DIDO1 (death inducer-obliterator 1) - Rat Genome Database

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Gene: DIDO1 (death inducer-obliterator 1) Homo sapiens
Analyze
Symbol: DIDO1
Name: death inducer-obliterator 1
RGD ID: 1322490
HGNC Page HGNC:2680
Description: Enables RNA binding activity. Predicted to be involved in DNA-templated transcription. Predicted to act upstream of or within apoptotic signaling pathway. Predicted to be located in cytoplasm and spindle. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BYE1; C20orf158; chromosome 20 open reading frame 158; DATF-1; DATF1; death associated transcription factor 1; death-associated transcription factor 1; death-inducer obliterator 1; DIDO2; DIDO3; DIO-1; DIO1; dJ885L7.8; DKFZp434P1115; FLJ11265; hDido1; KIAA0333; MGC16140
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
GRCh382062,877,743 - 62,937,904 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2062,877,738 - 62,937,952 (-)EnsemblGRCh38hg38GRCh38
GRCh372061,509,095 - 61,569,256 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362060,979,535 - 61,039,719 (-)NCBINCBI36Build 36hg18NCBI36
Build 342061,006,799 - 61,016,204NCBI
Celera2058,185,696 - 58,245,931 (-)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2058,226,477 - 58,286,320 (-)NCBIHuRef
CHM1_12061,410,099 - 61,470,313 (-)NCBICHM1_1
T2T-CHM13v2.02064,677,856 - 64,738,018 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (EXP,ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
Benzo[ghi]perylene  (ISO)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
caffeine  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chrysene  (ISO)
ciguatoxin CTX1B  (ISO)
clobetasol  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diazinon  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzyme inhibitor  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
inulin  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
ochratoxin A  (EXP)
paracetamol  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
PhIP  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
propiconazole  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
tetraphene  (ISO)
titanium dioxide  (EXP,ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytoskeleton  (IEA)
nucleus  (IBA,IEA)
spindle  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:9205841   PMID:10393935   PMID:11780052   PMID:12070015   PMID:12477932   PMID:12624717   PMID:14702039   PMID:15146197   PMID:15203218   PMID:15302935   PMID:15489334  
PMID:16127461   PMID:16189514   PMID:16344560   PMID:16964243   PMID:17081983   PMID:17299043   PMID:18298900   PMID:19236754   PMID:19490893   PMID:19640993   PMID:19851296   PMID:20198315  
PMID:20379614   PMID:20453000   PMID:20800603   PMID:20850016   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22469980   PMID:22586326   PMID:22681889   PMID:22711543   PMID:22939629  
PMID:23602568   PMID:24163370   PMID:24332808   PMID:24457600   PMID:24550385   PMID:24981860   PMID:26167880   PMID:26186194   PMID:26201719   PMID:26344197   PMID:26354767   PMID:26496610  
PMID:26687479   PMID:26949251   PMID:27114453   PMID:27248496   PMID:27282563   PMID:27705803   PMID:28514442   PMID:28515276   PMID:28695742   PMID:28846114   PMID:28919441   PMID:28986522  
PMID:29117863   PMID:29507755   PMID:29513927   PMID:29568061   PMID:30415952   PMID:30463901   PMID:30585729   PMID:30761474   PMID:30804502   PMID:30931476   PMID:31091453   PMID:31180492  
PMID:31527615   PMID:31586073   PMID:32416067   PMID:32433965   PMID:32509391   PMID:32707033   PMID:32786267   PMID:33111431   PMID:33397691   PMID:33545068   PMID:33658012   PMID:33729478  
PMID:33838681   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34189442   PMID:34316702   PMID:34349018   PMID:34384442   PMID:34581668   PMID:35013218   PMID:35140242   PMID:35205757  
PMID:35271311   PMID:35439318   PMID:35545047   PMID:35563538   PMID:35785414   PMID:35831314   PMID:35906200   PMID:35944360   PMID:36089195   PMID:36114006   PMID:36168628   PMID:36215168  
PMID:36244648   PMID:36373674   PMID:36424410   PMID:36526897   PMID:36629882   PMID:37827155   PMID:38280479  


Genomics

Comparative Map Data
DIDO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382062,877,743 - 62,937,904 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2062,877,738 - 62,937,952 (-)EnsemblGRCh38hg38GRCh38
GRCh372061,509,095 - 61,569,256 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362060,979,535 - 61,039,719 (-)NCBINCBI36Build 36hg18NCBI36
Build 342061,006,799 - 61,016,204NCBI
Celera2058,185,696 - 58,245,931 (-)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2058,226,477 - 58,286,320 (-)NCBIHuRef
CHM1_12061,410,099 - 61,470,313 (-)NCBICHM1_1
T2T-CHM13v2.02064,677,856 - 64,738,018 (-)NCBIT2T-CHM13v2.0
Dido1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392180,299,757 - 180,351,886 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2180,299,757 - 180,351,792 (-)EnsemblGRCm39 Ensembl
GRCm382180,657,963 - 180,710,068 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2180,657,964 - 180,709,999 (-)EnsemblGRCm38mm10GRCm38
MGSCv372180,392,669 - 180,444,704 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362180,587,372 - 180,639,407 (-)NCBIMGSCv36mm8
Celera2184,743,521 - 184,795,531 (-)NCBICelera
Cytogenetic Map2H4NCBI
Dido1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83188,150,100 - 188,203,445 (-)NCBIGRCr8
mRatBN7.23167,772,535 - 167,825,894 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3167,772,770 - 167,817,218 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.03176,162,886 - 176,216,868 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3176,162,886 - 176,197,753 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03179,862,994 - 179,915,916 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43169,773,804 - 169,797,391 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13169,650,732 - 169,691,373 (-)NCBI
Celera3164,756,972 - 164,810,015 (+)NCBICelera
Cytogenetic Map3q43NCBI
Dido1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555281,162,836 - 1,207,596 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555281,153,181 - 1,207,346 (+)NCBIChiLan1.0ChiLan1.0
DIDO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22168,664,981 - 68,725,218 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12068,658,100 - 68,718,337 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02059,264,759 - 59,325,092 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12060,556,923 - 60,617,265 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2060,556,923 - 60,617,265 (-)Ensemblpanpan1.1panPan2
DIDO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12446,691,117 - 46,735,117 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2446,692,605 - 46,724,505 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2445,875,276 - 45,924,685 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02447,563,695 - 47,612,949 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2447,565,190 - 47,612,947 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12446,661,345 - 46,710,760 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02446,784,621 - 46,833,858 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02447,540,618 - 47,590,068 (-)NCBIUU_Cfam_GSD_1.0
Dido1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640194,917,318 - 194,968,873 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651410,370,959 - 10,403,889 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651410,370,961 - 10,422,484 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DIDO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1762,125,122 - 62,174,071 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11762,126,026 - 62,174,095 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DIDO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121,285,027 - 1,345,726 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21,285,051 - 1,345,846 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605049,114,402 - 49,175,884 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dido1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474128,646,938 - 28,700,683 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DIDO1
80 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 20q13.33(chr20:61421505-62070966)x1 copy number loss not specified [RCV003986131] Chr20:61421505..62070966 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1 copy number loss See cases [RCV000052768] Chr20:62455231..63839491 [GRCh38]
Chr20:61030287..62470844 [GRCh37]
Chr20:60463682..61941288 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1 copy number loss See cases [RCV000052769] Chr20:62545370..64241486 [GRCh38]
Chr20:61142577..62872839 [GRCh37]
Chr20:60553022..62343283 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62561794-63331723)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052770]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052770]|See cases [RCV000052770] Chr20:62561794..63331723 [GRCh38]
Chr20:61211869..61963075 [GRCh37]
Chr20:60569446..61433519 [NCBI36]
Chr20:20q13.33		 pathogenic
NM_033081.2(DIDO1):c.4008C>T (p.Pro1336=) single nucleotide variant Malignant melanoma [RCV000063792] Chr20:62881948 [GRCh38]
Chr20:61513300 [GRCh37]
Chr20:60983745 [NCBI36]
Chr20:20q13.33		 not provided
NM_033081.2(DIDO1):c.3989C>T (p.Pro1330Leu) single nucleotide variant Malignant melanoma [RCV000063793] Chr20:62881967 [GRCh38]
Chr20:61513319 [GRCh37]
Chr20:60983764 [NCBI36]
Chr20:20q13.33		 not provided
NM_033081.2(DIDO1):c.3988C>T (p.Pro1330Ser) single nucleotide variant Malignant melanoma [RCV000063794] Chr20:62881968 [GRCh38]
Chr20:61513320 [GRCh37]
Chr20:60983765 [NCBI36]
Chr20:20q13.33		 not provided
NM_022105.4(DIDO1):c.1625C>A (p.Ser542Tyr) single nucleotide variant Malignant melanoma [RCV000072751] Chr20:62905850 [GRCh38]
Chr20:61537202 [GRCh37]
Chr20:61007647 [NCBI36]
Chr20:20q13.33		 not provided
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 copy number gain See cases [RCV000135805] Chr20:59041966..64277321 [GRCh38]
Chr20:57617021..62908674 [GRCh37]
Chr20:57050416..62379118 [NCBI36]
Chr20:20q13.32-13.33		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1 copy number loss See cases [RCV000133842] Chr20:62561794..64277321 [GRCh38]
Chr20:61211869..62908674 [GRCh37]
Chr20:60569446..62379118 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 copy number gain See cases [RCV000139100] Chr20:61326549..64277326 [GRCh38]
Chr20:59901605..62908679 [GRCh37]
Chr20:59335000..62379123 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1 copy number loss See cases [RCV000141676] Chr20:62663307..64284202 [GRCh38]
Chr20:61294659..62915555 [GRCh37]
Chr20:60765104..62385999 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1 copy number loss See cases [RCV000141744] Chr20:62582073..64284202 [GRCh38]
Chr20:61179280..62915555 [GRCh37]
Chr20:60589725..62385999 [NCBI36]
Chr20:20q13.33		 pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:60882468-62045494)x1 copy number loss Breast ductal adenocarcinoma [RCV000207130] Chr20:60882468..62045494 [GRCh37]
Chr20:20q13.33		 uncertain significance
chr20:60885242-61929348 complex variant complex Breast ductal adenocarcinoma [RCV000207152] Chr20:60885242..61929348 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61429900-62293991)x1 copy number loss See cases [RCV000240573] Chr20:61429900..62293991 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3 copy number gain See cases [RCV000446009] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61422360-61512691)x3 copy number gain not provided [RCV000741356] Chr20:61422360..61512691 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:61441797-61512691)x3 copy number gain not provided [RCV000741357] Chr20:61441797..61512691 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:61441901-61512691)x3 copy number gain not provided [RCV000741359] Chr20:61441901..61512691 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:61485123-61512691)x3 copy number gain not provided [RCV000741360] Chr20:61485123..61512691 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3 copy number gain not provided [RCV000741328] Chr20:60053234..62961294 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3 copy number gain not provided [RCV000741329] Chr20:60063645..62961294 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1 copy number loss not provided [RCV000488148] Chr20:61337529..62904501 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 copy number gain See cases [RCV000511980] Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61530581-61911114)x1 copy number loss See cases [RCV000512342] Chr20:61530581..61911114 [GRCh37]
