PIDD1 (p53-induced death domain protein 1) - Rat Genome Database

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Gene: PIDD1 (p53-induced death domain protein 1) Homo sapiens
Analyze
Symbol: PIDD1
Name: p53-induced death domain protein 1
RGD ID: 1323429
HGNC Page HGNC:16491
Description: Enables endopeptidase activity. Involved in several processes, including DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; activation of cysteine-type endopeptidase activity involved in apoptotic process; and protein autoprocessing. Located in Golgi apparatus; cytosol; and nucleus. Part of endopeptidase complex. Implicated in autosomal recessive intellectual developmental disorder 75.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp434D229; leucine-rich and death domain containing; leucine-rich repeat and death domain-containing protein; leucine-rich repeats and death domain containing; LRDD; MGC16925; MRT75; p53-induced death domain-containing protein 1; p53-induced protein with a death domain; PIDD
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
GRCh3811799,184 - 809,501 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11799,179 - 809,753 (-)EnsemblGRCh38hg38GRCh38
GRCh3711799,184 - 805,231 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611789,179 - 795,245 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411789,178 - 794,464NCBI
Celera11865,757 - 871,046 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11615,945 - 621,235 (-)NCBIHuRef
CHM1_111798,086 - 804,157 (-)NCBICHM1_1
T2T-CHM13v2.011850,616 - 861,222 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(S)-colchicine  (EXP)
(S)-naringenin  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-nitrophenol  (ISO)
adefovir pivoxil  (EXP)
adenine  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
avobenzone  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP,ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
cidofovir anhydrous  (EXP)
cisplatin  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
diazinon  (EXP,ISO)
dieldrin  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
ethyl methanesulfonate  (EXP)
formaldehyde  (EXP)
hydroxyurea  (ISO)
ifosfamide  (EXP)
indinavir  (ISO)
lamivudine  (ISO)
lead diacetate  (ISO)
leptomycin B  (EXP)
metformin  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
nickel dichloride  (ISO)
nicotine  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenylmercury acetate  (EXP)
pifithrin-?  (ISO)
pyrogallol  (ISO)
quercetin  (EXP)
quercitrin  (EXP)
resveratrol  (EXP)
saquinavir  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloroethene  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA,IMP)
cytosol  (IDA,TAS)
endopeptidase complex  (IPI)
Golgi apparatus  (IDA)
nucleolus  (NAS)
nucleoplasm  (TAS)
nucleus  (IDA,IEA,IMP)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10825539   PMID:10973264   PMID:12477932   PMID:14702039   PMID:15073321   PMID:15146197   PMID:15489334   PMID:16189514   PMID:16360037   PMID:16652156   PMID:16982033   PMID:17159900  
PMID:17329820   PMID:17437012   PMID:17637755   PMID:18238895   PMID:18309324   PMID:19060904   PMID:20208132   PMID:20395368   PMID:20406701   PMID:20935634   PMID:20966961   PMID:21371439  
PMID:21415862   PMID:21726810   PMID:21873635   PMID:21988832   PMID:22854598   PMID:23049853   PMID:25936804   PMID:26514267   PMID:26846109   PMID:27773430   PMID:28432080   PMID:28686357  
PMID:29309644   PMID:29676528   PMID:30021884   PMID:31455821   PMID:31582733   PMID:32194167   PMID:32296183   PMID:33414379   PMID:33961781   PMID:34163010   PMID:36689811   PMID:37530438  


Genomics

Comparative Map Data
PIDD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811799,184 - 809,501 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11799,179 - 809,753 (-)EnsemblGRCh38hg38GRCh38
GRCh3711799,184 - 805,231 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611789,179 - 795,245 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411789,178 - 794,464NCBI
Celera11865,757 - 871,046 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11615,945 - 621,235 (-)NCBIHuRef
CHM1_111798,086 - 804,157 (-)NCBICHM1_1
T2T-CHM13v2.011850,616 - 861,222 (-)NCBIT2T-CHM13v2.0
Pidd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397141,018,026 - 141,027,477 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7141,018,026 - 141,023,938 (-)EnsemblGRCm39 Ensembl
GRCm387141,438,113 - 141,447,565 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7141,438,113 - 141,444,025 (-)EnsemblGRCm38mm10GRCm38
MGSCv377148,624,414 - 148,629,254 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367141,289,835 - 141,294,675 (-)NCBIMGSCv36mm8
Celera7141,232,261 - 141,237,101 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map786.79NCBI
Pidd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81205,966,392 - 205,972,359 (-)NCBIGRCr8
mRatBN7.21196,536,815 - 196,542,808 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1196,536,834 - 196,542,699 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1204,882,305 - 204,887,513 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01212,010,804 - 212,016,012 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01204,684,942 - 204,690,150 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01214,418,751 - 214,423,959 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1214,419,240 - 214,423,881 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1213,981,845 - 213,987,053 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01220,899,055 - 220,904,896 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41201,626,042 - 201,631,182 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11201,779,826 - 201,784,615 (-)NCBI
