ISCU (iron-sulfur cluster assembly enzyme) - Rat Genome Database

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Gene: ISCU (iron-sulfur cluster assembly enzyme) Homo sapiens
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Symbol: ISCU
Name: iron-sulfur cluster assembly enzyme
RGD ID: 1607067
HGNC Page HGNC:29882
Description: Enables molecular adaptor activity; protein homodimerization activity; and zinc ion binding activity. Involved in several processes, including [2Fe-2S] cluster assembly; negative regulation of iron ion import across plasma membrane; and positive regulation of aconitate hydratase activity. Located in cytosol and mitochondrion. Part of mitochondrial [2Fe-2S] assembly complex. Biomarker of clear cell renal cell carcinoma and pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2310020H20Rik; HML; hnifU; iron-sulfur cluster assembly enzyme ISCU; iron-sulfur cluster assembly enzyme ISCU, mitochondrial; iron-sulfur cluster scaffold homolog; IscU iron-sulfur cluster scaffold homolog; ISU2; MGC74517; NIFU; NifU-like N-terminal domain containing; nifU-like N-terminal domain-containing protein; nifU-like protein; NIFUN; nitrogen fixation cluster-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ISCUP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812108,561,463 - 108,569,384 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12108,562,582 - 108,569,368 (+)EnsemblGRCh38hg38GRCh38
GRCh3712108,955,239 - 108,963,160 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612107,480,512 - 107,487,273 (+)NCBINCBI36Build 36hg18NCBI36
Celera12108,625,685 - 108,632,553 (+)NCBICelera
Cytogenetic Map12q23.3NCBI
HuRef12106,020,849 - 106,027,716 (+)NCBIHuRef
CHM1_112108,922,512 - 108,929,380 (+)NCBICHM1_1
T2T-CHM13v2.012108,530,831 - 108,538,753 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. 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. miR-210 is a target of hypoxia-inducible factors 1 and 2 in renal cancer, regulates ISCU and correlates with good prognosis. McCormick RI, etal., Br J Cancer. 2013 Mar 19;108(5):1133-42. doi: 10.1038/bjc.2013.56. Epub 2013 Feb 28.
3. MIR-210 modulates mitochondrial respiration in placenta with preeclampsia. Muralimanoharan S, etal., Placenta. 2012 Oct;33(10):816-23. doi: 10.1016/j.placenta.2012.07.002. Epub 2012 Jul 26.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8875867   PMID:11060020   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15778465   PMID:16091420   PMID:16344560   PMID:16517407   PMID:16527810  
PMID:18296749   PMID:18304497   PMID:18425540   PMID:19567699   PMID:19808020   PMID:19846308   PMID:20206689   PMID:20301757   PMID:20436681   PMID:20498629   PMID:20668094   PMID:20877624  
PMID:21165651   PMID:21298097   PMID:21437321   PMID:21516116   PMID:21801864   PMID:21873635   PMID:22125086   PMID:22897349   PMID:22977270   PMID:23035118   PMID:23508953   PMID:23940031  
PMID:24573684   PMID:24606901   PMID:24927181   PMID:24971490   PMID:25204651   PMID:25416956   PMID:25825391   PMID:26016389   PMID:26100117   PMID:26344197   PMID:26560363   PMID:26702583  
PMID:26749241   PMID:27499296   PMID:27519411   PMID:28007899   PMID:28271877   PMID:28380382   PMID:28514442   PMID:29079705   PMID:29097656   PMID:29309586   PMID:29406711   PMID:29568061  
PMID:29576242   PMID:29676528   PMID:30031876   PMID:31101807   PMID:31515488   PMID:32296183   PMID:32495170   PMID:32877691   PMID:33562493   PMID:33961781   PMID:34079125   PMID:34083449  
PMID:34299191   PMID:34373451   PMID:34800366   PMID:34824239   PMID:35271311   PMID:35563538   PMID:35944360   PMID:36931259   PMID:37225108  


Genomics

Comparative Map Data
ISCU
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812108,561,463 - 108,569,384 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12108,562,582 - 108,569,368 (+)EnsemblGRCh38hg38GRCh38
GRCh3712108,955,239 - 108,963,160 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612107,480,512 - 107,487,273 (+)NCBINCBI36Build 36hg18NCBI36
Celera12108,625,685 - 108,632,553 (+)NCBICelera
Cytogenetic Map12q23.3NCBI
HuRef12106,020,849 - 106,027,716 (+)NCBIHuRef
CHM1_112108,922,512 - 108,929,380 (+)NCBICHM1_1
T2T-CHM13v2.012108,530,831 - 108,538,753 (+)NCBIT2T-CHM13v2.0
Iscu
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395113,910,479 - 113,916,349 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5113,910,809 - 113,916,349 (+)EnsemblGRCm39 Ensembl
GRCm385113,772,418 - 113,778,288 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5113,772,748 - 113,778,288 (+)EnsemblGRCm38mm10GRCm38
MGSCv375114,222,821 - 114,228,291 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365114,033,811 - 114,039,281 (+)NCBIMGSCv36mm8
Celera5110,873,936 - 110,879,406 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map555.55NCBI
Iscu
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81248,512,852 - 48,518,696 (-)NCBIGRCr8
mRatBN7.21242,852,305 - 42,858,150 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1242,852,305 - 42,858,150 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1244,018,678 - 44,024,102 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01244,632,273 - 44,637,697 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01243,692,805 - 43,698,229 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01248,621,454 - 48,627,297 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1248,621,454 - 48,627,297 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01250,403,338 - 50,409,181 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41243,886,419 - 43,892,329 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11243,749,819 - 43,755,677 (-)NCBI
Celera1244,453,913 - 44,459,757 (-)NCBICelera
Cytogenetic Map12q16NCBI
Iscu
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554559,833,924 - 9,841,619 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554559,833,924 - 9,840,547 (+)NCBIChiLan1.0ChiLan1.0
ISCU
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210116,622,727 - 116,629,492 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112116,619,125 - 116,625,859 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012106,132,987 - 106,140,879 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112109,529,162 - 109,537,053 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12109,529,162 - 109,537,053 (+)Ensemblpanpan1.1panPan2
ISCU
