Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | dilated cardiomyopathy | | ISS | Sdhaf4 (Mus musculus) | 13592920 | | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | dilated cardiomyopathy | | ISS | Sdhaf4 (Mus musculus) | 13592920 | | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:14574404 | PMID:15489334 | PMID:17207965 | PMID:20877624 | PMID:21490949 | PMID:21873635 | PMID:24954416 | PMID:26186194 | PMID:27499296 | PMID:28514442 | PMID:32296183 |
PMID:32694731 | PMID:33961781 | PMID:35831314 | PMID:36672824 |
SDHAF4 (Homo sapiens - human) |
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Sdhaf4 (Mus musculus - house mouse) |
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Sdhaf4 (Rattus norvegicus - Norway rat) |
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Sdhaf4 (Chinchilla lanigera - long-tailed chinchilla) |
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SDHAF4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SDHAF4 (Canis lupus familiaris - dog) |
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Sdhaf4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SDHAF4 (Chlorocebus sabaeus - green monkey) |
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Sdhaf4 (Heterocephalus glaber - naked mole-rat) |
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Variants in SDHAF4
6 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 6q12-13(chr6:68735649-70794393)x4 | copy number gain | See cases [RCV000138053] | Chr6:68735649..70794393 [GRCh38] Chr6:69445541..71504096 [GRCh37] Chr6:69502262..71560817 [NCBI36] Chr6:6q12-13 |
pathogenic |
GRCh38/hg38 6q13(chr6:70252200-70891985)x3 | copy number gain | See cases [RCV000139782] | Chr6:70252200..70891985 [GRCh38] Chr6:70961903..71601688 [GRCh37] Chr6:71018624..71658409 [NCBI36] Chr6:6q13 |
likely benign |
GRCh38/hg38 6q13(chr6:70252257-70855775)x3 | copy number gain | See cases [RCV000141887] | Chr6:70252257..70855775 [GRCh38] Chr6:70961960..71565478 [GRCh37] Chr6:71018681..71622199 [NCBI36] Chr6:6q13 |
uncertain significance |
GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 | copy number loss | See cases [RCV000142527] | Chr6:64549655..83426791 [GRCh38] Chr6:65259548..84136510 [GRCh37] Chr6:65316269..84193229 [NCBI36] Chr6:6q12-14.2 |
pathogenic |
GRCh38/hg38 6q13(chr6:70026943-70923391)x3 | copy number gain | See cases [RCV000143243] | Chr6:70026943..70923391 [GRCh38] Chr6:70736835..71633094 [GRCh37] Chr6:70793556..71689815 [NCBI36] Chr6:6q13 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q13(chr6:70716539-71620525)x3 | copy number gain | See cases [RCV000511284] | Chr6:70716539..71620525 [GRCh37] Chr6:6q13 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) | copy number gain | not provided [RCV000767714] | Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1 |
pathogenic |
GRCh37/hg19 6q12-13(chr6:69481460-73185349)x1 | copy number loss | not provided [RCV000847757] | Chr6:69481460..73185349 [GRCh37] Chr6:6q12-13 |
pathogenic |
NM_145267.3(SDHAF4):c.155A>C (p.Lys52Thr) | single nucleotide variant | Inborn genetic diseases [RCV003291423] | Chr6:70579504 [GRCh38] Chr6:71289207 [GRCh37] Chr6:6q13 |
uncertain significance |
GRCh37/hg19 6q13(chr6:70320224-71568417)x3 | copy number gain | not provided [RCV002472782] | Chr6:70320224..71568417 [GRCh37] Chr6:6q13 |
uncertain significance |
GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1 | copy number loss | not provided [RCV001834215] | Chr6:70165296..79920769 [GRCh37] Chr6:6q13-14.1 |
pathogenic |
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) | copy number gain | not specified [RCV002053581] | Chr6:69938252..94379210 [GRCh37] Chr6:6q12-16.1 |
pathogenic |
GRCh37/hg19 6q13(chr6:71105038-75200617)x1 | copy number loss | Autism [RCV002292213] | Chr6:71105038..75200617 [GRCh37] Chr6:6q13 |
pathogenic |
GRCh37/hg19 6q12-14.1(chr6:64954687-79581678) | copy number loss | Chromosome 6q11-q14 deletion syndrome [RCV002280752] | Chr6:64954687..79581678 [GRCh37] Chr6:6q12-14.1 |