Celera1194,170,330 - 194,175,538 (-)NCBICelera
Cytogenetic Map1q41NCBI
Pidd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547611,326,626 - 11,331,360 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547611,325,877 - 11,331,447 (+)NCBIChiLan1.0ChiLan1.0
PIDD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v293,196,776 - 3,207,304 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,406,723 - 2,417,252 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011816,629 - 827,295 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111860,899 - 871,142 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11860,899 - 867,436 (-)Ensemblpanpan1.1panPan2
PIDD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11845,168,244 - 45,174,085 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1845,168,245 - 45,173,107 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1843,835,056 - 43,840,737 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01845,832,904 - 45,838,579 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1845,832,962 - 45,838,432 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11845,297,786 - 45,303,466 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01844,862,698 - 44,868,365 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01845,600,730 - 45,606,414 (-)NCBIUU_Cfam_GSD_1.0
Pidd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947565,889 - 571,659 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936888565,912 - 571,247 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936888565,889 - 571,273 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIDD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2499,303 - 504,871 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12499,294 - 505,740 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22167,921 - 175,059 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIDD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11602,594 - 609,388 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1602,721 - 607,893 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603897,694,844 - 97,701,083 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pidd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476621,704,798 - 21,710,633 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476621,704,836 - 21,710,286 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIDD1
133 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1 copy number loss See cases [RCV000052645] Chr11:758848..1998025 [GRCh38]
Chr11:758848..2019255 [GRCh37]
Chr11:748848..1975831 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5(chr11:680365-827724)x3 copy number gain See cases [RCV000239908] Chr11:680365..827724 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_145886.4(PIDD1):c.1412C>T (p.Ser471Leu) single nucleotide variant Inborn genetic diseases [RCV003297924] Chr11:801515 [GRCh38]
Chr11:801515 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5(chr11:771034-850319)x3 copy number gain not provided [RCV000737364] Chr11:771034..850319 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:800921-850319)x3 copy number gain not provided [RCV000737365] Chr11:800921..850319 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:800921-1015021)x3 copy number gain not provided [RCV000737366] Chr11:800921..1015021 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:801492-837257)x3 copy number gain not provided [RCV000737367] Chr11:801492..837257 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:381754-821676)x3 copy number gain not provided [RCV000749876] Chr11:381754..821676 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:556531-927020)x3 copy number gain not provided [RCV000749890] Chr11:556531..927020 [GRCh37]
Chr11:11p15.5		 benign
NM_145886.4(PIDD1):c.1101C>T (p.Leu367=) single nucleotide variant not provided [RCV000947309] Chr11:802270 [GRCh38]
Chr11:802270 [GRCh37]
Chr11:11p15.5		 benign
NM_145886.4(PIDD1):c.23C>T (p.Pro8Leu) single nucleotide variant not provided [RCV000947310] Chr11:804366 [GRCh38]
Chr11:804366 [GRCh37]
Chr11:11p15.5		 benign
NM_145886.4(PIDD1):c.2682C>G (p.Pro894=) single nucleotide variant not provided [RCV000947307] Chr11:799358 [GRCh38]
Chr11:799358 [GRCh37]
Chr11:11p15.5		 benign
NM_145886.4(PIDD1):c.2028C>T (p.Ile676=) single nucleotide variant not provided [RCV000947308] Chr11:800556 [GRCh38]
Chr11:800556 [GRCh37]
Chr11:11p15.5		 benign
NM_145886.4(PIDD1):c.1590A>G (p.Gln530=) single nucleotide variant PIDD1-related disorder [RCV004553487]|not provided [RCV000971573] Chr11:801258 [GRCh38]
Chr11:801258 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_145886.4(PIDD1):c.2042-8T>C single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV003989610]|PIDD1-related disorder [RCV004551672]|not provided [RCV000893681] Chr11:800459 [GRCh38]
Chr11:800459 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_145886.4(PIDD1):c.2587C>T (p.Gln863Ter) single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV002249778]|Intellectual disability [RCV001195079] Chr11:799453 [GRCh38]