Chr20:20q13.33		 likely benign
GRCh37/hg19 20q13.33(chr20:61022397-61738592)x1 copy number loss not provided [RCV000684122] Chr20:61022397..61738592 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) copy number gain not provided [RCV000767669] Chr20:54143747..62194881 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61548147-61619208)x1 copy number loss not provided [RCV000849776] Chr20:61548147..61619208 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:60946209-61975606)x3 copy number gain not provided [RCV000847979] Chr20:60946209..61975606 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61327990-61529781)x3 copy number gain not provided [RCV000848409] Chr20:61327990..61529781 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.3120C>T (p.Ser1040=) single nucleotide variant not provided [RCV000914806] Chr20:62892944 [GRCh38]
Chr20:61524296 [GRCh37]
Chr20:20q13.33		 benign
NM_001193369.2(DIDO1):c.6239A>G (p.Asn2080Ser) single nucleotide variant not provided [RCV000914805] Chr20:62879717 [GRCh38]
Chr20:61511069 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.4847C>T (p.Ser1616Phe) single nucleotide variant not provided [RCV000881682] Chr20:62881109 [GRCh38]
Chr20:61512461 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.1611C>T (p.Ser537=) single nucleotide variant not provided [RCV000948070] Chr20:62896974 [GRCh38]
Chr20:61528326 [GRCh37]
Chr20:20q13.33		 benign
NM_001193369.2(DIDO1):c.2631T>C (p.Ser877=) single nucleotide variant not provided [RCV000970372] Chr20:62894136 [GRCh38]
Chr20:61525488 [GRCh37]
Chr20:20q13.33		 benign
NM_001193369.2(DIDO1):c.5116C>G (p.Leu1706Val) single nucleotide variant not provided [RCV000948068] Chr20:62880840 [GRCh38]
Chr20:61512192 [GRCh37]
Chr20:20q13.33		 benign
NM_001193369.2(DIDO1):c.5150G>A (p.Gly1717Asp) single nucleotide variant not provided [RCV000965482] Chr20:62880806 [GRCh38]
Chr20:61512158 [GRCh37]
Chr20:20q13.33		 benign
NM_001193369.2(DIDO1):c.4329C>T (p.Asp1443=) single nucleotide variant not provided [RCV000948069] Chr20:62881627 [GRCh38]
Chr20:61512979 [GRCh37]
Chr20:20q13.33		 benign
NM_001193369.2(DIDO1):c.801C>T (p.Asn267=) single nucleotide variant not provided [RCV000971977] Chr20:62910812 [GRCh38]
Chr20:61542164 [GRCh37]
Chr20:20q13.33		 benign
NM_001193369.2(DIDO1):c.408A>G (p.Pro136=) single nucleotide variant not provided [RCV000969744] Chr20:62911205 [GRCh38]
Chr20:61542557 [GRCh37]
Chr20:20q13.33		 benign
NM_001193369.2(DIDO1):c.4888G>A (p.Glu1630Lys) single nucleotide variant not provided [RCV000908686] Chr20:62881068 [GRCh38]
Chr20:61512420 [GRCh37]
Chr20:20q13.33		 benign
NM_001193369.2(DIDO1):c.4493A>C (p.Glu1498Ala) single nucleotide variant not provided [RCV000900280] Chr20:62881463 [GRCh38]
Chr20:61512815 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.4015A>T (p.Thr1339Ser) single nucleotide variant not provided [RCV000958105] Chr20:62881941 [GRCh38]
Chr20:61513293 [GRCh37]
Chr20:20q13.33		 benign
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1 copy number loss not provided [RCV001007103] Chr20:61152321..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 copy number gain not provided [RCV001007097] Chr20:55743522..62032989 [GRCh37]
Chr20:20q13.31-13.33		 pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 copy number gain not provided [RCV001007098] Chr20:56788101..62762405 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
NC_000020.10:g.(?_60831241)_(62664346_?)dup duplication Developmental and epileptic encephalopathy, 33 [RCV001295457]|Early infantile epileptic encephalopathy with suppression bursts [RCV001316934] Chr20:60831241..62664346 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61507440-62318983)x3 copy number gain not provided [RCV001258919] Chr20:61507440..62318983 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:61510452-62315381) copy number loss Epileptic spasm [RCV001352668] Chr20:61510452..62315381 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 copy number gain not provided [RCV001537917] Chr20:51799648..62916626 [GRCh37]
Chr20:20q13.2-13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61041481-62680992) copy number loss Seizures, benign familial neonatal, 1 [RCV001786555] Chr20:61041481..62680992 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61038552-62907579) copy number loss Seizures, benign familial neonatal, 1 [RCV001786557] Chr20:61038552..62907579 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.33(chr20:61273854-62907579) copy number loss Seizures, benign familial neonatal, 1 [RCV001786556] Chr20:61273854..62907579 [GRCh37]
Chr20:20q13.33		 likely pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) copy number gain not specified [RCV002052713] Chr20:56835739..62915555 [GRCh37]
Chr20:20q13.32-13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:61003263-62915555) copy number loss not specified [RCV002052717] Chr20:61003263..62915555 [GRCh37]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555) copy number gain not specified [RCV002052714] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
NC_000020.10:g.(?_61448417)_(62124660_?)del deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV001916149]|Developmental and epileptic encephalopathy, 33 [RCV003107883] Chr20:61448417..62124660 [GRCh37]
