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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | COX6B1 | Human | mitochondrial complex IV deficiency nuclear type 7 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | COX6B1 | Human | mitochondrial complex IV deficiency nuclear type 7 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:1647217 | PMID:1650756 | PMID:1651883 | PMID:2172092 | PMID:2537962 | PMID:7821789 | PMID:11943455 | PMID:12477932 | PMID:15057824 | PMID:15489334 | PMID:17353931 | PMID:17500595 |
PMID:17516841 | PMID:18029348 | PMID:18499082 | PMID:19843159 | PMID:20877624 | PMID:21873635 | PMID:22190034 | PMID:22419111 | PMID:22926577 | PMID:22939629 | PMID:24344204 | PMID:24781756 |
PMID:25329893 | PMID:25409632 | PMID:26186194 | PMID:26344197 | PMID:26496610 | PMID:26577226 | PMID:27499296 | PMID:27609421 | PMID:28514442 | PMID:28700943 | PMID:29568061 | PMID:29791485 |
PMID:30030519 | PMID:31470122 | PMID:31527615 | PMID:31536960 | PMID:31617661 | PMID:31980649 | PMID:32513696 | PMID:32707033 | PMID:32877691 | PMID:33545068 | PMID:33729478 | PMID:33961781 |
PMID:34079125 | PMID:34349018 | PMID:34373451 | PMID:34800366 | PMID:35013218 | PMID:35063084 | PMID:35140242 | PMID:35944360 | PMID:36225252 | PMID:36373674 | PMID:36724073 | PMID:37827155 |
PMID:38297188 | PMID:38334954 |
COX6B1 (Homo sapiens - human) |
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Cox6b1 (Mus musculus - house mouse) |
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Cox6b1 (Rattus norvegicus - Norway rat) |
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LOC102025227 (Chinchilla lanigera - long-tailed chinchilla) |
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LOC100972703 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LOC612644 (Canis lupus familiaris - dog) |
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LOC101972214 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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COX6B (Sus scrofa - pig) |
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LOC103242353 (Chlorocebus sabaeus - green monkey) |
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LOC101697786 (Heterocephalus glaber - naked mole-rat) |
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Variants in COX6B1
48 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001863.5(COX6B1):c.59G>A (p.Arg20His) | single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 [RCV000018371] | Chr19:35651302 [GRCh38] Chr19:36142204 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_001863.5(COX6B1):c.228A>G (p.Gln76=) | single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 [RCV001124440]|not provided [RCV000961636]|not specified [RCV000124586] | Chr19:35658614 [GRCh38] Chr19:36149516 [GRCh37] Chr19:19q13.12 |
benign|uncertain significance |
NM_001863.5(COX6B1):c.42C>T (p.Thr14=) | single nucleotide variant | COX6B1-related disorder [RCV003975101]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000272774]|not provided [RCV000677072]|not specified [RCV000124587] | Chr19:35651285 [GRCh38] Chr19:36142187 [GRCh37] Chr19:19q13.12 |
benign|likely benign |
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys) | single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 [RCV000201789] | Chr19:35651301 [GRCh38] Chr19:36142203 [GRCh37] Chr19:19q13.12 |
pathogenic|likely pathogenic |
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 |
NM_001863.5(COX6B1):c.136G>A (p.Ala46Thr) | single nucleotide variant | Inborn genetic diseases [RCV003372649]|not provided [RCV000197089] | Chr19:35654600 [GRCh38] Chr19:36145502 [GRCh37] Chr19:19q13.12 |
likely benign|uncertain significance |
NM_001863.5(COX6B1):c.247C>T (p.Pro83Ser) | single nucleotide variant | Inborn genetic diseases [RCV002515390]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000320973]|not provided [RCV000198288] | Chr19:35658633 [GRCh38] Chr19:36149535 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.4(COX6B1):c.-145G>A | single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 [RCV000269405]|not provided [RCV001539117] | Chr19:35648270 [GRCh38] Chr19:36139172 [GRCh37] Chr19:19q13.12 |
benign|likely benign |