Chr11:799453 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5(chr11:733608-986824)x3 copy number gain not provided [RCV000846573] Chr11:733608..986824 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter) single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV003128102]|not provided [RCV004725646] Chr11:800770 [GRCh38]
Chr11:800770 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_145886.4(PIDD1):c.2032G>A (p.Val678Met) single nucleotide variant Inborn genetic diseases [RCV003241449] Chr11:800552 [GRCh38]
Chr11:800552 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.34G>A (p.Ala12Thr) single nucleotide variant Inborn genetic diseases [RCV003275325] Chr11:804355 [GRCh38]
Chr11:804355 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:230615-1150353)x3 copy number gain not provided [RCV001259592] Chr11:230615..1150353 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_145886.4(PIDD1):c.710-11A>C single nucleotide variant not provided [RCV001679175] Chr11:802902 [GRCh38]
Chr11:802902 [GRCh37]
Chr11:11p15.5		 benign
NM_145886.4(PIDD1):c.2443C>T (p.Arg815Trp) single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV002248357] Chr11:799846 [GRCh38]
Chr11:799846 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_145886.4(PIDD1):c.2173C>T (p.Arg725Cys) single nucleotide variant Inborn genetic diseases [RCV004045177]|not provided [RCV002244427] Chr11:800232 [GRCh38]
Chr11:800232 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_678674)_(838192_?)dup duplication not provided [RCV001982636] Chr11:678674..838192 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2042-2A>G single nucleotide variant Inborn genetic diseases [RCV004651723]|Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV003989717]|PIDD1-associated neurodevelopmental disorder [RCV002266016]|PIDD1-related disorder [RCV001808929]|not provided [RCV002541474] Chr11:800453 [GRCh38]
Chr11:800453 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|uncertain significance
NM_145886.4(PIDD1):c.1303-20T>A single nucleotide variant not provided [RCV001823410] Chr11:801644 [GRCh38]
Chr11:801644 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4		 not provided
GRCh37/hg19 11p15.5(chr11:648556-1021236)x3 copy number gain not provided [RCV001834449] Chr11:648556..1021236 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1804_1805del (p.Gly602fs) deletion Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV002248360] Chr11:800874..800875 [GRCh38]
Chr11:800874..800875 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_145886.4(PIDD1):c.2584C>T (p.Arg862Trp) single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV002248358]|not provided [RCV004729114] Chr11:799456 [GRCh38]
Chr11:799456 [GRCh37]
Chr11:11p15.5		 pathogenic
NC_000011.9:g.(?_532636)_(819925_?)dup duplication Neutral lipid storage myopathy [RCV003109697] Chr11:532636..819925 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_721044)_(3988932_?)dup duplication not provided [RCV003113442] Chr11:721044..3988932 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_145886.4(PIDD1):c.2275-1G>A single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV002248356] Chr11:800015 [GRCh38]
Chr11:800015 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_145886.4(PIDD1):c.2116_2120del (p.Val706fs) deletion Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV002248359] Chr11:800373..800377 [GRCh38]
Chr11:800373..800377 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_145886.4(PIDD1):c.1173G>A (p.Gln391=) single nucleotide variant PIDD1-associated neurodevelopmental disorder [RCV002266778] Chr11:802198 [GRCh38]
Chr11:802198 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_145886.4(PIDD1):c.52G>C (p.Asp18His) single nucleotide variant Inborn genetic diseases [RCV003256021] Chr11:804337 [GRCh38]
Chr11:804337 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.422C>T (p.Pro141Leu) single nucleotide variant Inborn genetic diseases [RCV003256086] Chr11:803461 [GRCh38]
Chr11:803461 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1490G>T (p.Arg497Leu) single nucleotide variant Inborn genetic diseases [RCV003304276] Chr11:801358 [GRCh38]
Chr11:801358 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1466G>A (p.Arg489His) single nucleotide variant not provided [RCV002967693] Chr11:801461 [GRCh38]
Chr11:801461 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_145886.4(PIDD1):c.2626G>A (p.Gly876Ser) single nucleotide variant not provided [RCV002300698] Chr11:799414 [GRCh38]
Chr11:799414 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2608C>T (p.Arg870Cys) single nucleotide variant Inborn genetic diseases [RCV002779221] Chr11:799432 [GRCh38]
Chr11:799432 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1570G>A (p.Gly524Ser) single nucleotide variant Inborn genetic diseases [RCV002997773] Chr11:801278 [GRCh38]
Chr11:801278 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.338C>T (p.Ala113Val) single nucleotide variant Inborn genetic diseases [RCV002970018] Chr11:803545 [GRCh38]
Chr11:803545 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.331C>T (p.Arg111Trp) single nucleotide variant Inborn genetic diseases [RCV002879964] Chr11:803552 [GRCh38]
Chr11:803552 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.589C>G (p.Gln197Glu) single nucleotide variant not provided [RCV002907802] Chr11:803294 [GRCh38]