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12618,300,800 - 18,307,668 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2618,300,803 - 18,307,652 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2617,492,198 - 17,499,090 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02618,647,123 - 18,654,012 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2618,647,126 - 18,653,991 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12617,701,195 - 17,708,096 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02618,638,137 - 18,645,016 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02618,656,527 - 18,663,400 (-)NCBIUU_Cfam_GSD_1.0
Iscu
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118144,977,307 - 144,983,670 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936769491,530 - 498,692 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936769492,024 - 498,587 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ISCU
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1442,216,111 - 42,222,711 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11442,216,103 - 42,222,570 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21444,761,391 - 44,767,990 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ISCU
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111103,753,175 - 103,760,168 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11103,753,189 - 103,760,364 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037141,335,350 - 141,342,158 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Iscu
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474711,808,640 - 11,816,400 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474711,808,789 - 11,815,269 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ISCU
146 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
ISCU, IVS5, G-C, +382 single nucleotide variant Myopathy with lactic acidosis, hereditary [RCV000000818] Chr12:12q24.1 pathogenic
NM_213595.4(ISCU):c.149G>A (p.Gly50Glu) single nucleotide variant Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV000000819]|not provided [RCV003555882] Chr12:108564313 [GRCh38]
Chr12:108958089 [GRCh37]
Chr12:12q23.3		 pathogenic|likely pathogenic
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 copy number loss See cases [RCV000050807] Chr12:105234677..112194686 [GRCh38]
Chr12:105628455..112632490 [GRCh37]
Chr12:104152585..111116873 [NCBI36]
Chr12:12q23.3-24.13		 pathogenic
GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1 copy number loss See cases [RCV000051320] Chr12:100670616..108583607 [GRCh38]
Chr12:101064394..108977383 [GRCh37]
Chr12:99588525..107501512 [NCBI36]
Chr12:12q23.1-23.3		 pathogenic
NM_213595.4(ISCU):c.27G>T (p.Leu9=) single nucleotide variant not provided [RCV002055572]|not specified [RCV000125425] Chr12:108562649 [GRCh38]
Chr12:108956425 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.3(ISCU):c.14G>A (p.Gly5Glu) single nucleotide variant not provided [RCV000125426] Chr12:108562636 [GRCh38]
Chr12:108956412 [GRCh37]
Chr12:12q23.3		 benign
GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1 copy number loss See cases [RCV000138537] Chr12:105644967..108994840 [GRCh38]
Chr12:106038745..109432645 [GRCh37]
Chr12:104562875..107917026 [NCBI36]
Chr12:12q23.3-24.11		 uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11		 pathogenic
NM_213595.4(ISCU):c.*14G>A single nucleotide variant not specified [RCV000125426] Chr12:108568930 [GRCh38]
Chr12:108962706 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.51G>A (p.Leu17=) single nucleotide variant ISCU-related disorder [RCV003937734]|not provided [RCV000676521]|not specified [RCV000198723] Chr12:108562673 [GRCh38]
Chr12:108956449 [GRCh37]
Chr12:12q23.3		 benign|likely benign
NM_213595.4(ISCU):c.100C>T (p.Leu34Phe) single nucleotide variant not provided [RCV000198748] Chr12:108562722 [GRCh38]
Chr12:108956498 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.339+6dup duplication not provided [RCV000973728]|not specified [RCV000196155] Chr12:108565435..108565436 [GRCh38]
Chr12:108959211..108959212 [GRCh37]
Chr12:12q23.3		 likely pathogenic|benign
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro) single nucleotide variant Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV002492903]|ISCU-related disorder [RCV003927842]|not provided [RCV000585143] Chr12:108562632 [GRCh38]
Chr12:108956408 [GRCh37]
Chr12:12q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_213595.4(ISCU):c.114+17dup duplication Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV001730585]|not provided [RCV001610516]|not specified [RCV000199914] Chr12:108562750..108562751 [GRCh38]
Chr12:108956526..108956527 [GRCh37]
Chr12:12q23.3		 benign|no classifications from unflagged records
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_213595.4(ISCU):c.418+382G>C single nucleotide variant Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV000208760]|not provided [RCV002517413] Chr12:108567650 [GRCh38]
Chr12:108961426 [GRCh37]
Chr12:12q23.3		 pathogenic
NM_213595.4(ISCU):c.115-152T>C single nucleotide variant not provided [RCV000757412] Chr12:108564127 [GRCh38]
Chr12:108957903 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.423G>A (p.Leu141=) single nucleotide variant not provided [RCV000488257] Chr12:108568835 [GRCh38]
Chr12:108962611 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.17C>T (p.Ala6Val) single nucleotide variant not provided [RCV000416263] Chr12:108562639 [GRCh38]
Chr12:108956415 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.228+11T>C single nucleotide variant not provided [RCV002062595]|not specified [RCV000421093] Chr12:108564403 [GRCh38]
Chr12:108958179 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.144C>T (p.Asn48=) single nucleotide variant not provided [RCV002524865]|not specified [RCV000445339] Chr12:108564308 [GRCh38]
Chr12:108958084 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.339+14C>T single nucleotide variant not specified [RCV000421474] Chr12:108565445 [GRCh38]
Chr12:108959221 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.52C>A (p.Leu18Met) single nucleotide variant Inborn genetic diseases [RCV004629209]|not provided [RCV002058901]|not specified [RCV000422277] Chr12:108562674 [GRCh38]
Chr12:108956450 [GRCh37]
Chr12:12q23.3		 benign|uncertain significance
NM_213595.4(ISCU):c.229-5T>C single nucleotide variant not provided [RCV002061407]|not specified [RCV000429495] Chr12:108565316 [GRCh38]
Chr12:108959092 [GRCh37]
Chr12:12q23.3		 benign|likely benign
NM_213595.4(ISCU):c.*13C>T single nucleotide variant not specified [RCV000422916] Chr12:108568929 [GRCh38]
Chr12:108962705 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.165A>G (p.Thr55=) single nucleotide variant not provided [RCV002062768]|not specified [RCV000444698] Chr12:108564329 [GRCh38]
