del deletion Familial hemophagocytic lymphohistiocytosis 5 [RCV004581118] Chr19:7694720..7712696 [GRCh37]
Chr19:19p13.2		 pathogenic
NM_001171155.2(PET100):c.205G>A (p.Ala69Thr) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005015970] Chr19:7631539 [GRCh38]
Chr19:7696425 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.28A>G (p.Met10Val) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005015966] Chr19:7630573 [GRCh38]
Chr19:7695459 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.49C>T (p.Pro17Ser) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005028750] Chr19:7630594 [GRCh38]
Chr19:7695480 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.3G>A (p.Met1Ile) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005015963] Chr19:7629836 [GRCh38]
Chr19:7694722 [GRCh37]
Chr19:19p13.2		 likely pathogenic
NM_001171155.2(PET100):c.20T>C (p.Ile7Thr) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005015964] Chr19:7629853 [GRCh38]
Chr19:7694739 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.27+4A>G single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005015965] Chr19:7629864 [GRCh38]
Chr19:7694750 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.154G>C (p.Glu52Gln) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005015969] Chr19:7631488 [GRCh38]
Chr19:7696374 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.205G>T (p.Ala69Ser) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005015971] Chr19:7631539 [GRCh38]
Chr19:7696425 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.140T>G (p.Leu47Arg) single nucleotide variant Mitochondrial complex 4 deficiency, nuclear type 12 [RCV005015968] Chr19:7631474 [GRCh38]
Chr19:7696360 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_174895.3(PCP2):c.371G>A (p.Arg124His) single nucleotide variant not specified [RCV004839334] Chr19:7631729 [GRCh38]
Chr19:7696615 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001171155.2(PET100):c.138+13T>G single nucleotide variant not provided [RCV005196479] Chr19:7630859 [GRCh38]
Chr19:7695745 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.153G>A (p.Glu51=) single nucleotide variant not provided [RCV005155057] Chr19:7631487 [GRCh38]
Chr19:7696373 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001171155.2(PET100):c.131C>T (p.Pro44Leu) single nucleotide variant Inborn genetic diseases [RCV005386955] Chr19:7630839 [GRCh38]
Chr19:7695725 [GRCh37]
Chr19:19p13.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1685
Count of miRNA genes:762
Interacting mature miRNAs:897
Transcripts:ENST00000456958, ENST00000594797, ENST00000598540, ENST00000600836, ENST00000601406, ENST00000601829
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
SHGC-35712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,314,770 - 186,314,999UniSTSGRCh37
Build 363187,797,464 - 187,797,693RGDNCBI36
Celera3184,751,157 - 184,751,386RGD
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map3q27.3UniSTS
HuRef3183,723,835 - 183,724,064UniSTS
TNG Radiation Hybrid Map346968.0UniSTS
Stanford-G3 RH Map38142.0UniSTS
GeneMap99-GB4 RH Map3699.53UniSTS
Whitehead-RH Map3854.0UniSTS
GeneMap99-G3 RH Map38612.0UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000456958   ⟹   ENSP00000392303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,814 - 7,631,620 (+)Ensembl
Ensembl Acc Id: ENST00000594797   ⟹   ENSP00000470539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,793 - 7,631,956 (+)Ensembl
Ensembl Acc Id: ENST00000598540   ⟹   ENSP00000470314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,839 - 7,631,624 (+)Ensembl
Ensembl Acc Id: ENST00000600836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,630,525 - 7,631,624 (+)Ensembl
Ensembl Acc Id: ENST00000601406   ⟹   ENSP00000470935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,824 - 7,631,030 (+)Ensembl
Ensembl Acc Id: ENST00000601829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,824 - 7,630,852 (+)Ensembl
Ensembl Acc Id: ENST00000623154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,809 - 7,631,623 (+)Ensembl