Chr11:803294 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1220G>C (p.Arg407Pro) single nucleotide variant Inborn genetic diseases [RCV002840774] Chr11:802047 [GRCh38]
Chr11:802047 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1645C>T (p.Arg549Cys) single nucleotide variant Inborn genetic diseases [RCV002990098] Chr11:801106 [GRCh38]
Chr11:801106 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1651C>T (p.Arg551Cys) single nucleotide variant Inborn genetic diseases [RCV002974272]|not provided [RCV004698878] Chr11:801100 [GRCh38]
Chr11:801100 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1955G>A (p.Arg652Gln) single nucleotide variant Inborn genetic diseases [RCV002689549] Chr11:800629 [GRCh38]
Chr11:800629 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2174G>A (p.Arg725His) single nucleotide variant Inborn genetic diseases [RCV002973507] Chr11:800231 [GRCh38]
Chr11:800231 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1040C>T (p.Ala347Val) single nucleotide variant Inborn genetic diseases [RCV002818706] Chr11:802331 [GRCh38]
Chr11:802331 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.853G>T (p.Ala285Ser) single nucleotide variant Inborn genetic diseases [RCV002969950] Chr11:802748 [GRCh38]
Chr11:802748 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.92C>T (p.Pro31Leu) single nucleotide variant Inborn genetic diseases [RCV002844939] Chr11:804297 [GRCh38]
Chr11:804297 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2399G>C (p.Gly800Ala) single nucleotide variant Inborn genetic diseases [RCV002924433] Chr11:799890 [GRCh38]
Chr11:799890 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2226G>T (p.Arg742Ser) single nucleotide variant Inborn genetic diseases [RCV002783044]|not specified [RCV003479488] Chr11:800179 [GRCh38]
Chr11:800179 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.52G>A (p.Asp18Asn) single nucleotide variant Inborn genetic diseases [RCV002660664] Chr11:804337 [GRCh38]
Chr11:804337 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1635_1636del (p.Leu547fs) deletion not provided [RCV003100219] Chr11:801115..801116 [GRCh38]
Chr11:801115..801116 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_145886.4(PIDD1):c.2228A>G (p.Lys743Arg) single nucleotide variant Inborn genetic diseases [RCV002797461] Chr11:800177 [GRCh38]
Chr11:800177 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.722C>T (p.Ser241Phe) single nucleotide variant Inborn genetic diseases [RCV002924434] Chr11:802879 [GRCh38]
Chr11:802879 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1277C>T (p.Thr426Ile) single nucleotide variant Inborn genetic diseases [RCV002870013] Chr11:801990 [GRCh38]
Chr11:801990 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1774C>T (p.Leu592Phe) single nucleotide variant Inborn genetic diseases [RCV003004822] Chr11:800905 [GRCh38]
Chr11:800905 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.853G>A (p.Ala285Thr) single nucleotide variant Inborn genetic diseases [RCV002708532] Chr11:802748 [GRCh38]
Chr11:802748 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.751C>T (p.Leu251Phe) single nucleotide variant Inborn genetic diseases [RCV002916896] Chr11:802850 [GRCh38]
Chr11:802850 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1076G>A (p.Arg359Gln) single nucleotide variant Inborn genetic diseases [RCV002744446] Chr11:802295 [GRCh38]
Chr11:802295 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2524C>T (p.Arg842Cys) single nucleotide variant Inborn genetic diseases [RCV002985761] Chr11:799516 [GRCh38]
Chr11:799516 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1217G>A (p.Arg406Gln) single nucleotide variant Inborn genetic diseases [RCV002748410] Chr11:802050 [GRCh38]
Chr11:802050 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2363C>T (p.Thr788Met) single nucleotide variant Inborn genetic diseases [RCV002964480]|not provided [RCV004698877] Chr11:799926 [GRCh38]
Chr11:799926 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2473C>T (p.Arg825Trp) single nucleotide variant Inborn genetic diseases [RCV002898285] Chr11:799816 [GRCh38]
Chr11:799816 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.358G>C (p.Gly120Arg) single nucleotide variant Inborn genetic diseases [RCV002813632] Chr11:803525 [GRCh38]
Chr11:803525 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2461C>T (p.Arg821Trp) single nucleotide variant Inborn genetic diseases [RCV002960499]|not provided [RCV003321978] Chr11:799828 [GRCh38]
Chr11:799828 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2657G>A (p.Arg886His) single nucleotide variant Inborn genetic diseases [RCV002808448] Chr11:799383 [GRCh38]
Chr11:799383 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.278G>A (p.Arg93His) single nucleotide variant Inborn genetic diseases [RCV002678371]|not provided [RCV004725572] Chr11:804111 [GRCh38]
Chr11:804111 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2722G>A (p.Ala908Thr) single nucleotide variant Inborn genetic diseases [RCV002652848] Chr11:799318 [GRCh38]
Chr11:799318 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1025G>A (p.Arg342His) single nucleotide variant Inborn genetic diseases [RCV002652898] Chr11:802346 [GRCh38]
Chr11:802346 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1343T>G (p.Phe448Cys) single nucleotide variant Inborn genetic diseases [RCV002655713] Chr11:801584 [GRCh38]
