CIDEA (cell death inducing DFFA like effector a) - Rat Genome Database

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Gene: CIDEA (cell death inducing DFFA like effector a) Homo sapiens
Analyze
Symbol: CIDEA
Name: cell death inducing DFFA like effector a
RGD ID: 1312942
HGNC Page HGNC:1976
Description: Predicted to enable lipid transfer activity; phosphatidic acid binding activity; and protein homodimerization activity. Involved in several processes, including lipid droplet fusion; lipid storage; and negative regulation of tumor necrosis factor production. Located in lipid droplet. Implicated in obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cell death activator CIDE-A; cell death-inducing DFFA-like effector a; CIDE-A; lipid transferase CIDEA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381812,254,361 - 12,277,595 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1812,254,361 - 12,277,595 (+)EnsemblGRCh38hg38GRCh38
GRCh371812,254,360 - 12,277,594 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361812,244,318 - 12,267,594 (+)NCBINCBI36Build 36hg18NCBI36
Build 341812,244,787 - 12,267,592NCBI
Celera1812,134,265 - 12,157,825 (+)NCBICelera
Cytogenetic Map18p11.21NCBI
HuRef1812,208,579 - 12,232,002 (+)NCBIHuRef
CHM1_11812,253,696 - 12,277,015 (+)NCBICHM1_1
T2T-CHM13v2.01812,417,352 - 12,440,590 (+)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
(R)-pantothenic acid  (EXP)
(S)-nicotine  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrophenol  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
alcohol  (ISO)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
biotin  (EXP)
biphenyl-4-amine  (EXP)
bisphenol A  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorohydrocarbon  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium atom  (ISO)
ciguatoxin CTX1B  (ISO)
clofibrate  (ISO)
cocaine  (ISO)
Cuprizon  (ISO)
delphinidin  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
furosemide  (ISO)
gamma-hexachlorocyclohexane  (ISO)
Geniposide  (ISO)
glycidol  (ISO)
graphite  (ISO)
harmine  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
indole-3-methanol  (ISO)
inulin  (ISO)
isoflurane  (ISO)
isotretinoin  (EXP)
ketoconazole  (ISO)
L-methionine  (ISO)
Licarin A  (ISO)
mangiferin  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methylmercury chloride  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nickel sulfate  (ISO)
nicotine  (ISO)
nicotinic acid  (ISO)
nimesulide  (ISO)
orphenadrine  (ISO)
oxazepam  (ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paraquat  (EXP)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenobarbital  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
scopoletin  (ISO)
sodium arsenite  (EXP)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
testosterone  (ISO)
thioacetamide  (ISO)
thyroxine  (EXP)
titanium dioxide  (ISO)
tolcapone  (EXP)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
valproic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA,ISS)
cytosol  (TAS)
lipid droplet  (IDA,IEA,ISO)
mitochondrial envelope  (IEA,ISS)
mitochondrion  (IEA,ISS)
nucleus  (IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. The CIDEA gene V115F polymorphism is associated with obesity in Swedish subjects. Dahlman I, etal., Diabetes. 2005 Oct;54(10):3032-4.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9564035   PMID:10837461   PMID:12477932   PMID:12910269   PMID:14702039   PMID:15919794   PMID:16169070   PMID:17080483   PMID:17895319   PMID:18033804   PMID:18328351   PMID:18480843  
PMID:18509062   PMID:18645223   PMID:19010897   PMID:19843876   PMID:20154362   PMID:20211485   PMID:20810722   PMID:20945533   PMID:21106268   PMID:21315073   PMID:21636835   PMID:21873635  
PMID:23475172   PMID:24057179   PMID:24413203   PMID:25720106   PMID:26118629   PMID:26186194   PMID:27923808   PMID:28514442   PMID:31097771   PMID:32296183   PMID:33961781   PMID:34672413  
PMID:36244648   PMID:36724073  


Genomics

Comparative Map Data
CIDEA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381812,254,361 - 12,277,595 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1812,254,361 - 12,277,595 (+)EnsemblGRCh38hg38GRCh38
GRCh371812,254,360 - 12,277,594 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361812,244,318 - 12,267,594 (+)NCBINCBI36Build 36hg18NCBI36
Build 341812,244,787 - 12,267,592NCBI
Celera1812,134,265 - 12,157,825 (+)NCBICelera
Cytogenetic Map18p11.21NCBI
HuRef1812,208,579 - 12,232,002 (+)NCBIHuRef
CHM1_11812,253,696 - 12,277,015 (+)NCBICHM1_1
T2T-CHM13v2.01812,417,352 - 12,440,590 (+)NCBIT2T-CHM13v2.0
Cidea
