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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | multiple mitochondrial dysfunctions syndrome 5 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | multiple mitochondrial dysfunctions syndrome 5 | | IAGP | | 7240710 | | OMIM | | |
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1. | Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19. |
2. | RGD automated import pipeline for gene-chemical interactions |
PMID:8125298 | PMID:8619474 | PMID:9110174 | PMID:12477932 | PMID:14702039 | PMID:15164053 | PMID:15262227 | PMID:15489334 | PMID:19322201 | PMID:19656490 | PMID:19864422 | PMID:20186120 |
PMID:20302570 | PMID:20877624 | PMID:21873635 | PMID:22323289 | PMID:24217246 | PMID:24733926 | PMID:26186194 | PMID:26496610 | PMID:26638075 | PMID:28356563 | PMID:28380382 | PMID:28514442 |
PMID:28615675 | PMID:29568061 | PMID:30021884 | PMID:30585266 | PMID:31580634 | PMID:32877691 |
ISCA1 (Homo sapiens - human) |
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Isca1 (Mus musculus - house mouse) |
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Isca1 (Rattus norvegicus - Norway rat) |
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Isca1 (Chinchilla lanigera - long-tailed chinchilla) |
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ISCA1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Isca1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ISCA1 (Sus scrofa - pig) |
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ISCA1 (Chlorocebus sabaeus - African green monkey) |
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Isca1 (Heterocephalus glaber - naked mole-rat) |
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G34941 |
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RH66922 |
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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. |
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 | 2348 | 2271 | 1584 | 473 | 1374 | 328 | 4292 | 2062 | 3499 | 403 | 1434 | 1581 | 162 | 1 | 1204 | 2750 | 4 | |
Low | 91 | 719 | 142 | 151 | 576 | 137 | 65 | 135 | 235 | 16 | 26 | 32 | 13 | 38 | 2 | 2 | ||
Below cutoff | 1 | 1 |
RefSeq Acc Id: | ENST00000311534 ⟹ ENSP00000339003 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000326094 ⟹ ENSP00000365157 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000375991 ⟹ ENSP00000365159 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000637705 ⟹ ENSP00000489740 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_030940 ⟹ NP_112202 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NP_112202 ⟸ NM_030940 |
- Peptide Label: | precursor |
- UniProtKB: | Q9BUE6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000489740 ⟸ ENST00000637705 |
RefSeq Acc Id: | ENSP00000365159 ⟸ ENST00000375991 |
RefSeq Acc Id: | ENSP00000339003 ⟸ ENST00000311534 |
RefSeq Acc Id: | ENSP00000365157 ⟸ ENST00000326094 |
RGD ID: | 7215377 | ||||||||
Promoter ID: | EPDNEW_H13435 | ||||||||
Type: | initiation region | ||||||||
Name: | ISCA1_1 | ||||||||
Description: | iron-sulfur cluster assembly 1 | ||||||||
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: | 6807558 | ||||||||
Promoter ID: | HG_KWN:63884 | ||||||||
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: | ENST00000311534, ENST00000326094, OTTHUMT00000052914, UC010MQD.1 | ||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 | copy number gain | See cases [RCV000136788] | Chr9:68420430..106579493 [GRCh38] Chr9:71130848..109341774 [GRCh37] Chr9:70225166..108381595 [NCBI36] Chr9:9q21.11-31.2 |
pathogenic |
GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1 | copy number loss | See cases [RCV000137602] | Chr9:86079851..91827221 [GRCh38] Chr9:88694766..94589503 [GRCh37] Chr9:87884586..93629324 [NCBI36] Chr9:9q21.33-22.31 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q21.33(chr9:84861055-86784049)x1 | copy number loss | See cases [RCV000139131] | Chr9:84861055..86784049 [GRCh38] Chr9:87475970..89398964 [GRCh37] Chr9:86665790..88588784 [NCBI36] Chr9:9q21.33 |
uncertain significance |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 | copy number gain | See cases [RCV000139789] | Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3 |
pathogenic |
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) | single nucleotide variant | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 [RCV000497255]|Multiple mitochondrial dysfunctions syndrome [RCV000508655] | Chr9:86266174 [GRCh38] Chr9:88881089 [GRCh37] Chr9:9q21.33 |
pathogenic |
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 | copy number gain | See cases [RCV000512280] | Chr9:70966262..90761254 [GRCh37] Chr9:9q21.11-22.1 |
pathogenic |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) | copy number gain | not provided [RCV000767645] | Chr9:79520825..97201274 [GRCh37] Chr9:9q21.2-22.32 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_030940.4(ISCA1):c.29T>G (p.Val10Gly) | single nucleotide variant | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 [RCV000857321] | Chr9:86282430 [GRCh38] Chr9:88897345 [GRCh37] Chr9:9q21.33 |
pathogenic |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
GRCh37/hg19 9q21.33(chr9:88622823-88951838)x3 | copy number gain | not provided [RCV001006242] | Chr9:88622823..88951838 [GRCh37] Chr9:9q21.33 |
uncertain significance |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:28660 | AgrOrtholog |
COSMIC | ISCA1 | COSMIC |
Ensembl Genes | ENSG00000135070 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000339003 | UniProtKB/TrEMBL |
ENSP00000365157 | UniProtKB/TrEMBL | |
ENSP00000365159 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000489740 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000311534 | UniProtKB/TrEMBL |
ENST00000326094 | UniProtKB/TrEMBL | |
ENST00000375991 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000637705 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.300.12 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000135070 | GTEx |
HGNC ID | HGNC:28660 | ENTREZGENE |
Human Proteome Map | ISCA1 | Human Proteome Map |
InterPro | FeS_biogenesis | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
FeS_cluster_insertion | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FeS_cluster_insertion_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
HesB-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:81689 | UniProtKB/Swiss-Prot |
NCBI Gene | 81689 | ENTREZGENE |
OMIM | 611006 | OMIM |
617613 | OMIM | |
Pfam | Fe-S_biosyn | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA162392301 | PharmGKB |
PROSITE | HESB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF89360 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TIGRFAMs | TIGR00049 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A1B0GTK6_HUMAN | UniProtKB/TrEMBL |
ISCA1_HUMAN | UniProtKB/Swiss-Prot | |
Q5TBE2_HUMAN | UniProtKB/TrEMBL | |
Q5TBE9_HUMAN | UniProtKB/TrEMBL | |
Q9BUE6 | ENTREZGENE | |
UniProt Secondary | B3KP34 | UniProtKB/Swiss-Prot |
B4DJI5 | UniProtKB/Swiss-Prot | |
Q8ND75 | UniProtKB/Swiss-Prot | |
Q9BZR2 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2013-08-13 | ISCA1 | iron-sulfur cluster assembly 1 | ISCA1 | iron-sulfur cluster assembly 1 homolog (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED |
2013-08-13 | ISCA1 | iron-sulfur cluster assembly 1 | iron-sulfur cluster assembly 1 homolog (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED | |
2011-09-01 | ISCA1 | iron-sulfur cluster assembly 1 homolog (S. cerevisiae) | ISCA1 | iron-sulfur cluster assembly 1 homolog (S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED |