ECI2 (enoyl-CoA delta isomerase 2) - Rat Genome Database

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Gene: ECI2 (enoyl-CoA delta isomerase 2) Homo sapiens
Analyze
Symbol: ECI2
Name: enoyl-CoA delta isomerase 2
RGD ID: 1607074
HGNC Page HGNC:14601
Description: Enables delta(3)-delta(2)-enoyl-CoA isomerase activity. Involved in fatty acid catabolic process. Located in mitochondrion and peroxisomal matrix.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ACBD2; acyl-Coenzyme A binding domain containing 2; D3,D2-enoyl-CoA isomerase; DBI-related protein 1; delta(3),delta(2)-enoyl-CoA isomerase; diazepam-binding inhibitor-related protein 1; dJ1013A10.3; dodecenoyl-CoA isomerase; DRS-1; DRS1; enoyl-CoA delta isomerase 2, mitochondrial; HCA88; hepatocellular carcinoma-associated antigen 88; KIAA0536; PECI; peroxisomal 3,2-trans-enoyl-CoA isomerase; peroxisomal D3,D2-enoyl-CoA isomerase; renal carcinoma antigen NY-REN-1; testicular secretory protein Li 33
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW324_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3864,115,706 - 4,135,575 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl64,115,693 - 4,135,597 (-)EnsemblGRCh38hg38GRCh38
GRCh3764,115,940 - 4,135,809 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3664,060,926 - 4,080,830 (-)NCBINCBI36Build 36hg18NCBI36
Celera65,344,491 - 5,364,393 (-)NCBICelera
Cytogenetic Map6p25.2NCBI
HuRef63,992,233 - 4,012,127 (-)NCBIHuRef
CHM1_164,118,762 - 4,138,665 (-)NCBICHM1_1
T2T-CHM13v2.063,984,995 - 4,004,863 (-)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
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
arsenite(3-)  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
fenamidone  (ISO)
fenofibrate  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
glafenine  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
indometacin  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
leflunomide  (ISO)
Muraglitazar  (ISO)
nickel atom  (EXP)
omeprazole  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
parathion  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
Tesaglitazar  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (TAS)
intracellular membrane-bounded organelle  (IDA)
membrane  (HDA)
mitochondrion  (IBA,IDA,IEA)
peroxisomal matrix  (IDA,IEA,TAS)
peroxisome  (IBA,IDA,IEA,ISO)

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:10354522   PMID:10419495   PMID:10508479   PMID:11230166   PMID:11256614   PMID:11337467   PMID:11916962   PMID:12097419   PMID:12477932   PMID:14574404  
PMID:14702039   PMID:15217832   PMID:15489334   PMID:17192395   PMID:18029348   PMID:19615732   PMID:19834535   PMID:19946888   PMID:20178365   PMID:20877624   PMID:21832049   PMID:21873635  
PMID:22002062   PMID:22261722   PMID:22645313   PMID:22939629   PMID:23251661   PMID:23455924   PMID:23824909   PMID:24816252   PMID:25515061   PMID:25544563   PMID:25996949   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26618866   PMID:26972000   PMID:27167610   PMID:27499296   PMID:27609421   PMID:28380382   PMID:28415728   PMID:28514442   PMID:28515276   PMID:28883622  
PMID:29128334   PMID:29331416   PMID:29426014   PMID:29507755   PMID:29568061   PMID:30021884   PMID:30378028   PMID:30471916   PMID:30997501   PMID:31091453   PMID:31586073   PMID:32296183  
PMID:32628020   PMID:32707033   PMID:32877691   PMID:32941674   PMID:33022573   PMID:33306668   PMID:33853758   PMID:33961781   PMID:34079125   PMID:35013218   PMID:35384245   PMID:35831314  
PMID:35944360   PMID:36215168   PMID:36232890   PMID:36597993   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
ECI2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3864,115,706 - 4,135,575 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl64,115,693 - 4,135,597 (-)EnsemblGRCh38hg38GRCh38
GRCh3764,115,940 - 4,135,809 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3664,060,926 - 4,080,830 (-)NCBINCBI36Build 36hg18NCBI36
Celera65,344,491 - 5,364,393 (-)NCBICelera
Cytogenetic Map6p25.2NCBI
HuRef63,992,233 - 4,012,127 (-)NCBIHuRef
CHM1_164,118,762 - 4,138,665 (-)NCBICHM1_1
T2T-CHM13v2.063,984,995 - 4,004,863 (-)NCBIT2T-CHM13v2.0
Eci2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391335,161,731 - 35,211,098 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1335,161,731 - 35,211,079 (-)EnsemblGRCm39 Ensembl
GRCm381334,977,748 - 35,027,115 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1334,977,748 - 35,027,096 (-)EnsemblGRCm38mm10GRCm38
MGSCv371335,069,617 - 35,086,013 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361334,985,214 - 35,001,581 (-)NCBIMGSCv36mm8
Celera1336,108,118 - 36,124,460 (-)NCBICelera
Cytogenetic Map13A3.3NCBI
cM Map1314.23NCBI
Eci2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81730,056,274 - 30,092,169 (+)NCBIGRCr8
mRatBN7.21729,850,884 - 29,886,781 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1729,870,391 - 29,886,781 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1729,697,249 - 29,713,626 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01731,300,993 - 31,317,370 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01729,692,972 - 29,709,349 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01730,556,926 - 30,573,324 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1730,556,884 - 30,639,040 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01732,456,608 - 32,473,006 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41736,198,752 - 36,215,199 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11736,201,592 - 36,218,037 (+)NCBI
Celera1729,440,358 - 29,456,756 (+)NCBICelera
Cytogenetic Map17p12NCBI
Eci2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554659,296,973 - 9,314,942 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554659,297,794 - 9,314,409 (+)NCBIChiLan1.0ChiLan1.0
ECI2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2518,742,235 - 18,762,166 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1614,746,238 - 14,766,104 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v063,948,748 - 3,968,634 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.164,137,612 - 4,157,426 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl64,137,353 - 4,157,538 (-)Ensemblpanpan1.1panPan2
ECI2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1354,349,075 - 4,368,219 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl354,342,214 - 4,366,331 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha354,358,525 - 4,379,268 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0354,411,021 - 4,431,664 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl354,402,727 - 4,431,646 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1354,286,023 - 4,306,883 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0354,307,504 - 4,328,446 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0355,642,089 - 5,662,568 (-)NCBIUU_Cfam_GSD_1.0
Eci2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494620,037,629 - 20,055,228 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365348,306,636 - 8,324,942 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365348,306,669 - 8,323,454 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ECI2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl72,421,054 - 2,446,319 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.172,426,126 - 2,446,172 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.272,506,958 - 2,523,596 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ECI2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11768,034,906 - 68,054,825 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1768,034,939 - 68,054,657 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660444,071,650 - 4,091,575 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eci2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475621,005,073 - 21,021,457 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475621,003,768 - 21,021,461 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ECI2
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1 copy number loss See cases [RCV000050686] Chr6:163083..6062800 [GRCh38]
Chr6:163083..6063033 [GRCh37]
Chr6:108083..6008032 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3 copy number gain See cases [RCV000051870] Chr6:144957..5239181 [GRCh38]
Chr6:144957..5239414 [GRCh37]
Chr6:89957..5184413 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1 copy number loss See cases [RCV000052159] Chr6:107682..4978781 [GRCh38]
Chr6:107682..4979015 [GRCh37]
Chr6:52682..4924014 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:162883-5979198)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052160]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052160]|See cases [RCV000052160] Chr6:162883..5979198 [GRCh38]
Chr6:162883..5979431 [GRCh37]
Chr6:107883..5924430 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1 copy number loss See cases [RCV000052161] Chr6:163083..5875402 [GRCh38]
Chr6:163083..5875635 [GRCh37]
Chr6:108083..5820634 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1 copy number loss See cases [RCV000052163] Chr6:164633..6284237 [GRCh38]
Chr6:164633..6284470 [GRCh37]
Chr6:109633..6229469 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1 copy number loss See cases [RCV000052164] Chr6:164633..5823601 [GRCh38]
Chr6:164633..5823834 [GRCh37]
Chr6:109633..5768833 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 copy number loss See cases [RCV000052165] Chr6:165675..9036034 [GRCh38]
Chr6:165675..9036267 [GRCh37]
Chr6:110675..8981266 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.2(chr6:3417286-4140023)x3 copy number gain See cases [RCV000053339] Chr6:3417286..4140023 [GRCh38]
Chr6:3417520..4140257 [GRCh37]
Chr6:3362519..4085256 [NCBI36]
Chr6:6p25.2		 uncertain significance
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 copy number gain See cases [RCV000136567] Chr6:163083..9525496 [GRCh38]
Chr6:163083..9525729 [GRCh37]
Chr6:108083..9633715 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 copy number loss See cases [RCV000136132] Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1 copy number loss See cases [RCV000137496] Chr6:152634..5315679 [GRCh38]
Chr6:152634..5315912 [GRCh37]
Chr6:97634..5260911 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3		 likely benign
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3 copy number gain See cases [RCV000138716] Chr6:152634..6027547 [GRCh38]
Chr6:152634..6027780 [GRCh37]
Chr6:97634..5972779 [NCBI36]
Chr6:6p25.3-25.1		 likely pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1 copy number loss See cases [RCV000138717] Chr6:152634..6027547 [GRCh38]
Chr6:152634..6027780 [GRCh37]
Chr6:97634..5972779 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 copy number gain See cases [RCV000142295] Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2		 likely pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1 copy number loss See cases [RCV000142299] Chr6:156974..7122759 [GRCh38]
Chr6:156974..7122992 [GRCh37]
Chr6:101974..7067991 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1 copy number loss See cases [RCV000142304] Chr6:156974..4907692 [GRCh38]
Chr6:156974..4907926 [GRCh37]
Chr6:101974..4852925 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1 copy number loss See cases [RCV000142916] Chr6:152634..6289804 [GRCh38]
Chr6:152634..6290037 [GRCh37]
Chr6:97634..6235036 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3 copy number gain See cases [RCV000143375] Chr6:156974..4946857 [GRCh38]
Chr6:156974..4947091 [GRCh37]
Chr6:101974..4892090 [NCBI36]
Chr6:6p25.3-25.1		 uncertain significance
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 copy number gain See cases [RCV000143698] Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1		 likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 copy number loss See cases [RCV000240433] Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1		 pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1 copy number loss See cases [RCV000240475] Chr6:204009..6447311 [GRCh37]
Chr6:6p25.3-25.1		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
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 6p25.3-25.1(chr6:156974-6417749)x1 copy number loss See cases [RCV000511093] Chr6:156974..6417749 [GRCh37]
Chr6:6p25.3-25.1		 pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:2109893-5962832)x1 copy number loss See cases [RCV000510749] Chr6:2109893..5962832 [GRCh37]
Chr6:6p25.3-25.1		 pathogenic
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 copy number gain not provided [RCV000682628] Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3 copy number gain not provided [RCV000682633] Chr6:1860928..8884071 [GRCh37]
Chr6:6p25.3-24.3		 likely pathogenic
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 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 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
NM_206836.3(ECI2):c.51-8A>G single nucleotide variant not provided [RCV000972243] Chr6:4133719 [GRCh38]
Chr6:4133953 [GRCh37]
Chr6:6p25.2		 benign
NM_206836.3(ECI2):c.964C>T (p.Pro322Ser) single nucleotide variant not provided [RCV000963860] Chr6:4117373 [GRCh38]
Chr6:4117607 [GRCh37]
Chr6:6p25.2		 benign
NM_206836.3(ECI2):c.663C>T (p.Ala221=) single nucleotide variant not provided [RCV000963861] Chr6:4126146 [GRCh38]
Chr6:4126380 [GRCh37]
Chr6:6p25.2		 benign
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_206836.3(ECI2):c.35G>A (p.Arg12Gln) single nucleotide variant Inborn genetic diseases [RCV003247214] Chr6:4135526 [GRCh38]
Chr6:4135760 [GRCh37]
Chr6:6p25.2		 likely benign
NM_206836.3(ECI2):c.332A>G (p.Tyr111Cys) single nucleotide variant Inborn genetic diseases [RCV003253036] Chr6:4130541 [GRCh38]
Chr6:4130775 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.46C>A (p.Pro16Thr) single nucleotide variant Inborn genetic diseases [RCV002839704] Chr6:4135515 [GRCh38]
Chr6:4135749 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.661G>A (p.Ala221Thr) single nucleotide variant Inborn genetic diseases [RCV002836848] Chr6:4126148 [GRCh38]
Chr6:4126382 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.1150G>A (p.Val384Met) single nucleotide variant Inborn genetic diseases [RCV002952298] Chr6:4115909 [GRCh38]
Chr6:4116143 [GRCh37]
Chr6:6p25.2		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 copy number gain See cases [RCV002509885] Chr6:820000..21700000 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_206836.3(ECI2):c.490A>G (p.Ile164Val) single nucleotide variant Inborn genetic diseases [RCV002707574] Chr6:4130383 [GRCh38]
Chr6:4130617 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.746T>C (p.Ile249Thr) single nucleotide variant Inborn genetic diseases [RCV002826699] Chr6:4125299 [GRCh38]
Chr6:4125533 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.448A>G (p.Ile150Val) single nucleotide variant Inborn genetic diseases [RCV002787392] Chr6:4130425 [GRCh38]
Chr6:4130659 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.617C>T (p.Thr206Ile) single nucleotide variant Inborn genetic diseases [RCV002788461] Chr6:4126192 [GRCh38]
Chr6:4126426 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.331T>C (p.Tyr111His) single nucleotide variant Inborn genetic diseases [RCV002670226] Chr6:4130542 [GRCh38]
Chr6:4130776 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.203T>C (p.Leu68Pro) single nucleotide variant Inborn genetic diseases [RCV002672571] Chr6:4133559 [GRCh38]
Chr6:4133793 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.14A>G (p.Tyr5Cys) single nucleotide variant Inborn genetic diseases [RCV002656864] Chr6:4135547 [GRCh38]
Chr6:4135781 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.47C>G (p.Pro16Arg) single nucleotide variant Inborn genetic diseases [RCV003191683] Chr6:4135514 [GRCh38]
Chr6:4135748 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.778G>A (p.Val260Met) single nucleotide variant Inborn genetic diseases [RCV003184587] Chr6:4125267 [GRCh38]
Chr6:4125501 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.199G>A (p.Ala67Thr) single nucleotide variant Inborn genetic diseases [RCV003286534] Chr6:4133563 [GRCh38]
Chr6:4133797 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.785C>T (p.Ala262Val) single nucleotide variant Inborn genetic diseases [RCV003370079] Chr6:4125260 [GRCh38]
Chr6:4125494 [GRCh37]
Chr6:6p25.2		 uncertain significance
GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1 copy number loss not specified [RCV003986661] Chr6:156974..4338899 [GRCh37]
Chr6:6p25.3-25.1		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 copy number gain not provided [RCV003484635] Chr6:156975..15478095 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3 copy number gain See cases [RCV000445742] Chr6:156974..8349511 [GRCh37]
Chr6:6p25.3-24.3		 pathogenic
GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1 copy number loss See cases [RCV000510370] Chr6:383951..4183288 [GRCh37]
Chr6:6p25.3-25.2		 pathogenic
NM_206836.3(ECI2):c.580G>A (p.Asp194Asn) single nucleotide variant Inborn genetic diseases [RCV002694080] Chr6:4126229 [GRCh38]
Chr6:4126463 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.884A>C (p.Lys295Thr) single nucleotide variant Inborn genetic diseases [RCV003285611] Chr6:4119187 [GRCh38]
Chr6:4119421 [GRCh37]
Chr6:6p25.2		 uncertain significance
NM_206836.3(ECI2):c.283G>A (p.Ala95Thr) single nucleotide variant Inborn genetic diseases [RCV003365259] Chr6:4130796 [GRCh38]
Chr6:4131030 [GRCh37]
Chr6:6p25.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1779
Count of miRNA genes:574
Interacting mature miRNAs:614
Transcripts:ENST00000361538, ENST00000380118, ENST00000380120, ENST00000380125, ENST00000413766, ENST00000464057, ENST00000464583, ENST00000465828, ENST00000478266, ENST00000489086, ENST00000495548, ENST00000496241
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.

Markers in Region
D6S1142E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3764,116,084 - 4,116,178UniSTSGRCh37
Build 3664,061,083 - 4,061,177RGDNCBI36
Celera65,344,648 - 5,344,742RGD
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map6p25.2UniSTS
HuRef63,992,390 - 3,992,484UniSTS
GeneMap99-GB4 RH Map622.78UniSTS
RH99317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3764,130,572 - 4,130,827UniSTSGRCh37
Build 3664,075,571 - 4,075,826RGDNCBI36
Celera65,359,134 - 5,359,389RGD
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map6p25.2UniSTS
HuRef64,006,875 - 4,007,130UniSTS
GeneMap99-GB4 RH Map622.88UniSTS
RH70427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3764,116,002 - 4,116,171UniSTSGRCh37
Build 3664,061,001 - 4,061,170RGDNCBI36
Celera65,344,566 - 5,344,735RGD
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map6p25.2UniSTS
HuRef63,992,308 - 3,992,477UniSTS
GeneMap99-GB4 RH Map623.08UniSTS
NCBI RH Map615.4UniSTS
D10S16   No map positions available.