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391867,476,634 - 67,500,864 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1867,476,674 - 67,500,855 (+)EnsemblGRCm39 Ensembl
GRCm381867,343,564 - 67,367,794 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1867,343,604 - 67,367,785 (+)EnsemblGRCm38mm10GRCm38
MGSCv371867,503,218 - 67,527,448 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361867,468,974 - 67,493,147 (+)NCBIMGSCv36mm8
Celera1868,616,250 - 68,640,339 (+)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1839.94NCBI
Cidea
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81863,164,817 - 63,190,384 (+)NCBIGRCr8
mRatBN7.21860,894,917 - 60,920,485 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1860,894,874 - 60,920,481 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1862,965,177 - 62,990,782 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01863,663,950 - 63,689,555 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01861,515,712 - 61,541,659 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01863,082,861 - 63,108,450 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1863,098,144 - 63,108,051 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01862,268,025 - 62,292,643 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41863,871,538 - 63,896,975 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11863,919,174 - 63,970,178 (+)NCBI
Celera1859,001,666 - 59,027,159 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
Cidea
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554021,090,518 - 1,096,569 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554021,090,372 - 1,096,621 (-)NCBIChiLan1.0ChiLan1.0
CIDEA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21725,767,841 - 25,793,449 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11811,461,331 - 11,486,053 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0182,051,880 - 2,075,909 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11817,162,126 - 17,185,450 (-)NCBIpanpan1.1PanPan1.1panPan2
CIDEA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1777,685,383 - 77,703,320 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl777,684,863 - 77,702,934 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha777,086,385 - 77,104,317 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0777,743,846 - 77,761,779 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl777,743,898 - 77,761,770 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1777,440,425 - 77,458,243 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0777,487,476 - 77,505,403 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0777,774,353 - 77,792,294 (+)NCBIUU_Cfam_GSD_1.0
Cidea
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049441,002,039 - 1,028,179 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936626230,329 - 246,893 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936626230,372 - 246,893 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CIDEA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl697,253,074 - 97,267,405 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1697,253,074 - 97,268,355 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CIDEA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11870,836,188 - 70,853,917 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605045,858,688 - 45,878,472 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cidea
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477019,559,692 - 19,573,788 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477019,559,735 - 19,573,394 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CIDEA
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 copy number loss See cases [RCV000051027] Chr18:148963..13715860 [GRCh38]
Chr18:148963..13715859 [GRCh37]
Chr18:138963..13705859 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000051154] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3 copy number gain See cases [RCV000052535] Chr18:1919684..15325188 [GRCh38]
Chr18:1919685..15325187 [GRCh37]
Chr18:1909685..15315187 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.31-11.21(chr18:3389362-14082029)x3 copy number gain See cases [RCV000052536] Chr18:3389362..14082029 [GRCh38]
Chr18:3389360..14082028 [GRCh37]
Chr18:3379360..14072028 [NCBI36]
Chr18:18p11.31-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 copy number gain See cases [RCV000052499] Chr18:10001..15380684 [GRCh38]
Chr18:10001..15380683 [GRCh37]
Chr18:1..15370683 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3 copy number gain See cases [RCV000052504] Chr18:53345..20948503 [GRCh38]
Chr18:53345..18528464 [GRCh37]