Ensembl Acc Id: ENST00000698396   ⟹   ENSP00000513691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,788 - 7,631,605 (+)Ensembl
Ensembl Acc Id: ENST00000698397   ⟹   ENSP00000513692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,796 - 7,631,629 (+)Ensembl
Ensembl Acc Id: ENST00000698398   ⟹   ENSP00000513693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,837 - 7,631,624 (+)Ensembl
Ensembl Acc Id: ENST00000923270   ⟹   ENSP00000593329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,711 - 7,631,629 (+)Ensembl
Ensembl Acc Id: ENST00000923271   ⟹   ENSP00000593330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,773 - 7,631,624 (+)Ensembl
Ensembl Acc Id: ENST00000923272   ⟹   ENSP00000593331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,822 - 7,631,620 (+)Ensembl
Ensembl Acc Id: ENST00000944473   ⟹   ENSP00000614532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl197,629,793 - 7,631,623 (+)Ensembl
RefSeq Acc Id: NM_001171155   ⟹   NP_001164626
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,629,793 - 7,631,956 (+)NCBI
GRCh37197,694,671 - 7,696,510 (+)RGD
Celera197,565,855 - 7,567,694 (+)RGD
HuRef197,364,339 - 7,366,226 (+)ENTREZGENE
CHM1_1197,694,422 - 7,696,261 (+)NCBI
T2T-CHM13v2.0197,630,676 - 7,632,839 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033242
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,629,793 - 7,631,956 (+)NCBI
GRCh37197,694,671 - 7,696,510 (+)RGD
Celera197,565,855 - 7,567,694 (+)RGD
HuRef197,364,339 - 7,366,226 (+)ENTREZGENE
CHM1_1197,694,422 - 7,696,261 (+)NCBI
T2T-CHM13v2.0197,630,676 - 7,632,839 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001164626 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein EAW69020 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000470539
  ENSP00000470539.1
GenBank Protein P0DJ07 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001164626   ⟸   NM_001171155
- UniProtKB: P0DJ07 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000470539   ⟸   ENST00000594797
Ensembl Acc Id: ENSP00000470314   ⟸   ENST00000598540
Ensembl Acc Id: ENSP00000392303   ⟸   ENST00000456958
Ensembl Acc Id: ENSP00000470935   ⟸   ENST00000601406
Ensembl Acc Id: ENSP00000513692   ⟸   ENST00000698397
Ensembl Acc Id: ENSP00000513691   ⟸   ENST00000698396
Ensembl Acc Id: ENSP00000513693   ⟸   ENST00000698398
Ensembl Acc Id: ENSP00000593331   ⟸   ENST00000923272
Ensembl Acc Id: ENSP00000593330   ⟸   ENST00000923271
Ensembl Acc Id: ENSP00000593329   ⟸   ENST00000923270
Ensembl Acc Id: ENSP00000614532   ⟸   ENST00000944473

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0DJ07-F1-model_v2 AlphaFold P0DJ07 1-73 view protein structure

Promoters
RGD ID:7238299
Promoter ID:EPDNEW_H24895
Type:initiation region
Name:C19orf79_1
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
GRCh38197,629,793 - 7,629,853EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:40038 AgrOrtholog
COSMIC PET100 COSMIC
Ensembl Genes ENSG00000229833 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000594797 ENTREZGENE
  ENST00000594797.6 UniProtKB/Swiss-Prot
GTEx ENSG00000229833 GTEx
HGNC ID HGNC:40038 ENTREZGENE
Human Proteome Map PET100 Human Proteome Map
InterPro Pet100 UniProtKB/Swiss-Prot
KEGG Report hsa:100131801 UniProtKB/Swiss-Prot
NCBI Gene 100131801 ENTREZGENE
OMIM 614770 OMIM
PANTHER PROTEIN PET100 HOMOLOG, MITOCHONDRIAL UniProtKB/Swiss-Prot
  PTHR33968 UniProtKB/Swiss-Prot
Pfam Pet100 UniProtKB/Swiss-Prot
PharmGKB PA166049058 PharmGKB
UniProt A0A0A0MSK2_HUMAN UniProtKB/TrEMBL
  A0A8V8TLP9_HUMAN UniProtKB/TrEMBL
  A0A8V8TM67_HUMAN UniProtKB/TrEMBL
  A0A8V8TN53_HUMAN UniProtKB/TrEMBL
  M0QZ55_HUMAN UniProtKB/TrEMBL
  M0R022_HUMAN UniProtKB/TrEMBL
  P0DJ07 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-03-19 PET100  PET100 cytochrome c oxidase chaperone    PET100 homolog  Symbol and/or name change 5135510 APPROVED
2015-07-14 PET100  PET100 homolog    PET100 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2012-06-27 PET100  PET100 homolog (S. cerevisiae)  C19orf79  chromosome 19 open reading frame 79  Symbol and/or name change 5135510 APPROVED