Chr11:801584 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1990G>A (p.Glu664Lys) single nucleotide variant Inborn genetic diseases [RCV003215353] Chr11:800594 [GRCh38]
Chr11:800594 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2467G>A (p.Glu823Lys) single nucleotide variant Inborn genetic diseases [RCV003176210] Chr11:799822 [GRCh38]
Chr11:799822 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2153G>A (p.Arg718Gln) single nucleotide variant Inborn genetic diseases [RCV003178453] Chr11:800340 [GRCh38]
Chr11:800340 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.677C>T (p.Ser226Phe) single nucleotide variant Inborn genetic diseases [RCV003218824] Chr11:803206 [GRCh38]
Chr11:803206 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.308G>A (p.Arg103Gln) single nucleotide variant Inborn genetic diseases [RCV003176119] Chr11:803575 [GRCh38]
Chr11:803575 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2192G>A (p.Arg731Gln) single nucleotide variant Inborn genetic diseases [RCV003178001] Chr11:800213 [GRCh38]
Chr11:800213 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.1814G>A (p.Arg605Gln) single nucleotide variant Inborn genetic diseases [RCV003173334]|not provided [RCV003443179] Chr11:800865 [GRCh38]
Chr11:800865 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2191C>T (p.Arg731Trp) single nucleotide variant Inborn genetic diseases [RCV003183320] Chr11:800214 [GRCh38]
Chr11:800214 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2101G>A (p.Val701Met) single nucleotide variant Inborn genetic diseases [RCV003205046] Chr11:800392 [GRCh38]
Chr11:800392 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1666T>C (p.Tyr556His) single nucleotide variant Inborn genetic diseases [RCV003189877] Chr11:801085 [GRCh38]
Chr11:801085 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.478C>T (p.Leu160Phe) single nucleotide variant Inborn genetic diseases [RCV003214942] Chr11:803405 [GRCh38]
Chr11:803405 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2684C>G (p.Ala895Gly) single nucleotide variant Inborn genetic diseases [RCV003357555] Chr11:799356 [GRCh38]
Chr11:799356 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2447A>G (p.Glu816Gly) single nucleotide variant Inborn genetic diseases [RCV003342448] Chr11:799842 [GRCh38]
Chr11:799842 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2474+18C>G single nucleotide variant not specified [RCV003330451] Chr11:799797 [GRCh38]
Chr11:799797 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.2475-19G>A single nucleotide variant not specified [RCV003330452] Chr11:799584 [GRCh38]
Chr11:799584 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.520A>G (p.Thr174Ala) single nucleotide variant Inborn genetic diseases [RCV003345676] Chr11:803363 [GRCh38]
Chr11:803363 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2213C>G (p.Ala738Gly) single nucleotide variant Inborn genetic diseases [RCV003376922] Chr11:800192 [GRCh38]
Chr11:800192 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2273C>T (p.Pro758Leu) single nucleotide variant Inborn genetic diseases [RCV003373564] Chr11:800132 [GRCh38]
Chr11:800132 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2654G>A (p.Arg885Gln) single nucleotide variant Inborn genetic diseases [RCV003353400] Chr11:799386 [GRCh38]
Chr11:799386 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.1369A>G (p.Asn457Asp) single nucleotide variant Inborn genetic diseases [RCV003386566] Chr11:801558 [GRCh38]
Chr11:801558 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys) single nucleotide variant Developmental and epileptic encephalopathy, 3 [RCV004731534]|Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV003445369] Chr11:800449 [GRCh38]
Chr11:800449 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_145886.4(PIDD1):c.71A>G (p.Asp24Gly) single nucleotide variant not specified [RCV003479811] Chr11:804318 [GRCh38]
Chr11:804318 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1303-13_1303-12insTC insertion not specified [RCV003479812] Chr11:801636..801637 [GRCh38]
Chr11:801636..801637 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.514G>A (p.Ala172Thr) single nucleotide variant not provided [RCV003441590] Chr11:803369 [GRCh38]
Chr11:803369 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.855C>T (p.Ala285=) single nucleotide variant not provided [RCV003422922] Chr11:802746 [GRCh38]
Chr11:802746 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.2200G>A (p.Glu734Lys) single nucleotide variant PIDD1-related disorder [RCV004552520] Chr11:800205 [GRCh38]
Chr11:800205 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.109C>T (p.Arg37Trp) single nucleotide variant Inborn genetic diseases [RCV004364492]|not provided [RCV003422923] Chr11:804280 [GRCh38]
Chr11:804280 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_145886.4(PIDD1):c.2289C>T (p.Ser763=) single nucleotide variant not specified [RCV003489594] Chr11:800000 [GRCh38]
Chr11:800000 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.733C>A (p.Leu245Ile) single nucleotide variant PIDD1-related disorder [RCV004552681] Chr11:802868 [GRCh38]