NM_001863.4(COX6B1):c.-133A>G | single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 [RCV000308204] | Chr19:35648282 [GRCh38] Chr19:36139184 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.-47A>G | single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 [RCV000365070] | Chr19:35648368 [GRCh38] Chr19:36139270 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q13.12(chr19:35658728-36173537)x3 | copy number gain | not provided [RCV000752672] | Chr19:35658728..36173537 [GRCh37] Chr19:19q13.12 |
benign |
NM_001863.5(COX6B1):c.107-16A>G | single nucleotide variant | Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002502469]|not provided [RCV002061370]|not specified [RCV000425026] | Chr19:35654555 [GRCh38] Chr19:36145457 [GRCh37] Chr19:19q13.12 |
benign|likely benign |
GRCh37/hg19 19q13.12(chr19:35723176-36183886)x3 | copy number gain | See cases [RCV000448697] | Chr19:35723176..36183886 [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 |
NM_001863.5(COX6B1):c.-36C>G | single nucleotide variant | not specified [RCV000601450] | Chr19:35648379 [GRCh38] Chr19:36139281 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.243G>A (p.Thr81=) | single nucleotide variant | Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002491255]|not provided [RCV002063268]|not specified [RCV000613210] | Chr19:35658629 [GRCh38] Chr19:36149531 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.-11-8G>A | single nucleotide variant | Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002506458]|not specified [RCV000602542] | Chr19:35651225 [GRCh38] Chr19:36142127 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.249C>T (p.Pro83=) | single nucleotide variant | not provided [RCV001722624] | Chr19:35658635 [GRCh38] Chr19:36149537 [GRCh37] Chr19:19q13.12 |
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(chr19:68029-59110290)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 |
NM_001863.5(COX6B1):c.106+14T>C | single nucleotide variant | not provided [RCV001611321] | Chr19:35651363 [GRCh38] Chr19:36142265 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.107-194T>C | single nucleotide variant | not provided [RCV001610891] | Chr19:35654377 [GRCh38] Chr19:36145279 [GRCh37] Chr19:19q13.12 |
benign |
GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644) | copy number loss | not provided [RCV000767769] | Chr19:35043556..36316644 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
NM_001863.5(COX6B1):c.6G>A (p.Ala2=) | single nucleotide variant | not provided [RCV000904297] | Chr19:35651249 [GRCh38] Chr19:36142151 [GRCh37] Chr19:19q13.12 |
likely 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 19q13.12(chr19:35613953-36183886)x1 | copy number loss | not provided [RCV000845987] | Chr19:35613953..36183886 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.106+45G>A | single nucleotide variant | not provided [RCV000835512] | Chr19:35651394 [GRCh38] Chr19:36142296 [GRCh37] Chr19:19q13.12 |
benign |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 | copy number gain | not provided [RCV000845733] | Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
NC_000019.9:g.(?_33167170)_(36643309_?)dup | duplication | Hereditary spastic paraplegia 75 [RCV003107659] | Chr19:33167170..36643309 [GRCh37] Chr19:19q13.11-13.12 |
uncertain significance |
NC_000019.10:g.35658918del | deletion | not provided [RCV001552178] | Chr19:35658905 [GRCh38] Chr19:36149807 [GRCh37] Chr19:19q13.12 |
likely benign |
NC_000019.10:g.35658859A>G | single nucleotide variant | not provided [RCV001638613] | Chr19:35658859 [GRCh38] Chr19:36149761 [GRCh37] Chr19:19q13.12 |
benign |
NM_001863.5(COX6B1):c.107-49del | deletion | not provided [RCV001546812] | Chr19:35654508 [GRCh38] Chr19:36145410 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.-42G>A | single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 [RCV001123351] | Chr19:35648373 [GRCh38] Chr19:36139275 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.-11-96A>G | single nucleotide variant | not provided [RCV001545868] | Chr19:35651137 [GRCh38] Chr19:36142039 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.208-46C>T | single nucleotide variant | not provided [RCV001684916] | Chr19:35658548 [GRCh38] Chr19:36149450 [GRCh37] Chr19:19q13.12 |
benign |
NM_001863.5(COX6B1):c.102C>T (p.Tyr34=) | single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 [RCV001123352] | Chr19:35651345 [GRCh38] Chr19:36142247 [GRCh37] Chr19:19q13.12 |