Chr12:108958105 [GRCh37]
Chr12:12q23.3		 likely benign
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1 copy number loss See cases [RCV000445832] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q23.3-24.11(chr12:108917234-109052695)x3 copy number gain not provided [RCV003312255] Chr12:108917234..109052695 [GRCh37]
Chr12:12q23.3-24.11		 uncertain significance
NM_213595.4(ISCU):c.291C>T (p.Ser97=) single nucleotide variant not provided [RCV002529650]|not specified [RCV000608848] Chr12:108565383 [GRCh38]
Chr12:108959159 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.-19G>T single nucleotide variant not specified [RCV000614326] Chr12:108562604 [GRCh38]
Chr12:108956380 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.19_20delinsGG (p.Phe7Gly) indel Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV002493118]|not provided [RCV000676517] Chr12:108562641..108562642 [GRCh38]
Chr12:108956417..108956418 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.46C>T (p.Leu16=) single nucleotide variant not provided [RCV000676520] Chr12:108562668 [GRCh38]
Chr12:108956444 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.20T>G (p.Phe7Cys) single nucleotide variant Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV001730706]|not provided [RCV000676518] Chr12:108562642 [GRCh38]
Chr12:108956418 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.35C>T (p.Ala12Val) single nucleotide variant Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV001730707]|not provided [RCV000676519] Chr12:108562657 [GRCh38]
Chr12:108956433 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.448C>T (p.Leu150=) single nucleotide variant ISCU-related disorder [RCV003965431]|not provided [RCV000676522] Chr12:108568860 [GRCh38]
Chr12:108962636 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.475C>G (p.Pro159Ala) single nucleotide variant not provided [RCV000676523] Chr12:108568887 [GRCh38]
Chr12:108962663 [GRCh37]
Chr12:12q23.3		 likely benign|uncertain significance
NM_213595.4(ISCU):c.418+249C>T single nucleotide variant not provided [RCV001609250] Chr12:108567517 [GRCh38]
Chr12:108961293 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.340-230T>A single nucleotide variant not provided [RCV001541178] Chr12:108566960 [GRCh38]
Chr12:108960736 [GRCh37]
Chr12:12q23.3		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_213595.4(ISCU):c.*237A>T single nucleotide variant not provided [RCV001668751] Chr12:108569153 [GRCh38]
Chr12:108962929 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.418+339A>G single nucleotide variant not provided [RCV001609464] Chr12:108567607 [GRCh38]
Chr12:108961383 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.19T>G (p.Phe7Val) single nucleotide variant Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV001730741]|not provided [RCV000947483] Chr12:108562641 [GRCh38]
Chr12:108956417 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.25C>T (p.Leu9=) single nucleotide variant not provided [RCV000914128] Chr12:108562647 [GRCh38]
Chr12:108956423 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.419-125T>C single nucleotide variant not provided [RCV000837157] Chr12:108568706 [GRCh38]
Chr12:108962482 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.418+184A>G single nucleotide variant not provided [RCV000831627] Chr12:108567452 [GRCh38]
Chr12:108961228 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.340-188A>G single nucleotide variant not provided [RCV000841955] Chr12:108567002 [GRCh38]
Chr12:108960778 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.419-239G>A single nucleotide variant not provided [RCV000841957] Chr12:108568592 [GRCh38]
Chr12:108962368 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.419-209C>G single nucleotide variant not provided [RCV000841958] Chr12:108568622 [GRCh38]
Chr12:108962398 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.228+271T>C single nucleotide variant not provided [RCV000844304] Chr12:108564663 [GRCh38]
Chr12:108958439 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.114+183C>T single nucleotide variant not provided [RCV000839670] Chr12:108562919 [GRCh38]
Chr12:108956695 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.399C>G (p.Pro133=) single nucleotide variant not provided [RCV001200090] Chr12:108567249 [GRCh38]
Chr12:108961025 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.114+98C>G single nucleotide variant not provided [RCV001663345] Chr12:108562834 [GRCh38]
Chr12:108956610 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.445G>A (p.Ala149Thr) single nucleotide variant Myopathy [RCV001553539]|not provided [RCV001882635] Chr12:108568857 [GRCh38]
Chr12:108962633 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.419-12C>T single nucleotide variant not provided [RCV001534420] Chr12:108568819 [GRCh38]
Chr12:108962595 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.228+172C>T single nucleotide variant not provided [RCV001717648] Chr12:108564564 [GRCh38]
Chr12:108958340 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.418+158A>G single nucleotide variant not provided [RCV001639169] Chr12:108567426 [GRCh38]
Chr12:108961202 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.419-162C>T single nucleotide variant Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV002501994]|not provided [RCV001657424] Chr12:108568669 [GRCh38]
Chr12:108962445 [GRCh37]
Chr12:12q23.3		 benign|likely benign
NM_213595.3(ISCU):c.-101T>C single nucleotide variant not provided [RCV001667168] Chr12:108562522 [GRCh38]
Chr12:108956298 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.339+142A>G single nucleotide variant not provided [RCV001530715] Chr12:108565573 [GRCh38]
Chr12:108959349 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.340-60G>T single nucleotide variant not provided [RCV001677280] Chr12:108567130 [GRCh38]
Chr12:108960906 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.419-37C>T single nucleotide variant not provided [RCV001656868] Chr12:108568794 [GRCh38]
Chr12:108962570 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.39A>C (p.Ala13=) single nucleotide variant ISCU-related disorder [RCV003966187]|not provided [RCV001557749] Chr12:108562661 [GRCh38]
Chr12:108956437 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.89C>T (p.Ala30Val) single nucleotide variant not provided [RCV000994968] Chr12:108562711 [GRCh38]
Chr12:108956487 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.3(ISCU):c.-42C>T single nucleotide variant not provided [RCV001651454] Chr12:108562581 [GRCh38]