Chr20:20q13.33		 uncertain significance
Single allele duplication not specified [RCV002286379] Chr20:61800345..63644611 [GRCh38]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.3973A>C (p.Lys1325Gln) single nucleotide variant not specified [RCV004117336] Chr20:62881983 [GRCh38]
Chr20:61513335 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.3554C>T (p.Pro1185Leu) single nucleotide variant not specified [RCV004134977] Chr20:62882402 [GRCh38]
Chr20:61513754 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3 copy number gain not provided [RCV002473575] Chr20:60621074..62915555 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.5491C>T (p.Leu1831Phe) single nucleotide variant not specified [RCV004191420] Chr20:62880465 [GRCh38]
Chr20:61511817 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2359A>T (p.Asn787Tyr) single nucleotide variant not specified [RCV004084077] Chr20:62894887 [GRCh38]
Chr20:61526239 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.3691G>A (p.Val1231Ile) single nucleotide variant not specified [RCV004096492] Chr20:62882265 [GRCh38]
Chr20:61513617 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2337G>A (p.Met779Ile) single nucleotide variant not specified [RCV004083328] Chr20:62894909 [GRCh38]
Chr20:61526261 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2287G>A (p.Val763Ile) single nucleotide variant not specified [RCV004244239] Chr20:62895093 [GRCh38]
Chr20:61526445 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.3400A>C (p.Ile1134Leu) single nucleotide variant not specified [RCV004170422] Chr20:62891101 [GRCh38]
Chr20:61522453 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.995C>T (p.Thr332Met) single nucleotide variant not specified [RCV004163877] Chr20:62909865 [GRCh38]
Chr20:61541217 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2627C>T (p.Ala876Val) single nucleotide variant not specified [RCV004242034] Chr20:62894140 [GRCh38]
Chr20:61525492 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.6500A>T (p.Lys2167Met) single nucleotide variant not specified [RCV004099741] Chr20:62879456 [GRCh38]
Chr20:61510808 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.5669G>C (p.Gly1890Ala) single nucleotide variant not specified [RCV004106418] Chr20:62880287 [GRCh38]
Chr20:61511639 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.3292G>A (p.Ala1098Thr) single nucleotide variant not specified [RCV004085011] Chr20:62892040 [GRCh38]
Chr20:61523392 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1210C>T (p.His404Tyr) single nucleotide variant not specified [RCV004118333] Chr20:62907311 [GRCh38]
Chr20:61538663 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.4723G>C (p.Gly1575Arg) single nucleotide variant not specified [RCV004195039] Chr20:62881233 [GRCh38]
Chr20:61512585 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.5363C>T (p.Ser1788Phe) single nucleotide variant not specified [RCV004106417] Chr20:62880593 [GRCh38]
Chr20:61511945 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.284A>C (p.Asp95Ala) single nucleotide variant not specified [RCV004232233] Chr20:62911329 [GRCh38]
Chr20:61542681 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1561G>A (p.Ala521Thr) single nucleotide variant not specified [RCV004092943] Chr20:62905914 [GRCh38]
Chr20:61537266 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.575G>A (p.Arg192His) single nucleotide variant not specified [RCV004240809] Chr20:62911038 [GRCh38]
Chr20:61542390 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.4697T>A (p.Leu1566Gln) single nucleotide variant not specified [RCV004114962] Chr20:62881259 [GRCh38]
Chr20:61512611 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1699G>A (p.Val567Met) single nucleotide variant not specified [RCV004075665] Chr20:62896886 [GRCh38]
Chr20:61528238 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2911G>T (p.Ala971Ser) single nucleotide variant not specified [RCV004204553] Chr20:62893856 [GRCh38]
Chr20:61525208 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2669C>G (p.Ser890Cys) single nucleotide variant not specified [RCV004245705] Chr20:62894098 [GRCh38]
Chr20:61525450 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.725C>T (p.Ala242Val) single nucleotide variant not specified [RCV004141071] Chr20:62910888 [GRCh38]
Chr20:61542240 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.1862C>T (p.Ala621Val) single nucleotide variant not specified [RCV004237775] Chr20:62896723 [GRCh38]
Chr20:61528075 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.494A>G (p.Gln165Arg) single nucleotide variant not specified [RCV004092214] Chr20:62911119 [GRCh38]
Chr20:61542471 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1460C>T (p.Ala487Val) single nucleotide variant not specified [RCV004173776] Chr20:62906015 [GRCh38]
Chr20:61537367 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2059A>G (p.Asn687Asp) single nucleotide variant not specified [RCV004097728] Chr20:62896388 [GRCh38]
Chr20:61527740 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2228G>A (p.Arg743His) single nucleotide variant not specified [RCV004157313] Chr20:62895152 [GRCh38]
Chr20:61526504 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.238A>G (p.Ile80Val) single nucleotide variant not specified [RCV004108282] Chr20:62911375 [GRCh38]
Chr20:61542727 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.696T>A (p.Asp232Glu) single nucleotide variant not specified [RCV004120547] Chr20:62910917 [GRCh38]
Chr20:61542269 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1981G>A (p.Ala661Thr) single nucleotide variant not specified [RCV004126930] Chr20:62896604 [GRCh38]
Chr20:61527956 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1884C>G (p.Phe628Leu) single nucleotide variant not specified [RCV004085204] Chr20:62896701 [GRCh38]
Chr20:61528053 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.986A>G (p.His329Arg) single nucleotide variant not specified [RCV004223385] Chr20:62909874 [GRCh38]