Chr18:43345..16782462 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 copy number gain See cases [RCV000052513] Chr18:148963..21040153 [GRCh38]
Chr18:148963..18620114 [GRCh37]
Chr18:138963..16874112 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 copy number loss See cases [RCV000053457] Chr18:112259..14122522 [GRCh38]
Chr18:112259..14122521 [GRCh37]
Chr18:102259..14112521 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 copy number loss See cases [RCV000053458] Chr18:131700..15121055 [GRCh38]
Chr18:131700..15121054 [GRCh37]
Chr18:121700..15111054 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 copy number loss See cases [RCV000053461] Chr18:131700..14226905 [GRCh38]
Chr18:131700..14226904 [GRCh37]
Chr18:121700..14216904 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 copy number loss See cases [RCV000053784] Chr18:148963..13530126 [GRCh38]
Chr18:148963..13530125 [GRCh37]
Chr18:138963..13520125 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 copy number loss See cases [RCV000053787] Chr18:148963..13068104 [GRCh38]
Chr18:148963..13068103 [GRCh37]
Chr18:138963..13058103 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.21(chr18:12159446-12739785) copy number gain See cases [RCV000133800] Chr18:12159446..12739785 [GRCh38]
Chr18:12159445..12739784 [GRCh37]
Chr18:12149445..12729784 [NCBI36]
Chr18:18p11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 copy number gain See cases [RCV000135515] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3 copy number gain See cases [RCV000136610] Chr18:10077657..14081888 [GRCh38]
Chr18:10077654..14081887 [GRCh37]
Chr18:10067654..14071887 [NCBI36]
Chr18:18p11.22-11.21		 pathogenic
GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1 copy number loss See cases [RCV000137503] Chr18:7290175..13049470 [GRCh38]
Chr18:7290173..13049469 [GRCh37]
Chr18:7280173..13039469 [NCBI36]
Chr18:18p11.23-11.21		 likely pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 copy number gain See cases [RCV000137456] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 copy number loss See cases [RCV000137457] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 copy number loss See cases [RCV000138101] Chr18:133157..14089410 [GRCh38]
Chr18:133157..14089409 [GRCh37]
Chr18:123157..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) copy number gain See cases [RCV000140442] Chr18:136226..15175006 [GRCh38]
Chr18:136226..15175005 [GRCh37]
Chr18:126226..15165005 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 copy number gain See cases [RCV000141427] Chr18:14316..14206225 [GRCh38]
Chr18:14316..14206224 [GRCh37]
Chr18:4316..14196224 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 copy number loss See cases [RCV000141086] Chr18:118760..15024003 [GRCh38]
Chr18:118760..15024002 [GRCh37]
Chr18:108760..15014002 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 copy number loss See cases [RCV000141627] Chr18:48782..14978076 [GRCh38]
Chr18:48782..14978075 [GRCh37]
Chr18:38782..14968075 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 copy number gain See cases [RCV000143075] Chr18:8779843..24685379 [GRCh38]
Chr18:8779841..22265343 [GRCh37]
Chr18:8769841..20519341 [NCBI36]
Chr18:18p11.22-q11.2		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 copy number gain See cases [RCV000143434] Chr18:136226..15198991 [GRCh38]
Chr18:136226..15198990 [GRCh37]
Chr18:126226..15188990 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 copy number gain See cases [RCV000143194] Chr18:118760..12642431 [GRCh38]
Chr18:118760..12642430 [GRCh37]
Chr18:108760..12632430 [NCBI36]
Chr18:18p11.32-11.21		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 copy number gain See cases [RCV000143477] Chr18:136226..14337134 [GRCh38]
Chr18:136226..14337133 [GRCh37]
Chr18:126226..14327133 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000148129] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 copy number loss See cases [RCV000239938] Chr18:163323..14103971 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 copy number gain See cases [RCV000240029] Chr18:163323..15102598 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 copy number loss See cases [RCV000240281] Chr18:14316..15328499 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 copy number loss See cases [RCV000599143] Chr18:13034..15375878 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3 copy number gain See cases [RCV000447320] Chr18:12254327..23262749 [GRCh37]