pathogenic |
NM_145267.3(SDHAF4):c.187G>T (p.Asp63Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002907360] | Chr6:70579536 [GRCh38] Chr6:71289239 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_145267.3(SDHAF4):c.10T>A (p.Ser4Thr) | single nucleotide variant | Inborn genetic diseases [RCV002954593] | Chr6:70566950 [GRCh38] Chr6:71276653 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_145267.3(SDHAF4):c.11C>T (p.Ser4Leu) | single nucleotide variant | Inborn genetic diseases [RCV002655209] | Chr6:70566951 [GRCh38] Chr6:71276654 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_145267.3(SDHAF4):c.58G>A (p.Ala20Thr) | single nucleotide variant | Inborn genetic diseases [RCV003200364] | Chr6:70566998 [GRCh38] Chr6:71276701 [GRCh37] Chr6:6q13 |
uncertain significance |
NM_145267.3(SDHAF4):c.27G>T (p.Leu9Phe) | single nucleotide variant | Inborn genetic diseases [RCV003365883] | Chr6:70566967 [GRCh38] Chr6:71276670 [GRCh37] Chr6:6q13 |
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. |
D10S16 | No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D10S16 |
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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 | 606 | 1047 | 1145 | 180 | 744 | 95 | 2978 | 610 | 2785 | 331 | 947 | 1048 | 98 | 1 | 946 | 1734 | 6 | 2 |
Low | 1833 | 1897 | 581 | 444 | 1161 | 370 | 1379 | 1585 | 949 | 88 | 513 | 565 | 76 | 258 | 1054 | |||
Below cutoff | 47 | 46 | 2 |
RefSeq Acc Id: | ENST00000370474 ⟹ ENSP00000359505 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000468640 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_145267 ⟹ NP_660310 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047418210 ⟹ XP_047274166 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_660310 ⟸ NM_145267 |
- Peptide Label: | precursor |
- UniProtKB: | E1P532 (UniProtKB/Swiss-Prot), Q5VUM1 (UniProtKB/Swiss-Prot), I6L976 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000359505 ⟸ ENST00000370474 |
RefSeq Acc Id: | XP_047274166 ⟸ XM_047418210 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5VUM1-F1-model_v2 | AlphaFold | Q5VUM1 | 1-108 | view protein structure |
RGD ID: | 7208453 | ||||||||
Promoter ID: | EPDNEW_H9973 | ||||||||
Type: | initiation region | ||||||||
Name: | SDHAF4_1 | ||||||||
Description: | succinate dehydrogenase complex assembly factor 4 | ||||||||
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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RGD ID: | 6803862 | ||||||||
Promoter ID: | HG_KWN:54052 | ||||||||
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: | OTTHUMT00000041140, OTTHUMT00000041141 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:20957 | AgrOrtholog |
COSMIC | SDHAF4 | COSMIC |
Ensembl Genes | ENSG00000154079 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000370474 | ENTREZGENE |
ENST00000370474.4 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000154079 | GTEx |
HGNC ID | HGNC:20957 | ENTREZGENE |
Human Proteome Map | SDHAF4 | Human Proteome Map |
InterPro | SDHF4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:135154 | UniProtKB/Swiss-Prot |
NCBI Gene | 135154 | ENTREZGENE |
OMIM | 619198 | OMIM |
PANTHER | SUCCINATE DEHYDROGENASE ASSEMBLY FACTOR 4, MITOCHONDRIAL | UniProtKB/Swiss-Prot |
SUCCINATE DEHYDROGENASE ASSEMBLY FACTOR 4, MITOCHONDRIAL | UniProtKB/Swiss-Prot | |
SUCCINATE DEHYDROGENASE ASSEMBLY FACTOR 4, MITOCHONDRIAL | UniProtKB/TrEMBL | |
SUCCINATE DEHYDROGENASE ASSEMBLY FACTOR 4, MITOCHONDRIAL | UniProtKB/TrEMBL | |
Pfam | DUF1674 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA134932684 | PharmGKB |
UniProt | E1P532 | ENTREZGENE |
I6L976 | ENTREZGENE, UniProtKB/TrEMBL | |
Q5VUM1 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | E1P532 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-03-03 | SDHAF4 | succinate dehydrogenase complex assembly factor 4 | C6orf57 | chromosome 6 open reading frame 57 | Symbol and/or name change | 5135510 | APPROVED |