Chr20:61541226 [GRCh37]
Chr20:20q13.33		 uncertain significance
NC_000020.10:g.(?_61471874)_(62078210_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003113817] Chr20:61471874..62078210 [GRCh37]
Chr20:20q13.33		 pathogenic
NC_000020.10:g.(?_60831241)_(62680869_?)dup duplication Developmental and epileptic encephalopathy, 33 [RCV003107566]|Early infantile epileptic encephalopathy with suppression bursts [RCV003122564] Chr20:60831241..62680869 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.515G>A (p.Arg172Gln) single nucleotide variant not specified [RCV004266778] Chr20:62911098 [GRCh38]
Chr20:61542450 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2494G>A (p.Val832Ile) single nucleotide variant not specified [RCV004249252] Chr20:62894491 [GRCh38]
Chr20:61525843 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.151C>T (p.Pro51Ser) single nucleotide variant not specified [RCV004295555] Chr20:62911462 [GRCh38]
Chr20:61542814 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.3369C>A (p.His1123Gln) single nucleotide variant not specified [RCV004318726] Chr20:62891132 [GRCh38]
Chr20:61522484 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2935G>A (p.Val979Met) single nucleotide variant not specified [RCV004282325] Chr20:62893832 [GRCh38]
Chr20:61525184 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.566G>A (p.Arg189Gln) single nucleotide variant not specified [RCV004287737] Chr20:62911047 [GRCh38]
Chr20:61542399 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2984G>A (p.Arg995Lys) single nucleotide variant not specified [RCV004281130] Chr20:62893783 [GRCh38]
Chr20:61525135 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.2084C>G (p.Thr695Arg) single nucleotide variant not specified [RCV004279697] Chr20:62896363 [GRCh38]
Chr20:61527715 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1045G>A (p.Asp349Asn) single nucleotide variant not specified [RCV004282808] Chr20:62909815 [GRCh38]
Chr20:61541167 [GRCh37]
Chr20:20q13.33		 uncertain significance
GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1 copy number loss Neurodevelopmental disorder [RCV003327727] Chr20:62632017..63794804 [GRCh38]
Chr20:20q13.33		 pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 copy number gain See cases [RCV003329549] Chr20:52773668..62965020 [GRCh37]
Chr20:20q13.2-13.33		 uncertain significance
NM_001193369.2(DIDO1):c.242C>T (p.Ala81Val) single nucleotide variant not specified [RCV004358756] Chr20:62911371 [GRCh38]
Chr20:61542723 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.772A>C (p.Lys258Gln) single nucleotide variant not specified [RCV004288177] Chr20:62910841 [GRCh38]
Chr20:61542193 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1744G>A (p.Ala582Thr) single nucleotide variant not specified [RCV004313277] Chr20:62896841 [GRCh38]
Chr20:61528193 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.500G>A (p.Arg167His) single nucleotide variant not specified [RCV004325573] Chr20:62911113 [GRCh38]
Chr20:61542465 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.4710C>T (p.Thr1570=) single nucleotide variant not provided [RCV003431420] Chr20:62881246 [GRCh38]
Chr20:61512598 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.3882G>A (p.Ala1294=) single nucleotide variant not provided [RCV003440492] Chr20:62882074 [GRCh38]
Chr20:61513426 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.1847C>T (p.Pro616Leu) single nucleotide variant not provided [RCV003440493] Chr20:62896738 [GRCh38]
Chr20:61528090 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.894C>G (p.Gly298=) single nucleotide variant not provided [RCV003431421] Chr20:62909966 [GRCh38]
Chr20:61541318 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.4287G>A (p.Glu1429=) single nucleotide variant not provided [RCV003440491] Chr20:62881669 [GRCh38]
Chr20:61513021 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.1087G>C (p.Asp363His) single nucleotide variant not specified [RCV004354921] Chr20:62909773 [GRCh38]
Chr20:61541125 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.961A>G (p.Ile321Val) single nucleotide variant not specified [RCV004354962] Chr20:62909899 [GRCh38]
Chr20:61541251 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1309C>G (p.Pro437Ala) single nucleotide variant not specified [RCV004344032] Chr20:62907212 [GRCh38]
Chr20:61538564 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.404G>A (p.Arg135Gln) single nucleotide variant not specified [RCV004343826] Chr20:62911209 [GRCh38]
Chr20:61542561 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.577C>T (p.Arg193Trp) single nucleotide variant not specified [RCV004337401] Chr20:62911036 [GRCh38]
Chr20:61542388 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.468C>T (p.Ser156=) single nucleotide variant not provided [RCV003490680] Chr20:62911145 [GRCh38]
Chr20:61542497 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1874C>A (p.Ser625Tyr) single nucleotide variant not specified [RCV004373720] Chr20:62896711 [GRCh38]
Chr20:61528063 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2687C>T (p.Pro896Leu) single nucleotide variant not specified [RCV004373722] Chr20:62894080 [GRCh38]
Chr20:61525432 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.2996C>T (p.Pro999Leu) single nucleotide variant not specified [RCV004373725] Chr20:62893771 [GRCh38]
Chr20:61525123 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.803C>T (p.Ala268Val) single nucleotide variant not specified [RCV004373734] Chr20:62910810 [GRCh38]
Chr20:61542162 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1408C>A (p.Pro470Thr) single nucleotide variant not specified [RCV004373718] Chr20:62906067 [GRCh38]
Chr20:61537419 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1603A>T (p.Arg535Trp) single nucleotide variant not specified [RCV004373719] Chr20:62896982 [GRCh38]
Chr20:61528334 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2911G>A (p.Ala971Thr) single nucleotide variant not specified [RCV004373723] Chr20:62893856 [GRCh38]