Chr12:108956357 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.3(ISCU):c.-311T>C single nucleotide variant not provided [RCV001720825] Chr12:108562312 [GRCh38]
Chr12:108956088 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.*235G>A single nucleotide variant not provided [RCV001595637] Chr12:108569151 [GRCh38]
Chr12:108962927 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.3(ISCU):c.-314G>C single nucleotide variant not provided [RCV001655966] Chr12:108562309 [GRCh38]
Chr12:108956085 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.115-246G>T single nucleotide variant not provided [RCV001598614] Chr12:108564033 [GRCh38]
Chr12:108957809 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.418+779G>A single nucleotide variant not provided [RCV001611762] Chr12:108568047 [GRCh38]
Chr12:108961823 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.228+210C>T single nucleotide variant not provided [RCV001584601] Chr12:108564602 [GRCh38]
Chr12:108958378 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.418+310T>C single nucleotide variant not provided [RCV001649361] Chr12:108567578 [GRCh38]
Chr12:108961354 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.3(ISCU):c.-259delC deletion not provided [RCV001725068] Chr12:108562362 [GRCh38]
Chr12:108956138 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.3(ISCU):c.-555A>G single nucleotide variant not provided [RCV001651680] Chr12:108562068 [GRCh38]
Chr12:108955844 [GRCh37]
Chr12:12q23.3		 benign
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1 copy number loss not provided [RCV001259630] Chr12:106498814..112252906 [GRCh37]
Chr12:12q23.3-24.12		 pathogenic
GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1 copy number loss not provided [RCV001270637] Chr12:107197584..109830564 [GRCh37]
Chr12:12q23.3-24.11		 uncertain significance
NM_213595.4(ISCU):c.207T>C (p.Cys69=) single nucleotide variant not provided [RCV001311313] Chr12:108564371 [GRCh38]
Chr12:108958147 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.338_339+2del deletion not provided [RCV001909952] Chr12:108565430..108565433 [GRCh38]
Chr12:108959206..108959209 [GRCh37]
Chr12:12q23.3		 pathogenic|uncertain significance
NM_213595.3(ISCU):c.-324C>T single nucleotide variant not provided [RCV001534176] Chr12:108562299 [GRCh38]
Chr12:108956075 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.3(ISCU):c.-490A>G single nucleotide variant not provided [RCV001535135] Chr12:108562133 [GRCh38]
Chr12:108955909 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.3(ISCU):c.-394C>G single nucleotide variant not provided [RCV001716223] Chr12:108562229 [GRCh38]
Chr12:108956005 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.3(ISCU):c.-517C>T single nucleotide variant not provided [RCV001649650] Chr12:108562106 [GRCh38]
Chr12:108955882 [GRCh37]
Chr12:12q23.3		 benign
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1 copy number loss not provided [RCV001834231] Chr12:104230462..111984801 [GRCh37]
Chr12:12q23.3-24.12		 pathogenic
NM_213595.4(ISCU):c.41C>T (p.Ser14Leu) single nucleotide variant not provided [RCV002002688] Chr12:108562663 [GRCh38]
Chr12:108956439 [GRCh37]
Chr12:12q23.3		 uncertain significance
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805) copy number loss not specified [RCV002053016] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11		 likely pathogenic
NM_213595.4(ISCU):c.38C>T (p.Ala13Val) single nucleotide variant Inborn genetic diseases [RCV002556387]|not provided [RCV001945251] Chr12:108562660 [GRCh38]
Chr12:108956436 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.336G>C (p.Lys112Asn) single nucleotide variant not provided [RCV002021982] Chr12:108565428 [GRCh38]
Chr12:108959204 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV001947111] Chr12:108562627 [GRCh38]
Chr12:108956403 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.79G>C (p.Glu27Gln) single nucleotide variant not provided [RCV001954996] Chr12:108562701 [GRCh38]
Chr12:108956477 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.498G>C (p.Lys166Asn) single nucleotide variant Inborn genetic diseases [RCV004041857]|not provided [RCV001936364] Chr12:108568910 [GRCh38]
Chr12:108962686 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.22C>T (p.Arg8Cys) single nucleotide variant Inborn genetic diseases [RCV004046208]|not provided [RCV002013426] Chr12:108562644 [GRCh38]
Chr12:108956420 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.31C>T (p.Arg11Trp) single nucleotide variant not provided [RCV001935272] Chr12:108562653 [GRCh38]
Chr12:108956429 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.228+1G>A single nucleotide variant not provided [RCV001875087] Chr12:108564393 [GRCh38]
Chr12:108958169 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.338C>A (p.Thr113Lys) single nucleotide variant not provided [RCV001867607] Chr12:108565430 [GRCh38]
Chr12:108959206 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.32G>C (p.Arg11Pro) single nucleotide variant Inborn genetic diseases [RCV003365542]|not provided [RCV001915691] Chr12:108562654 [GRCh38]
Chr12:108956430 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.306C>G (p.Ser102Arg) single nucleotide variant not provided [RCV002033973] Chr12:108565398 [GRCh38]
Chr12:108959174 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.145G>A (p.Val49Met) single nucleotide variant Inborn genetic diseases [RCV004039688]|not provided [RCV001904369] Chr12:108564309 [GRCh38]
Chr12:108958085 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.22C>A (p.Arg8Ser) single nucleotide variant not provided [RCV002012590] Chr12:108562644 [GRCh38]
Chr12:108956420 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.382_383delinsCT (p.Glu128Leu) indel not provided [RCV001992867] Chr12:108567232..108567233 [GRCh38]
Chr12:108961008..108961009 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.19_21delinsGGT (p.Phe7Gly) indel not provided [RCV002049237] Chr12:108562641..108562643 [GRCh38]
Chr12:108956417..108956419 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.339G>A (p.Thr113=) single nucleotide variant not provided [RCV001932858] Chr12:108565431 [GRCh38]
Chr12:108959207 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.90C>T (p.Ala30=) single nucleotide variant not provided [RCV002209058] Chr12:108562712 [GRCh38]
Chr12:108956488 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.9G>A (p.Ala3=) single nucleotide variant not provided [RCV002191345] Chr12:108562631 [GRCh38]