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 2363 2357 1721 622 1308 463 4349 2151 3669 401 1418 1580 172 1204 2788 2
Low 68 634 5 2 636 2 8 46 63 18 38 32 3 1 2 2
Below cutoff 8 5 2 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001166010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_028588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF069301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF244138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF257175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL033383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU100345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY297537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM671011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ653836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361538   ⟹   ENSP00000354737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl64,115,706 - 4,135,597 (-)Ensembl
RefSeq Acc Id: ENST00000380118   ⟹   ENSP00000369461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl64,115,706 - 4,135,575 (-)Ensembl
RefSeq Acc Id: ENST00000380120   ⟹   ENSP00000369463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl64,115,702 - 4,135,590 (-)Ensembl
RefSeq Acc Id: ENST00000380125   ⟹   ENSP00000369468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl64,115,693 - 4,135,468 (-)Ensembl
RefSeq Acc Id: ENST00000464057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl64,115,706 - 4,135,575 (-)Ensembl
RefSeq Acc Id: ENST00000464583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl64,115,708 - 4,133,782 (-)Ensembl
RefSeq Acc Id: ENST00000465828   ⟹   ENSP00000420309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl64,115,707 - 4,135,557 (-)Ensembl
RefSeq Acc Id: ENST00000478266   ⟹   ENSP00000417803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl64,115,706 - 4,135,564 (-)Ensembl
RefSeq Acc Id: ENST00000489086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl64,130,318 - 4,135,573 (-)Ensembl
RefSeq Acc Id: ENST00000495548   ⟹   ENSP00000417459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl64,127,814 - 4,135,459 (-)Ensembl
RefSeq Acc Id: ENST00000496241   ⟹   ENSP00000417170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl64,115,700 - 4,135,591 (-)Ensembl
RefSeq Acc Id: NM_001166010   ⟹   NP_001159482
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3864,115,706 - 4,135,468 (-)NCBI
GRCh3764,115,927 - 4,135,831 (-)RGD
Celera65,344,491 - 5,364,393 (-)RGD
HuRef63,992,233 - 4,012,127 (-)RGD
CHM1_164,118,762 - 4,138,536 (-)NCBI
T2T-CHM13v2.063,984,995 - 4,004,756 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006117   ⟹   NP_006108
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3864,115,706 - 4,135,575 (-)NCBI
GRCh3764,115,927 - 4,135,831 (-)RGD
Build 3664,060,926 - 4,080,830 (-)NCBI Archive
Celera65,344,491 - 5,364,393 (-)RGD
HuRef63,992,233 - 4,012,127 (-)RGD
CHM1_164,118,762 - 4,138,665 (-)NCBI
T2T-CHM13v2.063,984,995 - 4,004,863 (-)NCBI
Sequence:
RefSeq Acc Id: NM_206836   ⟹   NP_996667
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3864,115,706 - 4,135,575 (-)NCBI
GRCh3764,115,927 - 4,135,831 (-)RGD
Build 3664,060,926 - 4,080,830 (-)NCBI Archive
Celera65,344,491 - 5,364,393 (-)RGD
HuRef63,992,233 - 4,012,127 (-)RGD
CHM1_164,118,762 - 4,138,665 (-)NCBI
T2T-CHM13v2.063,984,995 - 4,004,863 (-)NCBI
Sequence:
RefSeq Acc Id: NR_028588
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3864,115,706 - 4,135,575 (-)NCBI
GRCh3764,115,927 - 4,135,831 (-)RGD
Celera65,344,491 - 5,364,393 (-)RGD
HuRef63,992,233 - 4,012,127 (-)RGD
CHM1_164,118,762 - 4,138,665 (-)NCBI
T2T-CHM13v2.063,984,995 - 4,004,863 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001159482 (Get FASTA)   NCBI Sequence Viewer  