Chr20:61525208 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.3526C>T (p.Pro1176Ser) single nucleotide variant not specified [RCV004373728] Chr20:62890975 [GRCh38]
Chr20:61522327 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.118G>A (p.Ala40Thr) single nucleotide variant not specified [RCV004373714] Chr20:62911495 [GRCh38]
Chr20:61542847 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.133G>T (p.Ala45Ser) single nucleotide variant not specified [RCV004373716] Chr20:62911480 [GRCh38]
Chr20:61542832 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.3157C>T (p.Leu1053Phe) single nucleotide variant not specified [RCV004373727] Chr20:62892907 [GRCh38]
Chr20:61524259 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.622A>G (p.Thr208Ala) single nucleotide variant not specified [RCV004373732] Chr20:62910991 [GRCh38]
Chr20:61542343 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.2255C>T (p.Ala752Val) single nucleotide variant not specified [RCV004373721] Chr20:62895125 [GRCh38]
Chr20:61526477 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.3097A>G (p.Ile1033Val) single nucleotide variant not specified [RCV004373726] Chr20:62893670 [GRCh38]
Chr20:61525022 [GRCh37]
Chr20:20q13.33		 likely benign
NM_001193369.2(DIDO1):c.5191G>A (p.Glu1731Lys) single nucleotide variant not specified [RCV004373730] Chr20:62880765 [GRCh38]
Chr20:61512117 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.802G>A (p.Ala268Thr) single nucleotide variant not specified [RCV004373733] Chr20:62910811 [GRCh38]
Chr20:61542163 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.128C>T (p.Ala43Val) single nucleotide variant not specified [RCV004373715] Chr20:62911485 [GRCh38]
Chr20:61542837 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.1387A>G (p.Ile463Val) single nucleotide variant not specified [RCV004373717] Chr20:62906088 [GRCh38]
Chr20:61537440 [GRCh37]
Chr20:20q13.33		 uncertain significance
NM_001193369.2(DIDO1):c.2953C>T (p.Arg985Cys) single nucleotide variant not specified [RCV004373724] Chr20:62893814 [GRCh38]
Chr20:61525166 [GRCh37]
Chr20:20q13.33		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR3157hsa-miR-3157-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:6018
Count of miRNA genes:1168
Interacting mature miRNAs:1474
Transcripts:ENST00000266070, ENST00000266071, ENST00000354665, ENST00000370366, ENST00000370368, ENST00000370371, ENST00000395335, ENST00000395340, ENST00000395343
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
SHGC-57951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,520,180 - 61,520,504UniSTSGRCh37
Build 362060,990,625 - 60,990,949RGDNCBI36
Celera2058,196,806 - 58,197,130RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,237,470 - 58,237,794UniSTS
SHGC-24151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,518,579 - 61,518,788UniSTSGRCh37
Build 362060,989,024 - 60,989,233RGDNCBI36
Celera2058,195,205 - 58,195,414RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,235,869 - 58,236,078UniSTS
GeneMap99-G3 RH Map202846.0UniSTS
RH39018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,537,003 - 61,537,194UniSTSGRCh37
Build 362061,007,448 - 61,007,639RGDNCBI36
Celera2058,213,632 - 58,213,823RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,254,292 - 58,254,483UniSTS
RH80495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,537,018 - 61,537,236UniSTSGRCh37
Build 362061,007,463 - 61,007,681RGDNCBI36
Celera2058,213,647 - 58,213,865RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,254,307 - 58,254,525UniSTS
RH77850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,571,114 - 61,571,271UniSTSGRCh37
Build 362061,041,559 - 61,041,716RGDNCBI36
Celera2058,247,741 - 58,247,898RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,288,130 - 58,288,287UniSTS
RH25609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,518,623 - 61,518,824UniSTSGRCh37
Build 362060,989,068 - 60,989,269RGDNCBI36
Celera2058,195,249 - 58,195,450RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,235,913 - 58,236,114UniSTS
RH18344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,536,369 - 61,536,516UniSTSGRCh37
Build 362061,006,814 - 61,006,961RGDNCBI36
Celera2058,212,998 - 58,213,145RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,253,658 - 58,253,805UniSTS
RH46004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,545,412 - 61,545,598UniSTSGRCh37
Build 362061,015,857 - 61,016,043RGDNCBI36
Celera2058,222,041 - 58,222,227RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,262,703 - 58,262,889UniSTS
RH67654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,553,084 - 61,553,217UniSTSGRCh37
Build 362061,023,529 - 61,023,662RGDNCBI36
Celera2058,229,714 - 58,229,847RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,270,376 - 58,270,509UniSTS
RH92326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,533,867 - 61,534,038UniSTSGRCh37
Build 362061,004,312 - 61,004,483RGDNCBI36
Celera2058,210,494 - 58,210,665RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,251,154 - 58,251,325UniSTS
SHGC-58609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,570,876 - 61,570,969UniSTSGRCh37
Build 362061,041,321 - 61,041,414RGDNCBI36
Celera2058,247,503 - 58,247,596RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,287,892 - 58,287,985UniSTS
SHGC-2352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,518,642 - 61,518,798UniSTSGRCh37
Build 362060,989,087 - 60,989,243RGDNCBI36
Celera2058,195,268 - 58,195,424RGD
Cytogenetic Map20q13.33UniSTS
HuRef2058,235,932 - 58,236,088UniSTS
GeneMap99-G3 RH Map202846.0UniSTS
G32962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,553,084 - 61,553,217UniSTSGRCh37
Celera2058,229,714 - 58,229,847UniSTS
Cytogenetic Map20q13.33UniSTS
HuRef2058,270,376 - 58,270,509UniSTS


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 2352 1561 1279 260 1321 106 3771 1189 1691 274 1436 1581 170 1 1118 2220 6 2
Low 87 1427 447 364 627 359 586 1008 2043 145 24 32 5 86 568
