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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | COX7A1 | Human | dilated cardiomyopathy | | ISS | Cox7a1 (Mus musculus) | 13592920 | | MouseDO | | |
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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | COX7A1 | Human | dilated cardiomyopathy | | ISS | Cox7a1 (Mus musculus) | 13592920 | | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1309697 | PMID:1327965 | PMID:2550906 | PMID:9344674 | PMID:9752724 | PMID:10335655 | PMID:11997101 | PMID:12477932 | PMID:15057824 | PMID:15489334 | PMID:18488190 | PMID:19779253 |
PMID:19843159 | PMID:19913121 | PMID:20413852 | PMID:20628086 | PMID:20877624 | PMID:21873635 | PMID:22142811 | PMID:22419111 | PMID:22592081 | PMID:22968485 | PMID:25666558 | PMID:27866983 |
PMID:32814053 | PMID:33961781 | PMID:34800366 | PMID:36418320 | PMID:38830579 |
COX7A1 (Homo sapiens - human) |
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Cox7a1 (Mus musculus - house mouse) |
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Cox7a1 (Rattus norvegicus - Norway rat) |
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LOC102008614 (Chinchilla lanigera - long-tailed chinchilla) |
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LOC100973061 (Pan paniscus - bonobo/pygmy chimpanzee) |
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COX7A1 (Canis lupus familiaris - dog) |
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LOC101965810 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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COX7A1 (Sus scrofa - pig) |
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LOC103234561 (Chlorocebus sabaeus - green monkey) |
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LOC101715151 (Heterocephalus glaber - naked mole-rat) |
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Variants in COX7A1
9 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 | copy number gain | See cases [RCV000133888] | Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 | copy number loss | See cases [RCV000135879] | Chr19:29661858..38114723 [GRCh38] Chr19:30152765..38605363 [GRCh37] Chr19:34844605..43297203 [NCBI36] Chr19:19q12-13.13 |
pathogenic |
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 | copy number loss | See cases [RCV000136794] | Chr19:29671324..37902990 [GRCh38] Chr19:30162231..38393630 [GRCh37] Chr19:34854071..43085470 [NCBI36] Chr19:19q12-13.13 |
pathogenic |
GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3 | copy number gain | See cases [RCV000240597] | Chr19:36475577..38399402 [GRCh37] Chr19:19q13.12-13.13 |
uncertain significance |
GRCh37/hg19 19q13.12(chr19:36606538-36643669)x3 | copy number gain | See cases [RCV000448457] | Chr19:36606538..36643669 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1 | copy number loss | See cases [RCV000511504] | Chr19:36147111..37249653 [GRCh37] Chr19:19q13.12 |
uncertain significance |
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 |
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(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
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 19q13.12(chr19:36628463-36758139)x3 | copy number gain | not provided [RCV000740146] | Chr19:36628463..36758139 [GRCh37] Chr19:19q13.12 |
benign |
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) | copy number loss | Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] | Chr19:35111811..37744992 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 | copy number gain | not provided [RCV000845733] | Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
GRCh37/hg19 19q13.12(chr19:36570287-36655341)x3 | copy number gain | not provided [RCV000846132] | Chr19:36570287..36655341 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NC_000019.9:g.(?_33167170)_(36643309_?)dup | duplication | Hereditary spastic paraplegia 75 [RCV003107659] | Chr19:33167170..36643309 [GRCh37] Chr19:19q13.11-13.12 |
uncertain significance |
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 | copy number gain | Specific learning disability [RCV001801194] | Chr19:19546923..41313229 [GRCh37] Chr19:19p13.11-q13.2 |
pathogenic |
NC_000019.9:g.(?_35521725)_(36643309_?)del | deletion | Brugada syndrome 5 [RCV001910265] | Chr19:35521725..36643309 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001864.4(COX7A1):c.52G>T (p.Ala18Ser) | single nucleotide variant | not specified [RCV004166493] | Chr19:36151719 [GRCh38] Chr19:36642621 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001864.4(COX7A1):c.132G>T (p.Lys44Asn) | single nucleotide variant | not specified [RCV004223932] | Chr19:36151517 [GRCh38] Chr19:36642419 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001864.4(COX7A1):c.14G>T (p.Arg5Leu) | single nucleotide variant | not specified [RCV004179941] | Chr19:36152394 [GRCh38] Chr19:36643296 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001864.4(COX7A1):c.161G>A (p.Arg54Gln) | single nucleotide variant | not specified [RCV004189193] | Chr19:36151488 [GRCh38] Chr19:36642390 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001864.4(COX7A1):c.82G>A (p.Glu28Lys) | single nucleotide variant | not specified [RCV004154501] | Chr19:36151689 [GRCh38] Chr19:36642591 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q13.12(chr19:36312941-36751702)x3 | copy number gain | not provided [RCV003485199] | Chr19:36312941..36751702 [GRCh37] Chr19:19q13.12 |
uncertain significance |