Chr11:802868 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5(chr11:743761-894572)x1 copy number loss not specified [RCV003986955] Chr11:743761..894572 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1303-10_1303-9insT insertion Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV003993600] Chr11:801633..801634 [GRCh38]
Chr11:801633..801634 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.501G>A (p.Leu167=) single nucleotide variant not provided [RCV003887506] Chr11:803382 [GRCh38]
Chr11:803382 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.710-4G>A single nucleotide variant PIDD1-related disorder [RCV004551043] Chr11:802895 [GRCh38]
Chr11:802895 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.1954C>T (p.Arg652Trp) single nucleotide variant PIDD1-related disorder [RCV004550964] Chr11:800630 [GRCh38]
Chr11:800630 [GRCh37]
Chr11:11p15.5		 benign
NM_145886.4(PIDD1):c.2010G>A (p.Ala670=) single nucleotide variant PIDD1-related disorder [RCV004554564] Chr11:800574 [GRCh38]
Chr11:800574 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.2187T>C (p.Pro729=) single nucleotide variant PIDD1-related disorder [RCV004554566] Chr11:800218 [GRCh38]
Chr11:800218 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.2017G>C (p.Glu673Gln) single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV003990294] Chr11:800567 [GRCh38]
Chr11:800567 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.354C>T (p.Pro118=) single nucleotide variant PIDD1-related disorder [RCV004550984] Chr11:803529 [GRCh38]
Chr11:803529 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.2022C>T (p.Arg674=) single nucleotide variant PIDD1-related disorder [RCV004552826] Chr11:800562 [GRCh38]
Chr11:800562 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.2700G>A (p.Ser900=) single nucleotide variant PIDD1-related disorder [RCV004554496] Chr11:799340 [GRCh38]
Chr11:799340 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.482C>T (p.Ser161Phe) single nucleotide variant PIDD1-related disorder [RCV004554485] Chr11:803401 [GRCh38]
Chr11:803401 [GRCh37]
Chr11:11p15.5		 benign
NM_145886.4(PIDD1):c.2042-3_2042-2insGCCCTCCTTGCTCAGCCCACCCCTGTCCCCTGGATTGCCCTGACTGCGTGGATGCTGATAGGCCCTCCCTGTCCTGGAGGGGGAGCCTTACCGTCCTCCCCAT insertion PIDD1-related disorder [RCV004548929] Chr11:800453..800454 [GRCh38]
Chr11:800453..800454 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.1580G>T (p.Ser527Ile) single nucleotide variant PIDD1-related disorder [RCV004550971] Chr11:801268 [GRCh38]
Chr11:801268 [GRCh37]
Chr11:11p15.5		 benign
NM_145886.4(PIDD1):c.102C>T (p.Gly34=) single nucleotide variant PIDD1-related disorder [RCV004552706] Chr11:804287 [GRCh38]
Chr11:804287 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.2061G>A (p.Glu687=) single nucleotide variant PIDD1-related disorder [RCV004551029] Chr11:800432 [GRCh38]
Chr11:800432 [GRCh37]
Chr11:11p15.5		 benign
NM_145886.4(PIDD1):c.903C>T (p.Asp301=) single nucleotide variant PIDD1-related disorder [RCV004552719] Chr11:802698 [GRCh38]
Chr11:802698 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.2475-10C>T single nucleotide variant PIDD1-related disorder [RCV004552730] Chr11:799575 [GRCh38]
Chr11:799575 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.415A>T (p.Thr139Ser) single nucleotide variant PIDD1-related disorder [RCV004551001] Chr11:803468 [GRCh38]
Chr11:803468 [GRCh37]
Chr11:11p15.5		 benign
NM_145886.4(PIDD1):c.1646G>T (p.Arg549Leu) single nucleotide variant PIDD1-related disorder [RCV004548803] Chr11:801105 [GRCh38]
Chr11:801105 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.1426G>T (p.Val476Phe) single nucleotide variant Inborn genetic diseases [RCV004503530] Chr11:801501 [GRCh38]
Chr11:801501 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2057T>C (p.Val686Ala) single nucleotide variant Inborn genetic diseases [RCV004503538] Chr11:800436 [GRCh38]
Chr11:800436 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2115C>T (p.Tyr705=) single nucleotide variant Inborn genetic diseases [RCV004503539] Chr11:800378 [GRCh38]
Chr11:800378 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.355G>T (p.Ala119Ser) single nucleotide variant Inborn genetic diseases [RCV004503545] Chr11:803528 [GRCh38]
Chr11:803528 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.446G>A (p.Gly149Asp) single nucleotide variant Inborn genetic diseases [RCV004503547] Chr11:803437 [GRCh38]
Chr11:803437 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.46G>A (p.Ala16Thr) single nucleotide variant Inborn genetic diseases [RCV004503549] Chr11:804343 [GRCh38]
Chr11:804343 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.76G>A (p.Gly26Arg) single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV004555950] Chr11:804313 [GRCh38]
Chr11:804313 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.277C>T (p.Arg93Cys) single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV004594869] Chr11:804112 [GRCh38]
Chr11:804112 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1219C>T (p.Arg407Cys) single nucleotide variant Inborn genetic diseases [RCV004503529] Chr11:802048 [GRCh38]
Chr11:802048 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1577C>A (p.Pro526His) single nucleotide variant Inborn genetic diseases [RCV004503533] Chr11:801271 [GRCh38]
Chr11:801271 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1925C>T (p.Ala642Val) single nucleotide variant Inborn genetic diseases [RCV004503537] Chr11:800659 [GRCh38]