Below cutoff 3 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF085876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI291497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW206895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY481571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY481572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG677268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG755041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG771506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI830580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ045451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX404270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD637702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK300739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN348577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN348578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN370110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN370112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA294135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA506324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB460917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000266070   ⟹   ENSP00000266070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,877,738 - 62,937,952 (-)Ensembl
RefSeq Acc Id: ENST00000354665   ⟹   ENSP00000346692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,905,005 - 62,926,469 (-)Ensembl
RefSeq Acc Id: ENST00000370366   ⟹   ENSP00000359391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,905,006 - 62,914,406 (-)Ensembl
RefSeq Acc Id: ENST00000370368   ⟹   ENSP00000359394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,905,003 - 62,926,471 (-)Ensembl
RefSeq Acc Id: ENST00000370371   ⟹   ENSP00000359397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,904,998 - 62,937,952 (-)Ensembl
RefSeq Acc Id: ENST00000395340   ⟹   ENSP00000378749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,887,214 - 62,926,503 (-)Ensembl
RefSeq Acc Id: ENST00000395343   ⟹   ENSP00000378752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2062,877,743 - 62,926,505 (-)Ensembl
RefSeq Acc Id: NM_001193369   ⟹   NP_001180298
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,877,743 - 62,926,505 (-)NCBI
GRCh372061,509,090 - 61,569,304 (-)RGD
Celera2058,185,696 - 58,245,931 (-)RGD
HuRef2058,226,477 - 58,286,320 (-)RGD
CHM1_12061,410,099 - 61,458,912 (-)NCBI
T2T-CHM13v2.02064,677,856 - 64,726,619 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193370   ⟹   NP_001180299
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,887,214 - 62,926,505 (-)NCBI
GRCh372061,509,090 - 61,569,304 (-)RGD
Celera2058,185,696 - 58,245,931 (-)RGD
HuRef2058,226,477 - 58,286,320 (-)RGD
CHM1_12061,419,569 - 61,458,912 (-)NCBI
T2T-CHM13v2.02064,687,327 - 64,726,619 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022105   ⟹   NP_071388
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,905,006 - 62,937,904 (-)NCBI
GRCh372061,509,090 - 61,569,304 (-)RGD
Build 362061,006,800 - 61,039,719 (-)NCBI Archive
Celera2058,185,696 - 58,245,931 (-)RGD
HuRef2058,226,477 - 58,286,320 (-)RGD
CHM1_12061,437,359 - 61,470,313 (-)NCBI
T2T-CHM13v2.02064,705,120 - 64,738,018 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033081   ⟹   NP_149072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,877,743 - 62,937,904 (-)NCBI
GRCh372061,509,090 - 61,569,304 (-)RGD
Build 362060,979,535 - 61,039,719 (-)NCBI Archive
Celera2058,185,696 - 58,245,931 (-)RGD
HuRef2058,226,477 - 58,286,320 (-)RGD
CHM1_12061,410,099 - 61,470,313 (-)NCBI
T2T-CHM13v2.02064,677,856 - 64,738,018 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080796   ⟹   NP_542986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,905,006 - 62,926,505 (-)NCBI
GRCh372061,509,090 - 61,569,304 (-)RGD
Build 362061,006,800 - 61,028,290 (-)NCBI Archive
Celera2058,185,696 - 58,245,931 (-)RGD
HuRef2058,226,477 - 58,286,320 (-)RGD
CHM1_12061,437,359 - 61,458,912 (-)NCBI
T2T-CHM13v2.02064,705,120 - 64,726,619 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080797   ⟹   NP_542987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,887,214 - 62,937,904 (-)NCBI
GRCh372061,509,090 - 61,569,304 (-)RGD
Build 362060,989,014 - 61,039,719 (-)NCBI Archive
Celera2058,185,696 - 58,245,931 (-)RGD
HuRef2058,226,477 - 58,286,320 (-)RGD
CHM1_12061,419,569 - 61,470,313 (-)NCBI
T2T-CHM13v2.02064,687,327 - 64,738,018 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_149072   ⟸   NM_033081
- Peptide Label: isoform c
- UniProtKB: Q9NUM8 (UniProtKB/Swiss-Prot),   Q9NTU8 (UniProtKB/Swiss-Prot),   Q9H4G7 (UniProtKB/Swiss-Prot),   Q9H4G6 (UniProtKB/Swiss-Prot),   Q9BW03 (UniProtKB/Swiss-Prot),   Q9BQW0 (UniProtKB/Swiss-Prot),   Q96D72 (UniProtKB/Swiss-Prot),   Q4VXV9 (UniProtKB/Swiss-Prot),   Q4VXV8 (UniProtKB/Swiss-Prot),   Q4VXS2 (UniProtKB/Swiss-Prot),   Q4VXS1 (UniProtKB/Swiss-Prot),   Q3ZTL8 (UniProtKB/Swiss-Prot),   Q3ZTL7 (UniProtKB/Swiss-Prot),   O15043 (UniProtKB/Swiss-Prot),   E1P5I1 (UniProtKB/Swiss-Prot),   B9EH82 (UniProtKB/Swiss-Prot),   A8MY65 (UniProtKB/Swiss-Prot),   Q9UFB6 (UniProtKB/Swiss-Prot),   Q9BTC0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180298   ⟸   NM_001193369
- Peptide Label: isoform c
- UniProtKB: Q9NUM8 (UniProtKB/Swiss-Prot),   Q9NTU8 (UniProtKB/Swiss-Prot),   Q9H4G7 (UniProtKB/Swiss-Prot),   Q9H4G6 (UniProtKB/Swiss-Prot),   Q9BW03 (UniProtKB/Swiss-Prot),   Q9BQW0 (UniProtKB/Swiss-Prot),   Q96D72 (UniProtKB/Swiss-Prot),   Q4VXV9 (UniProtKB/Swiss-Prot),   Q4VXV8 (UniProtKB/Swiss-Prot),   Q4VXS2 (UniProtKB/Swiss-Prot),   Q4VXS1 (UniProtKB/Swiss-Prot),   Q3ZTL8 (UniProtKB/Swiss-Prot),   Q3ZTL7 (UniProtKB/Swiss-Prot),   O15043 (UniProtKB/Swiss-Prot),   E1P5I1 (UniProtKB/Swiss-Prot),   B9EH82 (UniProtKB/Swiss-Prot),   A8MY65 (UniProtKB/Swiss-Prot),   Q9UFB6 (UniProtKB/Swiss-Prot),   Q9BTC0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_542987   ⟸   NM_080797
- Peptide Label: isoform b