Chr18:18p11.21-q11.2		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:4465872-15198990)x3 copy number gain See cases [RCV000447359] Chr18:4465872..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain See cases [RCV000445796] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 copy number loss See cases [RCV000449008] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 copy number gain See cases [RCV000447836] Chr18:136226..18534784 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2		 pathogenic
GRCh37/hg19 18p11.22-11.21(chr18:9671667-14854484)x1 copy number loss See cases [RCV000510514] Chr18:9671667..14854484 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 copy number gain See cases [RCV000511520] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 copy number loss See cases [RCV000511826] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 copy number gain See cases [RCV000511949] Chr18:136226..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 copy number loss See cases [RCV000515578] Chr18:13034..15026309 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 copy number loss See cases [RCV000512162] Chr18:1..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain not provided [RCV000684054] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1 copy number loss not provided [RCV000684048] Chr18:136226..12767079 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3 copy number gain not provided [RCV000684051] Chr18:958974..15181666 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain not provided [RCV000684052] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 copy number loss not provided [RCV000684053] Chr18:136226..15198989 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:124335-14139006)x1 copy number loss not provided [RCV000752249] Chr18:124335..14139006 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 copy number loss not provided [RCV001006953] Chr18:136226..15175005 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 copy number loss See cases [RCV001007421] Chr18:13034..15330525 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001279.4(CIDEA):c.277T>G (p.Leu93Val) single nucleotide variant not provided [RCV000906429] Chr18:12264400 [GRCh38]
Chr18:12264399 [GRCh37]
Chr18:18p11.21		 benign
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 copy number loss not provided [RCV001006952] Chr18:136304..15143714 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001279.4(CIDEA):c.542C>A (p.Ala181Asp) single nucleotide variant not specified [RCV004300217] Chr18:12277152 [GRCh38]
Chr18:12277151 [GRCh37]
Chr18:18p11.21		 uncertain significance
NC_000018.9:g.(?_9102742)_(12725530_?)dup duplication Dystonic disorder [RCV003105519] Chr18:9102742..12725530 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
GRCh37/hg19 18p11.21(chr18:11290617-15106305)x3 copy number gain not provided [RCV002472558] Chr18:11290617..15106305 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1 copy number loss not provided [RCV001258695] Chr18:7598173..15422644 [GRCh37]
Chr18:18p11.23-11.1		 pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
Single allele deletion Deletion of short arm of chromosome 18 [RCV001391667] Chr18:2656075..13885536 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1 copy number loss See cases [RCV002285056] Chr18:136226..14632436 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1 copy number loss Deletion of short arm of chromosome 18 [RCV001801193] Chr18:10501..15410398 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326) copy number gain not specified [RCV002052611] Chr18:136226..14384326 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) copy number loss not specified [RCV002052612] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number gain not specified [RCV002052613] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number loss not specified [RCV002052614] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NC_000018.9:g.(?_10454979)_(12725530_?)dup duplication not provided [RCV001984500] Chr18:10454979..12725530 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146) copy number loss not specified [RCV002052610] Chr18:136226..13655146 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1		 pathogenic
NC_000018.9:g.(?_10454979)_(12725530_?)del deletion not provided [RCV003119975] Chr18:10454979..12725530 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3 copy number gain not provided [RCV002276058] Chr18:47390..14854037 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.21(chr18:12238850-12454719)x3 copy number gain not provided [RCV002475011] Chr18:12238850..12454719 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.21(chr18:12218695-12570235)x3 copy number gain not provided [RCV002475784] Chr18:12218695..12570235 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.148G>A (p.Val50Met) single nucleotide variant not specified [RCV004177189] Chr18:12262934 [GRCh38]