Chr11:800659 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2239G>A (p.Ala747Thr) single nucleotide variant Inborn genetic diseases [RCV004503541] Chr11:800166 [GRCh38]
Chr11:800166 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2300G>A (p.Arg767Gln) single nucleotide variant Inborn genetic diseases [RCV004503543] Chr11:799989 [GRCh38]
Chr11:799989 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.443G>A (p.Arg148Gln) single nucleotide variant Inborn genetic diseases [RCV004503546] Chr11:803440 [GRCh38]
Chr11:803440 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.467C>G (p.Ser156Cys) single nucleotide variant Inborn genetic diseases [RCV004503548] Chr11:803416 [GRCh38]
Chr11:803416 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.744C>G (p.His248Gln) single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV004555949] Chr11:802857 [GRCh38]
Chr11:802857 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2250G>A (p.Met750Ile) single nucleotide variant Inborn genetic diseases [RCV004503542] Chr11:800155 [GRCh38]
Chr11:800155 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.503G>A (p.Gly168Glu) single nucleotide variant Inborn genetic diseases [RCV004503551] Chr11:803380 [GRCh38]
Chr11:803380 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1069C>T (p.Arg357Cys) single nucleotide variant Inborn genetic diseases [RCV004503528] Chr11:802302 [GRCh38]
Chr11:802302 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.1445C>T (p.Pro482Leu) single nucleotide variant Inborn genetic diseases [RCV004503531] Chr11:801482 [GRCh38]
Chr11:801482 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1490G>A (p.Arg497His) single nucleotide variant Inborn genetic diseases [RCV004503532] Chr11:801358 [GRCh38]
Chr11:801358 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.1600G>A (p.Val534Met) single nucleotide variant Inborn genetic diseases [RCV004503534] Chr11:801248 [GRCh38]
Chr11:801248 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1652G>A (p.Arg551His) single nucleotide variant Inborn genetic diseases [RCV004503536] Chr11:801099 [GRCh38]
Chr11:801099 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2185C>T (p.Pro729Ser) single nucleotide variant Inborn genetic diseases [RCV004503540] Chr11:800220 [GRCh38]
Chr11:800220 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2444G>A (p.Arg815Gln) single nucleotide variant Inborn genetic diseases [RCV004503544] Chr11:799845 [GRCh38]
Chr11:799845 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.710C>T (p.Ala237Val) single nucleotide variant Inborn genetic diseases [RCV004503552] Chr11:802891 [GRCh38]
Chr11:802891 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(2906719_?)dup duplication Beckwith-Wiedemann syndrome [RCV004580105] Chr11:216698..2906719 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_532636)_(824862_?)dup duplication Costello syndrome [RCV004580178] Chr11:532636..824862 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1361C>T (p.Pro454Leu) single nucleotide variant Inborn genetic diseases [RCV004648139] Chr11:801566 [GRCh38]
Chr11:801566 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1043G>A (p.Gly348Glu) single nucleotide variant Inborn genetic diseases [RCV004648148] Chr11:802328 [GRCh38]
Chr11:802328 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2386G>A (p.Ala796Thr) single nucleotide variant Inborn genetic diseases [RCV004648149] Chr11:799903 [GRCh38]
Chr11:799903 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2021G>A (p.Arg674His) single nucleotide variant not provided [RCV004585249] Chr11:800563 [GRCh38]
Chr11:800563 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.167A>G (p.Gln56Arg) single nucleotide variant Inborn genetic diseases [RCV004657130] Chr11:804222 [GRCh38]
Chr11:804222 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.305G>A (p.Arg102His) single nucleotide variant Inborn genetic diseases [RCV004657131] Chr11:803578 [GRCh38]
Chr11:803578 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2282G>C (p.Arg761Pro) single nucleotide variant Inborn genetic diseases [RCV004657132] Chr11:800007 [GRCh38]
Chr11:800007 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.296-1G>A single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV004594868] Chr11:803588 [GRCh38]
Chr11:803588 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_145886.4(PIDD1):c.1793A>C (p.Asn598Thr) single nucleotide variant Inborn genetic diseases [RCV004648140] Chr11:800886 [GRCh38]
Chr11:800886 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.2145G>C (p.Gln715His) single nucleotide variant Inborn genetic diseases [RCV004648141] Chr11:800348 [GRCh38]
Chr11:800348 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.496G>A (p.Ala166Thr) single nucleotide variant Inborn genetic diseases [RCV004648142] Chr11:803387 [GRCh38]
Chr11:803387 [GRCh37]
Chr11:11p15.5		 likely benign
NM_145886.4(PIDD1):c.1873C>T (p.Arg625Trp) single nucleotide variant Inborn genetic diseases [RCV004648143] Chr11:800806 [GRCh38]
Chr11:800806 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1834C>T (p.Arg612Trp) single nucleotide variant Inborn genetic diseases [RCV004648145] Chr11:800845 [GRCh38]
Chr11:800845 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1220G>A (p.Arg407His) single nucleotide variant Inborn genetic diseases [RCV004648146] Chr11:802047 [GRCh38]