  NP_006108 (Get FASTA)   NCBI Sequence Viewer  
  NP_996667 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC19317 (Get FASTA)   NCBI Sequence Viewer  
  AAD34173 (Get FASTA)   NCBI Sequence Viewer  
  AAF66247 (Get FASTA)   NCBI Sequence Viewer  
  AAF68974 (Get FASTA)   NCBI Sequence Viewer  
  AAH02668 (Get FASTA)   NCBI Sequence Viewer  
  AAH16781 (Get FASTA)   NCBI Sequence Viewer  
  AAH17474 (Get FASTA)   NCBI Sequence Viewer  
  AAH33841 (Get FASTA)   NCBI Sequence Viewer  
  AAH34702 (Get FASTA)   NCBI Sequence Viewer  
  AEE61170 (Get FASTA)   NCBI Sequence Viewer  
  BAD93154 (Get FASTA)   NCBI Sequence Viewer  
  BAD96337 (Get FASTA)   NCBI Sequence Viewer  
  BAD96723 (Get FASTA)   NCBI Sequence Viewer  
  BAG52068 (Get FASTA)   NCBI Sequence Viewer  
  BAG59575 (Get FASTA)   NCBI Sequence Viewer  
  CAB66577 (Get FASTA)   NCBI Sequence Viewer  
  CAF86353 (Get FASTA)   NCBI Sequence Viewer  
  CAG33049 (Get FASTA)   NCBI Sequence Viewer  
  EAW55158 (Get FASTA)   NCBI Sequence Viewer  
  EAW55159 (Get FASTA)   NCBI Sequence Viewer  
  EAW55160 (Get FASTA)   NCBI Sequence Viewer  
  EAW55161 (Get FASTA)   NCBI Sequence Viewer  
  EAW55162 (Get FASTA)   NCBI Sequence Viewer  
  EAW55163 (Get FASTA)   NCBI Sequence Viewer  
  EAW55164 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354737
  ENSP00000354737.2
  ENSP00000369461
  ENSP00000369461.3
  ENSP00000369463.2
  ENSP00000369468
  ENSP00000369468.2
  ENSP00000417170.2
  ENSP00000417459.1
  ENSP00000417803.2
  ENSP00000420309.1
GenBank Protein O75521 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_996667   ⟸   NM_206836
- Peptide Label: isoform 2
- UniProtKB: Q9NYH7 (UniProtKB/Swiss-Prot),   Q9NQH1 (UniProtKB/Swiss-Prot),   Q9H0T9 (UniProtKB/Swiss-Prot),   Q9BUE9 (UniProtKB/Swiss-Prot),   Q8N0X0 (UniProtKB/Swiss-Prot),   Q7L124 (UniProtKB/Swiss-Prot),   Q5JYK7 (UniProtKB/Swiss-Prot),   Q5JYK5 (UniProtKB/Swiss-Prot),   Q9UN55 (UniProtKB/Swiss-Prot),   O75521 (UniProtKB/Swiss-Prot),   Q53GC8 (UniProtKB/TrEMBL),   Q53HG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006108   ⟸   NM_006117
- Peptide Label: isoform 1
- UniProtKB: A0A0C4DGA2 (UniProtKB/TrEMBL),   Q53GC8 (UniProtKB/TrEMBL),   Q53HG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159482   ⟸   NM_001166010
- Peptide Label: isoform 1
- UniProtKB: A0A0C4DGA2 (UniProtKB/TrEMBL),   Q53GC8 (UniProtKB/TrEMBL),   Q53HG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000417803   ⟸   ENST00000478266
RefSeq Acc Id: ENSP00000420309   ⟸   ENST00000465828
RefSeq Acc Id: ENSP00000354737   ⟸   ENST00000361538
RefSeq Acc Id: ENSP00000417459   ⟸   ENST00000495548
RefSeq Acc Id: ENSP00000417170   ⟸   ENST00000496241
RefSeq Acc Id: ENSP00000369468   ⟸   ENST00000380125
RefSeq Acc Id: ENSP00000369463   ⟸   ENST00000380120
RefSeq Acc Id: ENSP00000369461   ⟸   ENST00000380118
Protein Domains
ACB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75521-F1-model_v2 AlphaFold O75521 1-394 view protein structure

Promoters
RGD ID:6804535
Promoter ID:HG_KWN:52186
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC010JNR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3664,079,359 - 4,079,859 (-)MPROMDB
RGD ID:6804135
Promoter ID:HG_KWN:52187
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:ENST00000380118,   ENST00000380125,   NM_001166010,   OTTHUMT00000039714,   OTTHUMT00000039717,   OTTHUMT00000039718,   OTTHUMT00000039721,   OTTHUMT00000039722,   UC003MWC.1,   UC003MWE.1,   UC003MWG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3664,080,306 - 4,081,437 (-)MPROMDB
RGD ID:6852058
Promoter ID:EP73835
Type:multiple initiation site
Name:HS_PECI
Description:Peroxisomal D3,D2-enoyl-CoA isomerase.