Chr12:108956407 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.246G>A (p.Lys82=) single nucleotide variant not provided [RCV002189988] Chr12:108565338 [GRCh38]
Chr12:108959114 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.229-15_229-14del deletion not provided [RCV002189682] Chr12:108565306..108565307 [GRCh38]
Chr12:108959082..108959083 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.369A>G (p.Thr123=) single nucleotide variant not provided [RCV002210642] Chr12:108567219 [GRCh38]
Chr12:108960995 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.15G>A (p.Gly5=) single nucleotide variant not provided [RCV002147957] Chr12:108562637 [GRCh38]
Chr12:108956413 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.339+12C>G single nucleotide variant not provided [RCV002076699] Chr12:108565443 [GRCh38]
Chr12:108959219 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.30G>A (p.Arg10=) single nucleotide variant not provided [RCV002191216] Chr12:108562652 [GRCh38]
Chr12:108956428 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.228+15T>G single nucleotide variant not provided [RCV002097570] Chr12:108564407 [GRCh38]
Chr12:108958183 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.229-13G>A single nucleotide variant not provided [RCV002195874] Chr12:108565308 [GRCh38]
Chr12:108959084 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.110A>G (p.Lys37Arg) single nucleotide variant not provided [RCV002132096] Chr12:108562732 [GRCh38]
Chr12:108956508 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.114+16_114+17insC insertion not provided [RCV002167274] Chr12:108562752..108562753 [GRCh38]
Chr12:108956528..108956529 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.419-20T>C single nucleotide variant not provided [RCV002150706] Chr12:108568811 [GRCh38]
Chr12:108962587 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.463T>C (p.Leu155=) single nucleotide variant not provided [RCV002100629] Chr12:108568875 [GRCh38]
Chr12:108962651 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.418+12C>T single nucleotide variant not provided [RCV002138260] Chr12:108567280 [GRCh38]
Chr12:108961056 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.49C>T (p.Leu17=) single nucleotide variant not provided [RCV002102270] Chr12:108562671 [GRCh38]
Chr12:108956447 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.340-9G>T single nucleotide variant not provided [RCV002137592] Chr12:108567181 [GRCh38]
Chr12:108960957 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.419-4C>G single nucleotide variant not provided [RCV002141490] Chr12:108568827 [GRCh38]
Chr12:108962603 [GRCh37]
Chr12:12q23.3		 likely benign
NC_000012.11:g.(?_108956399)_(108962692_?)dup duplication not provided [RCV003114114] Chr12:108956399..108962692 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.191T>C (p.Val64Ala) single nucleotide variant not provided [RCV003112657] Chr12:108564355 [GRCh38]
Chr12:108958131 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.92C>T (p.Pro31Leu) single nucleotide variant not provided [RCV002269672] Chr12:108562714 [GRCh38]
Chr12:108956490 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.12T>G (p.Ala4=) single nucleotide variant not provided [RCV002262393] Chr12:108562634 [GRCh38]
Chr12:108956410 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.368_369del (p.Thr123fs) microsatellite Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV003131273] Chr12:108567215..108567216 [GRCh38]
Chr12:108960991..108960992 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.43G>A (p.Ala15Thr) single nucleotide variant Inborn genetic diseases [RCV002945869]|not provided [RCV003111725] Chr12:108562665 [GRCh38]
Chr12:108956441 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.400G>A (p.Val134Met) single nucleotide variant Inborn genetic diseases [RCV002861124] Chr12:108567250 [GRCh38]
Chr12:108961026 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.292G>A (p.Ala98Thr) single nucleotide variant not provided [RCV002731588] Chr12:108565384 [GRCh38]
Chr12:108959160 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.118G>C (p.Val40Leu) single nucleotide variant not provided [RCV002907811] Chr12:108564282 [GRCh38]
Chr12:108958058 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.309A>G (p.Ser103=) single nucleotide variant not provided [RCV002617222] Chr12:108565401 [GRCh38]
Chr12:108959177 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.445G>T (p.Ala149Ser) single nucleotide variant Inborn genetic diseases [RCV002905895] Chr12:108568857 [GRCh38]
Chr12:108962633 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.339+7T>C single nucleotide variant not provided [RCV002695303] Chr12:108565438 [GRCh38]
Chr12:108959214 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.294A>C (p.Ala98=) single nucleotide variant not provided [RCV002662985] Chr12:108565386 [GRCh38]
Chr12:108959162 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.228+18del deletion not provided [RCV002659238] Chr12:108564405 [GRCh38]
Chr12:108958181 [GRCh37]
Chr12:12q23.3		 benign
NM_213595.4(ISCU):c.338C>T (p.Thr113Met) single nucleotide variant Inborn genetic diseases [RCV004073170]|not provided [RCV003080165] Chr12:108565430 [GRCh38]
Chr12:108959206 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.143A>C (p.Asn48Thr) single nucleotide variant not provided [RCV002705628] Chr12:108564307 [GRCh38]
Chr12:108958083 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.14G>C (p.Gly5Ala) single nucleotide variant not provided [RCV002619623] Chr12:108562636 [GRCh38]
Chr12:108956412 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.129T>C (p.Tyr43=) single nucleotide variant not provided [RCV002791180] Chr12:108564293 [GRCh38]
Chr12:108958069 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.494A>G (p.Glu165Gly) single nucleotide variant Inborn genetic diseases [RCV002874530] Chr12:108568906 [GRCh38]
Chr12:108962682 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.444C>T (p.Ala148=) single nucleotide variant not provided [RCV002595723] Chr12:108568856 [GRCh38]
Chr12:108962632 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.59G>A (p.Ser20Asn) single nucleotide variant not provided [RCV002711145] Chr12:108562681 [GRCh38]
Chr12:108956457 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.27G>C (p.Leu9=) single nucleotide variant not provided [RCV003084737] Chr12:108562649 [GRCh38]
Chr12:108956425 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.59G>T (p.Ser20Ile) single nucleotide variant Inborn genetic diseases [RCV002892106] Chr12:108562681 [GRCh38]