uncertain significance |
Single allele | deletion | Dystonic disorder [RCV001003865] | Chr19:35553425..36264299 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_001863.5(COX6B1):c.107-45G>A | single nucleotide variant | not provided [RCV001725539] | Chr19:35654526 [GRCh38] Chr19:36145428 [GRCh37] Chr19:19q13.12 |
benign |
NM_001863.5(COX6B1):c.212C>T (p.Thr71Ile) | single nucleotide variant | Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002480496]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV001123353] | Chr19:35658598 [GRCh38] Chr19:36149500 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3 | copy number gain | not provided [RCV001833065] | Chr19:36019064..36516110 [GRCh37] Chr19:19q13.12 |
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_000019.10:g.35658909T>A | single nucleotide variant | not provided [RCV001769613] | Chr19:35658909 [GRCh38] Chr19:36149811 [GRCh37] Chr19:19q13.12 |
likely benign |
NC_000019.10:g.35658908T>A | single nucleotide variant | not provided [RCV001776946] | Chr19:35658908 [GRCh38] Chr19:36149810 [GRCh37] Chr19:19q13.12 |
likely benign |
NC_000019.9:g.(?_35521725)_(36643309_?)del | deletion | Brugada syndrome 5 [RCV001910265] | Chr19:35521725..36643309 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.250G>A (p.Gly84Arg) | single nucleotide variant | Inborn genetic diseases [RCV003303291]|not provided [RCV001892759] | Chr19:35658636 [GRCh38] Chr19:36149538 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.200C>T (p.Thr67Ile) | single nucleotide variant | Inborn genetic diseases [RCV003247112]|Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002490151]|not provided [RCV001882248] | Chr19:35654664 [GRCh38] Chr19:36145566 [GRCh37] Chr19:19q13.12 |
likely benign|uncertain significance |
NM_001863.5(COX6B1):c.157G>A (p.Val53Met) | single nucleotide variant | Mitochondrial complex 4 deficiency, nuclear type 7 [RCV002489972]|not provided [RCV001870071] | Chr19:35654621 [GRCh38] Chr19:36145523 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.242C>T (p.Thr81Met) | single nucleotide variant | not provided [RCV001877068] | Chr19:35658628 [GRCh38] Chr19:36149530 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NC_000019.9:g.(?_35521725)_(36229458_?)del | deletion | not provided [RCV001975081] | Chr19:35521725..36229458 [GRCh37] Chr19:19q13.12 |
pathogenic |
NM_001863.5(COX6B1):c.106+11C>T | single nucleotide variant | not provided [RCV002104518] | Chr19:35651360 [GRCh38] Chr19:36142262 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.1A>G (p.Met1Val) | single nucleotide variant | not provided [RCV003116001] | Chr19:35651244 [GRCh38] Chr19:36142146 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.60C>T (p.Arg20=) | single nucleotide variant | not provided [RCV002993539] | Chr19:35651303 [GRCh38] Chr19:36142205 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.230G>T (p.Arg77Leu) | single nucleotide variant | not provided [RCV002690682] | Chr19:35658616 [GRCh38] Chr19:36149518 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.135C>T (p.Thr45=) | single nucleotide variant | not provided [RCV002694759] | Chr19:35654599 [GRCh38] Chr19:36145501 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.18G>C (p.Glu6Asp) | single nucleotide variant | not provided [RCV002659192] | Chr19:35651261 [GRCh38] Chr19:36142163 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.208-9T>C | single nucleotide variant | not provided [RCV002846924] | Chr19:35658585 [GRCh38] Chr19:36149487 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.130A>G (p.Met44Val) | single nucleotide variant | not provided [RCV002797329] | Chr19:35654594 [GRCh38] Chr19:36145496 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.235G>A (p.Glu79Lys) | single nucleotide variant | not provided [RCV002885720] | Chr19:35658621 [GRCh38] Chr19:36149523 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.207+20G>A | single nucleotide variant | not provided [RCV002626785] | Chr19:35654691 [GRCh38] Chr19:36145593 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.13A>C (p.Met5Leu) | single nucleotide variant | Inborn genetic diseases [RCV004068317]|not provided [RCV002967323] | Chr19:35651256 [GRCh38] Chr19:36142158 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.148G>A (p.Asp50Asn) | single nucleotide variant | not provided [RCV002646901] | Chr19:35654612 [GRCh38] Chr19:36145514 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.159G>T (p.Val53=) | single nucleotide variant | not provided [RCV002627564] | Chr19:35654623 [GRCh38] Chr19:36145525 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.163G>A (p.Glu55Lys) | single nucleotide variant | Inborn genetic diseases [RCV002965676]|not provided [RCV003720709] | Chr19:35654627 [GRCh38] Chr19:36145529 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_001863.5(COX6B1):c.207+17A>C | single nucleotide variant | not provided [RCV002582973] | Chr19:35654688 [GRCh38] Chr19:36145590 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.207+19G>A | single nucleotide variant | not provided [RCV002612897] | Chr19:35654690 [GRCh38] Chr19:36145592 [GRCh37] Chr19:19q13.12 |
likely benign |
NM_001863.5(COX6B1):c.179T>C (p.Val60Ala) | single nucleotide variant | not provided [RCV002583258] | Chr19:35654643 [GRCh38] Chr19:36145545 [GRCh37] Chr19:19q13.12 |
uncertain significance |
Single allele | deletion | not provided [RCV003448708] | Chr19:35225414..37357598 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
NM_001863.5(COX6B1):c.126G>A (p.Lys42=) | single nucleotide variant | not provided [RCV003725248] | Chr19:35654590 [GRCh38] Chr19:36145492 [GRCh37] Chr19:19q13.12 |
likely benign|conflicting interpretations of pathogenicity |
NM_001863.5(COX6B1):c.106+13T>C | single nucleotide variant | not provided [RCV003551421] | Chr19:35651362 [GRCh38] Chr19:36142264 [GRCh37] Chr19:19q13.12 |
likely benign |
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 | copy number gain | not specified [RCV003986115] | Chr19:28271146..41508851 [GRCh37] Chr19:19q11-13.2 |
pathogenic |
NM_001863.5(COX6B1):c.13A>G (p.Met5Val) | single nucleotide variant | not provided [RCV003722767] | Chr19:35651256 [GRCh38] Chr19:36142158 [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_001863.5(COX6B1):c.91T>C (p.Trp31Arg) | single nucleotide variant | not provided [RCV004696827] | Chr19:35651334 [GRCh38] Chr19:36142236 [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 |
RH91816 |
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SHGC-30021 |
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RH18087 |
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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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renal system
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reproductive system
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respiratory system
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sensory system
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1204 | 2432 | 2788 | 2245 | 4942 | 1723 | 2345 | 4 | 622 | 1948 | 464 | 2268 | 7281 | 6454 | 52 | 3708 | 847 | 1731 | 1612 | 171 |
RefSeq Transcripts | NG_012193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC002115 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK312140 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC001015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC002478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT006945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR456789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR542137 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D28426 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB443544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X13923 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X54473 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X58139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000392201 ⟹ ENSP00000376037 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000590618 ⟹ ENSP00000467776 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000592141 ⟹ ENSP00000466818 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000649813 ⟹ ENSP00000497926 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000652250 ⟹ ENSP00000498883 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001863 ⟹ NP_001854 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001854 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAB57628 | (Get FASTA) | NCBI Sequence Viewer |
AAH01015 | (Get FASTA) | NCBI Sequence Viewer | |