Chr18:12262933 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.21(chr18:12249702-12570235)x3 copy number gain not provided [RCV002475720] Chr18:12249702..12570235 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.290C>T (p.Thr97Met) single nucleotide variant not specified [RCV004189471] Chr18:12264413 [GRCh38]
Chr18:12264412 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.104G>A (p.Arg35His) single nucleotide variant not specified [RCV004191860] Chr18:12262890 [GRCh38]
Chr18:12262889 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.211G>A (p.Gly71Arg) single nucleotide variant not specified [RCV004127530] Chr18:12264334 [GRCh38]
Chr18:12264333 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.656G>C (p.Gly219Ala) single nucleotide variant not specified [RCV004136539] Chr18:12277266 [GRCh38]
Chr18:12277265 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.460A>T (p.Met154Leu) single nucleotide variant not specified [RCV004205084] Chr18:12274222 [GRCh38]
Chr18:12274221 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.122A>G (p.Asn41Ser) single nucleotide variant not specified [RCV004255126] Chr18:12262908 [GRCh38]
Chr18:12262907 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.617C>T (p.Pro206Leu) single nucleotide variant not specified [RCV004252459] Chr18:12277227 [GRCh38]
Chr18:12277226 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035) copy number loss Deletion of short arm of chromosome 18 [RCV003159575] Chr18:1..15400035 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
NM_001279.4(CIDEA):c.293A>G (p.His98Arg) single nucleotide variant not specified [RCV004252053] Chr18:12264416 [GRCh38]
Chr18:12264415 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1 copy number loss Deletion of short arm of chromosome 18 [RCV003327630] Chr18:158286..14124574 [GRCh38]
Chr18:18p11.32-11.21		 pathogenic
NM_001279.4(CIDEA):c.449C>A (p.Thr150Asn) single nucleotide variant not specified [RCV004334674] Chr18:12274211 [GRCh38]
Chr18:12274210 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4 copy number gain not provided [RCV003485366] Chr18:136227..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1 copy number loss not provided [RCV003483328] Chr18:136227..14585159 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.21(chr18:12244578-12507815) copy number gain Autism spectrum disorder [RCV003883403] Chr18:12244578..12507815 [GRCh38]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1 copy number loss not specified [RCV003987287] Chr18:136226..15161581 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3 copy number gain not specified [RCV003987271] Chr18:2922899..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3 copy number gain not specified [RCV003986102] Chr18:136227..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.21(chr18:11200889-12792186)x3 copy number gain not specified [RCV003987267] Chr18:11200889..12792186 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3 copy number gain not specified [RCV003987269] Chr18:136226..14455323 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3 copy number gain not specified [RCV003987266] Chr18:136226..14148354 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1 copy number loss not specified [RCV003987292] Chr18:136226..14352648 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001279.4(CIDEA):c.524G>A (p.Arg175Gln) single nucleotide variant not specified [RCV004441836] Chr18:12277134 [GRCh38]
Chr18:12277133 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.262G>A (p.Glu88Lys) single nucleotide variant not specified [RCV004441833] Chr18:12264385 [GRCh38]
Chr18:12264384 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.589C>T (p.Arg197Trp) single nucleotide variant not specified [RCV004441837] Chr18:12277199 [GRCh38]
Chr18:12277198 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.394G>A (p.Asp132Asn) single nucleotide variant not specified [RCV004441834] Chr18:12274156 [GRCh38]
Chr18:12274155 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_001279.4(CIDEA):c.462G>A (p.Met154Ile) single nucleotide variant not specified [RCV004441835] Chr18:12274224 [GRCh38]
Chr18:12274223 [GRCh37]
Chr18:18p11.21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:913
Count of miRNA genes:598
Interacting mature miRNAs:664
Transcripts:ENST00000320477, ENST00000520620, ENST00000521296, ENST00000522713
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.