Chr12:108956457 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.436A>G (p.Ile146Val) single nucleotide variant not provided [RCV002666545] Chr12:108568848 [GRCh38]
Chr12:108962624 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.29G>A (p.Arg10Lys) single nucleotide variant not provided [RCV002601728] Chr12:108562651 [GRCh38]
Chr12:108956427 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.314C>G (p.Ala105Gly) single nucleotide variant Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV003134452]|not provided [RCV002581246] Chr12:108565406 [GRCh38]
Chr12:108959182 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.223_224del (p.Leu75fs) deletion not provided [RCV003030354] Chr12:108564387..108564388 [GRCh38]
Chr12:108958163..108958164 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.85T>G (p.Ser29Ala) single nucleotide variant Inborn genetic diseases [RCV002792285] Chr12:108562707 [GRCh38]
Chr12:108956483 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.328A>G (p.Lys110Glu) single nucleotide variant not provided [RCV002962285] Chr12:108565420 [GRCh38]
Chr12:108959196 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.22C>G (p.Arg8Gly) single nucleotide variant not provided [RCV002715388] Chr12:108562644 [GRCh38]
Chr12:108956420 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.138T>C (p.Pro46=) single nucleotide variant not provided [RCV002835202] Chr12:108564302 [GRCh38]
Chr12:108958078 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.27G>A (p.Leu9=) single nucleotide variant not provided [RCV002601727] Chr12:108562649 [GRCh38]
Chr12:108956425 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.333A>G (p.Gly111=) single nucleotide variant not provided [RCV003063621] Chr12:108565425 [GRCh38]
Chr12:108959201 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.340-4_340-3del microsatellite not provided [RCV002938406] Chr12:108567183..108567184 [GRCh38]
Chr12:108960959..108960960 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.114+20G>T single nucleotide variant not provided [RCV002653544] Chr12:108562756 [GRCh38]
Chr12:108956532 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.150G>A (p.Gly50=) single nucleotide variant not provided [RCV002942296] Chr12:108564314 [GRCh38]
Chr12:108958090 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.340-14A>G single nucleotide variant not provided [RCV002653853] Chr12:108567176 [GRCh38]
Chr12:108960952 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.213C>T (p.Asp71=) single nucleotide variant not provided [RCV002590251] Chr12:108564377 [GRCh38]
Chr12:108958153 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.484G>T (p.Gly162Ter) single nucleotide variant Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV003133722] Chr12:108568896 [GRCh38]
Chr12:108962672 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.442G>T (p.Ala148Ser) single nucleotide variant Inborn genetic diseases [RCV003194826] Chr12:108568854 [GRCh38]
Chr12:108962630 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.418+702T>C single nucleotide variant Hereditary myopathy with lactic acidosis due to ISCU deficiency [RCV003325626] Chr12:108567970 [GRCh38]
Chr12:108961746 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.81G>C (p.Glu27Asp) single nucleotide variant not provided [RCV003332827] Chr12:108562703 [GRCh38]
Chr12:108956479 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.15G>T (p.Gly5=) single nucleotide variant not provided [RCV003571647] Chr12:108562637 [GRCh38]
Chr12:108956413 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.419-16C>T single nucleotide variant not provided [RCV003544558] Chr12:108568815 [GRCh38]
Chr12:108962591 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.35C>G (p.Ala12Gly) single nucleotide variant not provided [RCV003824701] Chr12:108562657 [GRCh38]
Chr12:108956433 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.214G>A (p.Val72Ile) single nucleotide variant not provided [RCV003879670] Chr12:108564378 [GRCh38]
Chr12:108958154 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.115-14C>T single nucleotide variant not provided [RCV003666431] Chr12:108564265 [GRCh38]
Chr12:108958041 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.87G>T (p.Ser29=) single nucleotide variant not provided [RCV003838554] Chr12:108562709 [GRCh38]
Chr12:108956485 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.40T>A (p.Ser14Thr) single nucleotide variant not provided [RCV003664826] Chr12:108562662 [GRCh38]
Chr12:108956438 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.114+13G>A single nucleotide variant not provided [RCV003683159] Chr12:108562749 [GRCh38]
Chr12:108956525 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.15G>C (p.Gly5=) single nucleotide variant not provided [RCV003861279] Chr12:108562637 [GRCh38]
Chr12:108956413 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.419-11G>C single nucleotide variant not provided [RCV003709754] Chr12:108568820 [GRCh38]
Chr12:108962596 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.419-9T>C single nucleotide variant ISCU-related disorder [RCV003966709]|not provided [RCV003847851] Chr12:108568822 [GRCh38]
Chr12:108962598 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.114+17_114+18insT insertion not provided [RCV003844161] Chr12:108562753..108562754 [GRCh38]
Chr12:108956529..108956530 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.418+689G>A single nucleotide variant ISCU-related disorder [RCV003967047] Chr12:108567957 [GRCh38]
Chr12:108961733 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.418+383A>G single nucleotide variant ISCU-related disorder [RCV003976400] Chr12:108567651 [GRCh38]
Chr12:108961427 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.418+643C>T single nucleotide variant ISCU-related disorder [RCV003959416] Chr12:108567911 [GRCh38]
Chr12:108961687 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.418+409A>G single nucleotide variant ISCU-related disorder [RCV003949291] Chr12:108567677 [GRCh38]
Chr12:108961453 [GRCh37]
Chr12:12q23.3		 likely benign
NM_213595.4(ISCU):c.149G>C (p.Gly50Ala) single nucleotide variant Inborn genetic diseases [RCV004403391] Chr12:108564313 [GRCh38]
Chr12:108958089 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.217A>G (p.Met73Val) single nucleotide variant Inborn genetic diseases [RCV004633258] Chr12:108564381 [GRCh38]
Chr12:108958157 [GRCh37]
Chr12:12q23.3		 uncertain significance
NM_213595.4(ISCU):c.363A>T (p.Lys121Asn) single nucleotide variant Inborn genetic diseases [RCV004633259] Chr12:108567213 [GRCh38]
Chr12:108960989 [GRCh37]