- UniProtKB: Q9BTC0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180299   ⟸   NM_001193370
- Peptide Label: isoform b
- UniProtKB: Q9BTC0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_071388   ⟸   NM_022105
- Peptide Label: isoform a
- UniProtKB: Q9BTC0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_542986   ⟸   NM_080796
- Peptide Label: isoform a
- UniProtKB: Q9BTC0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000266070   ⟸   ENST00000266070
RefSeq Acc Id: ENSP00000359391   ⟸   ENST00000370366
RefSeq Acc Id: ENSP00000359394   ⟸   ENST00000370368
RefSeq Acc Id: ENSP00000359397   ⟸   ENST00000370371
RefSeq Acc Id: ENSP00000346692   ⟸   ENST00000354665
RefSeq Acc Id: ENSP00000378752   ⟸   ENST00000395343
RefSeq Acc Id: ENSP00000378749   ⟸   ENST00000395340
Protein Domains
TFIIS central

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BTC0-F1-model_v2 AlphaFold Q9BTC0 1-2240 view protein structure

Promoters
RGD ID:6798630
Promoter ID:HG_KWN:40132
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000080086
Position:
Human AssemblyChrPosition (strand)Source
Build 362060,997,611 - 60,998,111 (-)MPROMDB
RGD ID:6812027
Promoter ID:HG_ACW:49999
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:DIDO1.MAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362061,004,881 - 61,005,381 (-)MPROMDB
RGD ID:6798681
Promoter ID:HG_KWN:40133
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000370366
Position:
Human AssemblyChrPosition (strand)Source
Build 362061,016,674 - 61,017,174 (-)MPROMDB
RGD ID:6798629
Promoter ID:HG_KWN:40134
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000395340,   NM_080796,   UC002YDR.1,   UC002YDW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362061,027,806 - 61,028,982 (-)MPROMDB
RGD ID:6812037
Promoter ID:HG_ACW:50004
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:DIDO1.OAPR07-UNSPLICED,   SNEYTAW.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362061,030,889 - 61,031,389 (-)MPROMDB
RGD ID:6798634
Promoter ID:HG_KWN:40135
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000266071,   ENST00000395335,   NM_017896,   NM_033081,   NM_080797,   OTTHUMT00000080087,   OTTHUMT00000080098
Position:
Human AssemblyChrPosition (strand)Source
Build 362061,039,566 - 61,040,332 (-)MPROMDB
RGD ID:13602352
Promoter ID:EPDNEW_H27360
Type:initiation region
Name:DIDO1_3
Description:death inducer-obliterator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27361  EPDNEW_H27364  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,926,374 - 62,926,434EPDNEW
RGD ID:13602354
Promoter ID:EPDNEW_H27361
Type:initiation region
Name:DIDO1_1
Description:death inducer-obliterator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27360  EPDNEW_H27364  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,926,505 - 62,926,565EPDNEW
RGD ID:13602360
Promoter ID:EPDNEW_H27364
Type:initiation region
Name:DIDO1_2
Description:death inducer-obliterator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27360  EPDNEW_H27361  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382062,937,895 - 62,937,955EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2680 AgrOrtholog
COSMIC DIDO1 COSMIC
Ensembl Genes ENSG00000101191 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000266070 ENTREZGENE
  ENST00000266070.8 UniProtKB/Swiss-Prot
  ENST00000354665 ENTREZGENE
  ENST00000354665.8 UniProtKB/Swiss-Prot
  ENST00000370366.1 UniProtKB/Swiss-Prot
  ENST00000370368.5 UniProtKB/Swiss-Prot
  ENST00000370371 ENTREZGENE
  ENST00000370371.8 UniProtKB/Swiss-Prot
  ENST00000395340 ENTREZGENE
  ENST00000395340.5 UniProtKB/Swiss-Prot
  ENST00000395343 ENTREZGENE
  ENST00000395343.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.472.30 UniProtKB/Swiss-Prot
  3.30.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000101191 GTEx
HGNC ID HGNC:2680 ENTREZGENE
Human Proteome Map DIDO1 Human Proteome Map
InterPro DIDO1 UniProtKB/Swiss-Prot
  SPOC_C UniProtKB/Swiss-Prot
  TFIIS_cen_dom UniProtKB/Swiss-Prot
  TFIIS_cen_dom_sf UniProtKB/Swiss-Prot
  Zinc_finger_PHD-type_CS UniProtKB/Swiss-Prot
  Znf_FYVE_PHD UniProtKB/Swiss-Prot
  Znf_PHD UniProtKB/Swiss-Prot
  Znf_PHD-finger UniProtKB/Swiss-Prot
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot
KEGG Report hsa:11083 UniProtKB/Swiss-Prot
NCBI Gene 11083 ENTREZGENE
OMIM 604140 OMIM
PANTHER PTHR11477:SF13 UniProtKB/Swiss-Prot
  TRANSCRIPTION FACTOR S-II ZINC FINGER DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
Pfam PHD UniProtKB/Swiss-Prot
  SPOC UniProtKB/Swiss-Prot
  TFIIS_M UniProtKB/Swiss-Prot
PharmGKB PA27147 PharmGKB
PROSITE TFIIS_CENTRAL UniProtKB/Swiss-Prot
  ZF_PHD_1 UniProtKB/Swiss-Prot
  ZF_PHD_2 UniProtKB/Swiss-Prot
SMART PHD UniProtKB/Swiss-Prot
  TFS2M UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46942 UniProtKB/Swiss-Prot
  SSF57903 UniProtKB/Swiss-Prot
UniProt A8MY65 ENTREZGENE
  B9EH82 ENTREZGENE
  DIDO1_HUMAN UniProtKB/Swiss-Prot
  E1P5I1 ENTREZGENE
  O15043 ENTREZGENE
  Q3ZTL7 ENTREZGENE
  Q3ZTL8 ENTREZGENE
  Q4VXS1 ENTREZGENE
  Q4VXS2 ENTREZGENE
  Q4VXV8 ENTREZGENE
  Q4VXV9 ENTREZGENE
  Q96D72 ENTREZGENE
  Q9BQW0 ENTREZGENE
  Q9BTC0 ENTREZGENE
  Q9BW03 ENTREZGENE
  Q9H4G6 ENTREZGENE
  Q9H4G7 ENTREZGENE
  Q9NTU8 ENTREZGENE
  Q9NUM8 ENTREZGENE
  Q9UFB6 ENTREZGENE
UniProt Secondary A8MY65 UniProtKB/Swiss-Prot
  B9EH82 UniProtKB/Swiss-Prot
  E1P5I1 UniProtKB/Swiss-Prot
  O15043 UniProtKB/Swiss-Prot
  Q3ZTL7 UniProtKB/Swiss-Prot
  Q3ZTL8 UniProtKB/Swiss-Prot
  Q4VXS1 UniProtKB/Swiss-Prot
  Q4VXS2 UniProtKB/Swiss-Prot
  Q4VXV8 UniProtKB/Swiss-Prot
  Q4VXV9 UniProtKB/Swiss-Prot
  Q96D72 UniProtKB/Swiss-Prot
  Q9BQW0 UniProtKB/Swiss-Prot
  Q9BW03 UniProtKB/Swiss-Prot
  Q9H4G6 UniProtKB/Swiss-Prot
  Q9H4G7 UniProtKB/Swiss-Prot
  Q9NTU8 UniProtKB/Swiss-Prot
  Q9NUM8 UniProtKB/Swiss-Prot
  Q9UFB6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-10 DIDO1  death inducer-obliterator 1  C20orf158  chromosome 20 open reading frame 158  Data merged from RGD:1347805 737654 PROVISIONAL