Markers in Region
D18S1085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,256,156 - 12,256,313UniSTSGRCh37
Build 361812,246,156 - 12,246,313RGDNCBI36
Celera1812,136,103 - 12,136,260RGD
Cytogenetic Map18p11.21UniSTS
HuRef1812,210,433 - 12,210,590UniSTS


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 1 2
Medium 40 106 10 9 7 2 1456 27 169 3 60 5 7 1149 489
Low 547 673 287 167 137 43 1461 500 1666 30 247 209 129 1 53 1161 1 1
Below cutoff 1471 1727 958 206 725 178 1112 1472 1468 96 803 856 34 1026

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000320477   ⟹   ENSP00000320209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,254,361 - 12,277,595 (+)Ensembl
RefSeq Acc Id: ENST00000520620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,254,725 - 12,277,481 (+)Ensembl
RefSeq Acc Id: ENST00000521296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,254,702 - 12,277,595 (+)Ensembl
RefSeq Acc Id: ENST00000522713   ⟹   ENSP00000429238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,254,361 - 12,277,593 (+)Ensembl
RefSeq Acc Id: NM_001279   ⟹   NP_001270
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,254,361 - 12,277,595 (+)NCBI
GRCh371812,254,318 - 12,277,594 (+)ENTREZGENE
Build 361812,244,318 - 12,267,594 (+)NCBI Archive
HuRef1812,208,579 - 12,232,002 (+)ENTREZGENE
CHM1_11812,253,696 - 12,277,015 (+)NCBI
T2T-CHM13v2.01812,417,352 - 12,440,590 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318383   ⟹   NP_001305312
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,254,361 - 12,277,595 (+)NCBI
CHM1_11812,253,738 - 12,277,015 (+)NCBI
T2T-CHM13v2.01812,417,352 - 12,440,590 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134607
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,254,361 - 12,277,595 (+)NCBI
CHM1_11812,253,738 - 12,277,015 (+)NCBI
T2T-CHM13v2.01812,417,352 - 12,440,590 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001270   ⟸   NM_001279
- Peptide Label: isoform 1
- UniProtKB: B0YIY7 (UniProtKB/Swiss-Prot),   Q6UPR7 (UniProtKB/Swiss-Prot),   O60543 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305312   ⟸   NM_001318383
- Peptide Label: isoform 2
- UniProtKB: Q8N5P9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000320209   ⟸   ENST00000320477
RefSeq Acc Id: ENSP00000429238   ⟸   ENST00000522713
Protein Domains
CIDE-N

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60543-F1-model_v2 AlphaFold O60543 1-219 view protein structure

Promoters
RGD ID:7236947
Promoter ID:EPDNEW_H24220
Type:initiation region
Name:CIDEA_1
Description:cell death-inducing DFFA-like effector a
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24221  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,254,361 - 12,254,421EPDNEW
RGD ID:7236949
Promoter ID:EPDNEW_H24221
Type:initiation region
Name:CIDEA_2
Description:cell death-inducing DFFA-like effector a
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24220  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,254,711 - 12,254,771EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1976 AgrOrtholog
COSMIC CIDEA COSMIC
Ensembl Genes ENSG00000176194 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320477 ENTREZGENE
  ENST00000320477.10 UniProtKB/Swiss-Prot
  ENST00000522713 ENTREZGENE
  ENST00000522713.5 UniProtKB/TrEMBL
Gene3D-CATH 3.10.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000176194 GTEx
HGNC ID HGNC:1976 ENTREZGENE
Human Proteome Map CIDEA Human Proteome Map
InterPro CIDE-A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CIDE-N_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1149 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1149 ENTREZGENE
OMIM 604440 OMIM
PANTHER CELL DEATH ACTIVATOR CIDE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12306:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CIDE-N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26514 PharmGKB
PROSITE CIDE_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP CAD & PB1 domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B0YIY7 ENTREZGENE
  B3KVA2_HUMAN UniProtKB/TrEMBL
  CIDEA_HUMAN UniProtKB/Swiss-Prot
  E5RJ03_HUMAN UniProtKB/TrEMBL
  O60543 ENTREZGENE
  Q6UPR7 ENTREZGENE
  Q8N5P9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B0YIY7 UniProtKB/Swiss-Prot
  Q6UPR7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-10-16 CIDEA  cell death inducing DFFA like effector a    cell death-inducing DFFA-like effector a  Symbol and/or name change 5135510 APPROVED