Chr12:12q23.3		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pMirtarbaseexternal_infoImmunoblot//Immunohistochemistry//Luciferase reporFunctional MTI20480266
MIR210hsa-miR-210-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19808020
MIR210hsa-miR-210-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIR210hsa-miR-210-3pOncomiRDBexternal_infoNANA22896707
MIR210hsa-miR-210-3pOncomiRDBexternal_infoNANA20498629
MIR210hsa-miR-210-3pOncomiRDBexternal_infoNANA20436681

Predicted Target Of
Summary Value
Count of predictions:2822
Count of miRNA genes:878
Interacting mature miRNAs:997
Transcripts:ENST00000311893, ENST00000338291, ENST00000392807, ENST00000431221, ENST00000535405, ENST00000535729, ENST00000538193, ENST00000539580, ENST00000539593, ENST00000540154, ENST00000544493, ENST00000545932, ENST00000547005, ENST00000552072
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
1559125SPSL2_HSerum P-selectin level QTL 2 (human)2.59Serum P-selectin level1289897665115897665Human
1298449UAE2_HUrinary albumin excretion QTL 2 (human)20.005Urinary albumin excretionurine albumin:creatinine ratio (ACR)12102836889128836889Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
1643452BW104_HBody weight QTL 104 (human)1.890.005Body fat amountabdominal visceral12102395874128395874Human
1357361BW37_HBody weight QTL 37 (human)4.080.00001Body fat amount12102836889116423339Human
1643264BW195_HBody weight QTL 195 (human)0.0151Body weightBMI1289897665115897665Human
1357387BW58_HBody weight QTL 58 (human)2.30.0001Body weightfat free mass after exercise training1289438856115438856Human
1358827MULTSCL22_HMultiple sclerosis susceptibility QTL 22 (human)Multiple sclerosis susceptibility1289897665115897665Human

Markers in Region
RH25375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,954,722 - 108,954,837UniSTSGRCh37
Build 3612107,478,852 - 107,478,967RGDNCBI36
Celera12108,624,112 - 108,624,227RGD
Cytogenetic Map12q24.1UniSTS
HuRef12106,019,276 - 106,019,391UniSTS
D12S1907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712108,962,942 - 108,963,071UniSTSGRCh37
Build 3612107,487,071 - 107,487,200RGDNCBI36
Celera12108,632,334 - 108,632,463RGD
Cytogenetic Map12q24.1UniSTS
HuRef12106,027,498 - 106,027,627UniSTS
TNG Radiation Hybrid Map1253316.0UniSTS
Stanford-G3 RH Map124657.0UniSTS
NCBI RH Map12708.1UniSTS
GeneMap99-G3 RH Map124603.0UniSTS
G20365  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q24.1UniSTS
A005N44  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q24.1UniSTS
GeneMap99-GB4 RH Map12428.95UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_213595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY009127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY009128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC061903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG621612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG702203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI597126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM423850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM921073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP378051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ002528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ020993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU602914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB095495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB493673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU329002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU334585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ695196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY269565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000311893   ⟹   ENSP00000310623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,562,596 - 108,569,368 (+)Ensembl
Ensembl Acc Id: ENST00000392807   ⟹   ENSP00000376554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,562,606 - 108,569,368 (+)Ensembl
Ensembl Acc Id: ENST00000431221   ⟹   ENSP00000411108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,562,601 - 108,569,092 (+)Ensembl
Ensembl Acc Id: ENST00000535405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,562,617 - 108,567,444 (+)Ensembl
Ensembl Acc Id: ENST00000535729   ⟹   ENSP00000445598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,562,601 - 108,568,547 (+)Ensembl
Ensembl Acc Id: ENST00000538193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,567,858 - 108,569,094 (+)Ensembl
Ensembl Acc Id: ENST00000539580   ⟹   ENSP00000437854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,562,606 - 108,569,368 (+)Ensembl
Ensembl Acc Id: ENST00000539593   ⟹   ENSP00000443272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,562,610 - 108,567,908 (+)Ensembl
Ensembl Acc Id: ENST00000540154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,567,734 - 108,569,094 (+)Ensembl
Ensembl Acc Id: ENST00000544493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,564,999 - 108,567,299 (+)Ensembl
Ensembl Acc Id: ENST00000545932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,562,582 - 108,569,341 (+)Ensembl
Ensembl Acc Id: ENST00000547005   ⟹   ENSP00000446606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,562,601 - 108,569,099 (+)Ensembl
Ensembl Acc Id: ENST00000552072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,562,601 - 108,567,566 (+)Ensembl
RefSeq Acc Id: NM_001301140   ⟹   NP_001288069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,561,463 - 108,569,384 (+)NCBI
CHM1_112108,921,458 - 108,929,380 (+)NCBI
T2T-CHM13v2.012108,530,831 - 108,538,753 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301141   ⟹   NP_001288070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,561,463 - 108,569,384 (+)NCBI
CHM1_112108,921,458 - 108,929,380 (+)NCBI
T2T-CHM13v2.012108,530,831 - 108,538,753 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320042   ⟹   NP_001306971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,561,463 - 108,569,384 (+)NCBI
CHM1_112108,921,458 - 108,929,380 (+)NCBI
T2T-CHM13v2.012108,530,831 - 108,538,753 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014301   ⟹   NP_055116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,561,463 - 108,569,384 (+)NCBI
GRCh3712108,955,239 - 108,963,160 (+)NCBI
Build 3612107,480,512 - 107,487,273 (+)NCBI Archive
HuRef12106,020,849 - 106,027,716 (+)ENTREZGENE
CHM1_112108,921,458 - 108,929,380 (+)NCBI
T2T-CHM13v2.012108,530,831 - 108,538,753 (+)NCBI
Sequence:
RefSeq Acc Id: NM_213595   ⟹   NP_998760
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,562,596 - 108,569,368 (+)NCBI