AAH02478 | (Get FASTA) | NCBI Sequence Viewer | |
AAP35591 | (Get FASTA) | NCBI Sequence Viewer | |
BAA05792 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35076 | (Get FASTA) | NCBI Sequence Viewer | |
CAA32114 | (Get FASTA) | NCBI Sequence Viewer | |
CAA38352 | (Get FASTA) | NCBI Sequence Viewer | |
CAA41147 | (Get FASTA) | NCBI Sequence Viewer | |
CAG33070 | (Get FASTA) | NCBI Sequence Viewer | |
CAG46934 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000376037.2 | ||
ENSP00000466818.2 | |||
ENSP00000467776.2 | |||
ENSP00000497926 | |||
ENSP00000497926.1 | |||
ENSP00000498883.1 | |||
GenBank Protein | P14854 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001854 ⟸ NM_001863 |
- UniProtKB: | B2R5C9 (UniProtKB/Swiss-Prot), Q6IBL4 (UniProtKB/Swiss-Prot), P14854 (UniProtKB/Swiss-Prot) |
- Sequence: |
Ensembl Acc Id: | ENSP00000497926 ⟸ ENST00000649813 |
Ensembl Acc Id: | ENSP00000498883 ⟸ ENST00000652250 |
Ensembl Acc Id: | ENSP00000376037 ⟸ ENST00000392201 |
Ensembl Acc Id: | ENSP00000467776 ⟸ ENST00000590618 |
Ensembl Acc Id: | ENSP00000466818 ⟸ ENST00000592141 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P14854-F1-model_v2 | AlphaFold | P14854 | 1-86 | view protein structure |
RGD ID: | 7239549 | ||||||||
Promoter ID: | EPDNEW_H25521 | ||||||||
Type: | initiation region | ||||||||
Name: | COX6B1_2 | ||||||||
Description: | cytochrome c oxidase subunit 6B1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H25522 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 7239551 | ||||||||
Promoter ID: | EPDNEW_H25522 | ||||||||
Type: | initiation region | ||||||||
Name: | COX6B1_1 | ||||||||
Description: | cytochrome c oxidase subunit 6B1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H25521 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6795433 | ||||||||
Promoter ID: | HG_KWN:29669 | ||||||||
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: | ENST00000392201, NM_001863 | ||||||||
Position: |
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RGD ID: | 6851874 | ||||||||
Promoter ID: | EP73743 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_COX6B | ||||||||
Description: | Cytochrome c oxidase subunit VIb , nuclear gene encodingmitochondrial protein. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | NEDO full length human cDNA sequencing project.; Oligo-capping | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:2280 | AgrOrtholog |
COSMIC | COX6B1 | COSMIC |
Ensembl Genes | ENSG00000126267 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000392201.1 | UniProtKB/Swiss-Prot |
ENST00000590618.1 | UniProtKB/TrEMBL | |
ENST00000592141.6 | UniProtKB/Swiss-Prot | |
ENST00000649813 | ENTREZGENE | |
ENST00000649813.2 | UniProtKB/Swiss-Prot | |
ENST00000652250.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.10.140 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000126267 | GTEx |
HGNC ID | HGNC:2280 | ENTREZGENE |
Human Proteome Map | COX6B1 | Human Proteome Map |
InterPro | COX6B-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cyt_c_oxidase_su6B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cyt_c_oxidase_su6B_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:1340 | UniProtKB/Swiss-Prot |
NCBI Gene | 1340 | ENTREZGENE |
OMIM | 124089 | OMIM |
PANTHER | CYTOCHROME C OXIDASE SUBUNIT 6B1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR11387 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | COX6B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA26797 | PharmGKB |
PIRSF | Cyt_c_oxidase_6B | UniProtKB/Swiss-Prot |
PROSITE | CHCH | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF47694 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A494C160_HUMAN | UniProtKB/TrEMBL |
B2R5C9 | ENTREZGENE | |
CX6B1_HUMAN | UniProtKB/Swiss-Prot | |
K7EQD3_HUMAN | UniProtKB/TrEMBL | |
P14854 | ENTREZGENE | |
Q6IBL4 | ENTREZGENE | |
UniProt Secondary | B2R5C9 | UniProtKB/Swiss-Prot |
Q6IBL4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-16 | COX6B1 | cytochrome c oxidase subunit 6B1 | COX6B1 | cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) | Symbol and/or name change | 5135510 | APPROVED |
2011-07-27 | COX6B1 | cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) | COX6B1 | cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous) | Symbol and/or name change | 5135510 | APPROVED |