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:
Human AssemblyChrPosition (strand)Source
Build 3664,080,808 - 4,080,868EPD
RGD ID:6871934
Promoter ID:EPDNEW_H9131
Type:initiation region
Name:ECI2_1
Description:enoyl-CoA delta isomerase 2
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
GRCh3864,135,575 - 4,135,635EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14601 AgrOrtholog
COSMIC ECI2 COSMIC
Ensembl Genes ENSG00000198721 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361538 ENTREZGENE
  ENST00000361538.6 UniProtKB/TrEMBL
  ENST00000380118 ENTREZGENE
  ENST00000380118.8 UniProtKB/Swiss-Prot
  ENST00000380120.6 UniProtKB/TrEMBL
  ENST00000380125 ENTREZGENE
  ENST00000380125.6 UniProtKB/TrEMBL
  ENST00000465828.5 UniProtKB/TrEMBL
  ENST00000478266.6 UniProtKB/TrEMBL
  ENST00000495548.1 UniProtKB/TrEMBL
  ENST00000496241 ENTREZGENE
  ENST00000496241.6 UniProtKB/TrEMBL
Gene3D-CATH 1.10.12.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.80.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198721 GTEx
HGNC ID HGNC:14601 ENTREZGENE
Human Proteome Map ECI2 Human Proteome Map
InterPro Acyl-CoA-binding_prot_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA-binding_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA-binding_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ClpP/crotonase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enoyl-CoA_hydra/iso UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Enoyl-CoA_hydra_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10455 UniProtKB/Swiss-Prot
NCBI Gene 10455 ENTREZGENE
OMIM 608024 OMIM
PANTHER ACYL-COA BINDING PROTEIN 3, ISOFORM A-RELATED UniProtKB/TrEMBL
  ACYL-COA-BINDING PROTEIN, ACBP UniProtKB/TrEMBL
  ENOYL-COA DELTA ISOMERASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR43684 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ACBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ECH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33168 PharmGKB
PRINTS ACOABINDINGP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ACB_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACB_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGA2 ENTREZGENE, UniProtKB/TrEMBL
  C9JB63_HUMAN UniProtKB/TrEMBL
  ECI2_HUMAN UniProtKB/Swiss-Prot
  F1LLU7_HUMAN UniProtKB/TrEMBL
  F8W6J1_HUMAN UniProtKB/TrEMBL
  F8WAW4_HUMAN UniProtKB/TrEMBL
  O75521 ENTREZGENE
  Q53GC8 ENTREZGENE, UniProtKB/TrEMBL
  Q53HG3 ENTREZGENE, UniProtKB/TrEMBL
  Q5JYK5 ENTREZGENE
  Q5JYK7 ENTREZGENE
  Q7L124 ENTREZGENE
  Q8N0X0 ENTREZGENE
  Q9BUE9 ENTREZGENE
  Q9H0T9 ENTREZGENE
  Q9NQH1 ENTREZGENE
  Q9NYH7 ENTREZGENE
  Q9UN55 ENTREZGENE
UniProt Secondary Q5JYK5 UniProtKB/Swiss-Prot
  Q5JYK7 UniProtKB/Swiss-Prot
  Q7L124 UniProtKB/Swiss-Prot
  Q8N0X0 UniProtKB/Swiss-Prot
  Q9BUE9 UniProtKB/Swiss-Prot
  Q9H0T9 UniProtKB/Swiss-Prot
  Q9NQH1 UniProtKB/Swiss-Prot
  Q9NYH7 UniProtKB/Swiss-Prot
  Q9UN55 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-01 ECI2  enoyl-CoA delta isomerase 2  ECI2  enoyl-CoA delta isomerase 2  Symbol and/or name change 5135510 APPROVED
2011-07-27 ECI2  enoyl-CoA delta isomerase 2  PECI  peroxisomal D3,D2-enoyl-CoA isomerase  Symbol and/or name change 5135510 APPROVED