GRCh3712108,955,239 - 108,963,160 (+)NCBI
Build 3612107,480,512 - 107,487,273 (+)NCBI Archive
HuRef12106,020,849 - 106,027,716 (+)ENTREZGENE
CHM1_112108,921,458 - 108,929,380 (+)NCBI
T2T-CHM13v2.012108,531,963 - 108,538,737 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135127
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,561,463 - 108,569,384 (+)NCBI
CHM1_112108,921,458 - 108,929,380 (+)NCBI
T2T-CHM13v2.012108,530,831 - 108,538,753 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428627   ⟹   XP_047284583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,564,060 - 108,569,384 (+)NCBI
RefSeq Acc Id: XM_054371605   ⟹   XP_054227580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012108,533,428 - 108,538,753 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001288069 (Get FASTA)   NCBI Sequence Viewer  
  NP_001288070 (Get FASTA)   NCBI Sequence Viewer  
  NP_001306971 (Get FASTA)   NCBI Sequence Viewer  
  NP_055116 (Get FASTA)   NCBI Sequence Viewer  
  NP_998760 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284583 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227580 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50885 (Get FASTA)   NCBI Sequence Viewer  
  AAG37427 (Get FASTA)   NCBI Sequence Viewer  
  AAG37428 (Get FASTA)   NCBI Sequence Viewer  
  AAH11906 (Get FASTA)   NCBI Sequence Viewer  
  AAH61903 (Get FASTA)   NCBI Sequence Viewer  
  ACA34743 (Get FASTA)   NCBI Sequence Viewer  
  ACA52543 (Get FASTA)   NCBI Sequence Viewer  
  BAG51892 (Get FASTA)   NCBI Sequence Viewer  
  BAG56742 (Get FASTA)   NCBI Sequence Viewer  
  BAG60191 (Get FASTA)   NCBI Sequence Viewer  
  EAW97818 (Get FASTA)   NCBI Sequence Viewer  
  EAW97819 (Get FASTA)   NCBI Sequence Viewer  
  EAW97820 (Get FASTA)   NCBI Sequence Viewer  
  EAW97821 (Get FASTA)   NCBI Sequence Viewer  
  EAW97822 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000310623
  ENSP00000310623.9
  ENSP00000376554
  ENSP00000376554.4
  ENSP00000411108
  ENSP00000411108.2
  ENSP00000437854.1
  ENSP00000443272.1
  ENSP00000445598
  ENSP00000445598.1
  ENSP00000446606
  ENSP00000446606.1
GenBank Protein Q9H1K1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055116   ⟸   NM_014301
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_998760   ⟸   NM_213595
- Peptide Label: isoform 2 precursor
- UniProtKB: Q99617 (UniProtKB/Swiss-Prot),   Q6P713 (UniProtKB/Swiss-Prot),   Q9H1K2 (UniProtKB/Swiss-Prot),   Q9H1K1 (UniProtKB/Swiss-Prot),   F5H5N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288069   ⟸   NM_001301140
- Peptide Label: isoform 3 precursor
- UniProtKB: B4DNC9 (UniProtKB/TrEMBL),   F5H5N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288070   ⟸   NM_001301141
- Peptide Label: isoform 4 precursor
- UniProtKB: B3KQ30 (UniProtKB/TrEMBL),   F5H5N2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001306971   ⟸   NM_001320042
- Peptide Label: isoform 3 precursor
- UniProtKB: B4DNC9 (UniProtKB/TrEMBL),   F5H5N2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000446606   ⟸   ENST00000547005
Ensembl Acc Id: ENSP00000445598   ⟸   ENST00000535729
Ensembl Acc Id: ENSP00000310623   ⟸   ENST00000311893
Ensembl Acc Id: ENSP00000411108   ⟸   ENST00000431221
Ensembl Acc Id: ENSP00000376554   ⟸   ENST00000392807
Ensembl Acc Id: ENSP00000443272   ⟸   ENST00000539593
Ensembl Acc Id: ENSP00000437854   ⟸   ENST00000539580
RefSeq Acc Id: XP_047284583   ⟸   XM_047428627
- Peptide Label: isoform X1
- UniProtKB: B1P7G3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227580   ⟸   XM_054371605
- Peptide Label: isoform X1
- UniProtKB: B1P7G3 (UniProtKB/TrEMBL)
Protein Domains
NIF system FeS cluster assembly NifU N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H1K1-F1-model_v2 AlphaFold Q9H1K1 1-167 view protein structure

Promoters
RGD ID:6790330
Promoter ID:HG_KWN:16570
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000311893,   NM_014301,   NM_213595,   UC001TND.2,   UC001TNE.2,   UC009ZUY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612107,479,451 - 107,480,587 (+)MPROMDB
RGD ID:6789941
Promoter ID:HG_KWN:16571
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000392807
Position:
Human AssemblyChrPosition (strand)Source
Build 3612107,481,071 - 107,481,592 (+)MPROMDB
RGD ID:6810302
Promoter ID:HG_ACW:18707
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ISCU.LAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3612107,482,581 - 107,483,081 (+)MPROMDB
RGD ID:7225307
Promoter ID:EPDNEW_H18399
Type:initiation region
Name:ISCU_1
Description:iron-sulfur cluster assembly enzyme
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
GRCh3812108,562,604 - 108,562,664EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29882 AgrOrtholog
COSMIC ISCU COSMIC
Ensembl Genes ENSG00000136003 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000311893 ENTREZGENE
  ENST00000311893.14 UniProtKB/Swiss-Prot
  ENST00000392807 ENTREZGENE
  ENST00000392807.8 UniProtKB/Swiss-Prot
  ENST00000431221 ENTREZGENE
  ENST00000431221.6 UniProtKB/TrEMBL
  ENST00000535729 ENTREZGENE
  ENST00000535729.5 UniProtKB/TrEMBL
  ENST00000539580.5 UniProtKB/TrEMBL
  ENST00000539593.1 UniProtKB/TrEMBL
  ENST00000547005 ENTREZGENE
  ENST00000547005.5 UniProtKB/TrEMBL
Gene3D-CATH 3.90.1010.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136003 GTEx
HGNC ID HGNC:29882 ENTREZGENE
Human Proteome Map ISCU Human Proteome Map
InterPro ISC_FeS_clus_asmbl_IscU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NIF_FeS_clus_asmbl_NifU_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23479 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23479 ENTREZGENE
OMIM 611911 OMIM
PANTHER IRON-SULFUR CLUSTER ASSEMBLY ENZYME ISCU, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10093 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NifU_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162392328 PharmGKB
Superfamily-SCOP SufE/NifU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1P7G3 ENTREZGENE, UniProtKB/TrEMBL
  B3KQ30 ENTREZGENE, UniProtKB/TrEMBL
  B4DNC9 ENTREZGENE, UniProtKB/TrEMBL
  F5H5N2 ENTREZGENE, UniProtKB/TrEMBL
  F5H672_HUMAN UniProtKB/TrEMBL
  ISCU_HUMAN UniProtKB/Swiss-Prot
  Q6P713 ENTREZGENE
  Q99617 ENTREZGENE
  Q9H1K1 ENTREZGENE
  Q9H1K2 ENTREZGENE
UniProt Secondary Q6P713 UniProtKB/Swiss-Prot
  Q99617 UniProtKB/Swiss-Prot
  Q9H1K2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-08-20 ISCU  iron-sulfur cluster assembly enzyme  ISCU  iron-sulfur cluster scaffold homolog (E. coli)  Symbol and/or name change 5135510 APPROVED