Single allele | deletion | not provided [RCV003448708] | Chr19:35225414..37357598 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 | copy number gain | not specified [RCV003986115] | Chr19:28271146..41508851 [GRCh37] Chr19:19q11-13.2 |
pathogenic |
GRCh37/hg19 19q13.12(chr19:36451071-36752221)x3 | copy number gain | not specified [RCV003986106] | Chr19:36451071..36752221 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001864.4(COX7A1):c.229C>T (p.Pro77Ser) | single nucleotide variant | not specified [RCV004372282] | Chr19:36150993 [GRCh38] Chr19:36641895 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001864.4(COX7A1):c.103G>A (p.Glu35Lys) | single nucleotide variant | not specified [RCV004372281] | Chr19:36151546 [GRCh38] Chr19:36642448 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1 | copy number loss | not provided [RCV004577477] | Chr19:35223021..36895699 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
NM_001864.4(COX7A1):c.99C>A (p.Phe33Leu) | single nucleotide variant | not specified [RCV004610888] | Chr19:36151672 [GRCh38] Chr19:36642574 [GRCh37] Chr19:19q13.12 |
uncertain significance |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH93348 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2391 | 2788 | 2239 | 4920 | 1714 | 2277 | 4 | 621 | 1598 | 461 | 2239 | 6899 | 6123 | 28 | 3700 | 1 | 827 | 1717 | 1549 | 174 | 1 |
RefSeq Transcripts | NM_001864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC002984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AD001527 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF037372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF127789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK312091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC002757 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT006924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR542120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HE647855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HE647857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M83186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U81524 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000292907 ⟹ ENSP00000292907 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000437291 ⟹ ENSP00000475885 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000481297 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000589154 ⟹ ENSP00000468063 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001864 ⟹ NP_001855 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001855 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA52166 | (Get FASTA) | NCBI Sequence Viewer |
AAB51184 | (Get FASTA) | NCBI Sequence Viewer | |
AAB81547 | (Get FASTA) | NCBI Sequence Viewer | |
AAB82735 | (Get FASTA) | NCBI Sequence Viewer | |
AAB92616 | (Get FASTA) | NCBI Sequence Viewer | |
AAF72747 | (Get FASTA) | NCBI Sequence Viewer | |
AAH02757 | (Get FASTA) | NCBI Sequence Viewer | |
AAP35570 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35027 | (Get FASTA) | NCBI Sequence Viewer | |
CAG46917 | (Get FASTA) | NCBI Sequence Viewer | |
CCF23103 | (Get FASTA) | NCBI Sequence Viewer | |
CCF23105 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000292907 | ||
ENSP00000292907.3 | |||
ENSP00000468063.3 | |||
ENSP00000475885.1 | |||
GenBank Protein | P24310 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001855 ⟸ NM_001864 |
- Peptide Label: | precursor |
- UniProtKB: | P24310 (UniProtKB/Swiss-Prot), H6SG12 (UniProtKB/TrEMBL), Q6FGI7 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000292907 ⟸ ENST00000292907 |
Ensembl Acc Id: | ENSP00000468063 ⟸ ENST00000589154 |
Ensembl Acc Id: | ENSP00000475885 ⟸ ENST00000437291 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P24310-F1-model_v2 | AlphaFold | P24310 | 1-79 | view protein structure |
RGD ID: | 7239651 | ||||||||
Promoter ID: | EPDNEW_H25572 | ||||||||
Type: | initiation region | ||||||||
Name: | COX7A1_1 | ||||||||
Description: | cytochrome c oxidase subunit 7A1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:2287 | AgrOrtholog |
COSMIC | COX7A1 | COSMIC |
Ensembl Genes | ENSG00000161281 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000292907 | ENTREZGENE |
ENST00000292907.8 | UniProtKB/Swiss-Prot | |
ENST00000437291.6 | UniProtKB/TrEMBL | |
ENST00000589154.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 4.10.91.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000161281 | GTEx |
HGNC ID | HGNC:2287 | ENTREZGENE |
Human Proteome Map | COX7A1 | Human Proteome Map |
InterPro | COX7a | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cyt_c_oxidase_su7a_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cytc_oxidase_su7a_met | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:1346 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 1346 | ENTREZGENE |
OMIM | 123995 | OMIM |
PANTHER | CYTOCHROME C OXIDASE SUBUNIT 7A1, MITOCHONDRIAL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR10510 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | COX7a | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA26805 | PharmGKB |
Superfamily-SCOP | SSF81419 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | CX7A1_HUMAN | UniProtKB/Swiss-Prot |
H6SG12 | ENTREZGENE, UniProtKB/TrEMBL | |
K7ER11_HUMAN | UniProtKB/TrEMBL | |
P24310 | ENTREZGENE | |
Q6FGI7 | ENTREZGENE, UniProtKB/TrEMBL | |
U3KQH8_HUMAN | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-02-16 | COX7A1 | cytochrome c oxidase subunit 7A1 | COX7A1 | cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) | Symbol and/or name change | 5135510 | APPROVED |