Chr11:802047 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1454C>G (p.Thr485Ser) single nucleotide variant Inborn genetic diseases [RCV004648147] Chr11:801473 [GRCh38]
Chr11:801473 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2140G>A (p.Ala714Thr) single nucleotide variant not provided [RCV004726123] Chr11:800353 [GRCh38]
Chr11:800353 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1388C>T (p.Pro463Leu) single nucleotide variant not provided [RCV004723844] Chr11:801539 [GRCh38]
Chr11:801539 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.133G>A (p.Gly45Arg) single nucleotide variant not provided [RCV004769816] Chr11:804256 [GRCh38]
Chr11:804256 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1302+1G>A single nucleotide variant Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV004776327] Chr11:801964 [GRCh38]
Chr11:801964 [GRCh37]		 likely pathogenic
NM_145886.4(PIDD1):c.2406C>G (p.Asp802Glu) single nucleotide variant not provided [RCV004770880] Chr11:799883 [GRCh38]
Chr11:799883 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.2416G>A (p.Val806Met) single nucleotide variant not provided [RCV004763884]   uncertain significance
NM_145886.4(PIDD1):c.1819del (p.Ala607fs) deletion Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV004766751] Chr11:800860 [GRCh38]
Chr11:800860 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_145886.4(PIDD1):c.2636A>G (p.Lys879Arg) single nucleotide variant not provided [RCV004726174] Chr11:799404 [GRCh38]
Chr11:799404 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.1444C>G (p.Pro482Ala) single nucleotide variant not specified [RCV003330450] Chr11:801483 [GRCh38]
Chr11:801483 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_145886.4(PIDD1):c.202_203del (p.Arg68fs) deletion Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly [RCV003331880] Chr11:804186..804187 [GRCh38]
Chr11:804186..804187 [GRCh37]
Chr11:11p15.5		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6122
Count of miRNA genes:1026
Interacting mature miRNAs:1282
Transcripts:ENST00000347755, ENST00000411829, ENST00000524486, ENST00000525028, ENST00000527357, ENST00000527812, ENST00000528122, ENST00000530911, ENST00000531286, ENST00000534525, ENST00000534649
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406926226GWAS575202_Hdiastolic blood pressure, systolic blood pressure QTL GWAS575202 (human)0.0000004diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)11800630800631Human
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human
407152705GWAS801681_Hbreast carcinoma QTL GWAS801681 (human)3e-12breast carcinoma11803017803018Human
407264605GWAS913581_Haortic stenosis, aortic valve calcification QTL GWAS913581 (human)2e-09aortic stenosis, aortic valve calcification11805953805954Human
407064303GWAS713279_Hkeratoconus QTL GWAS713279 (human)1e-26keratoconus11800486800487Human
406924653GWAS573629_Hdiastolic blood pressure, systolic blood pressure QTL GWAS573629 (human)1e-09diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)11800630800631Human
406896956GWAS545932_Hbreast carcinoma QTL GWAS545932 (human)1e-12breast carcinoma11803017803018Human
407056717GWAS705693_HBMI-adjusted waist-hip ratio QTL GWAS705693 (human)8e-10BMI-adjusted waist-hip ratio11801644801645Human

Markers in Region
SGC30389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711799,202 - 799,302UniSTSGRCh37
Build 3611789,202 - 789,302RGDNCBI36
Celera11865,780 - 865,880RGD
Cytogenetic Map11p15.5UniSTS
HuRef11615,968 - 616,068UniSTS
GeneMap99-GB4 RH Map116.38UniSTS
Whitehead-RH Map1121.0UniSTS
RH123677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711803,826 - 804,097UniSTSGRCh37
Build 3611793,826 - 794,097RGDNCBI36
Celera11870,405 - 870,676RGD
Cytogenetic Map11p15.5UniSTS
HuRef11620,594 - 620,865UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2249 4971 1726 2351 5 623 1951 465 2269 7300 6466 53 3733 1 852 1742 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_145886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_930877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF229178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF274972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF465246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG723687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ059356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ214414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ924290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX349115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN427944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN427946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000347755   ⟹   ENSP00000337797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11799,184 - 805,231 (-)Ensembl
Ensembl Acc Id: ENST00000411829   ⟹   ENSP00000416801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11799,184 - 804,469 (-)Ensembl
Ensembl Acc Id: ENST00000524486   ⟹   ENSP00000436146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11799,180 - 805,103 (-)Ensembl
Ensembl Acc Id: ENST00000525028   ⟹   ENSP00000436342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11799,179 - 804,675 (-)Ensembl
Ensembl Acc Id: ENST00000527357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11799,185 - 805,230 (-)Ensembl
Ensembl Acc Id: ENST00000527812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11799,326 - 802,086 (-)Ensembl
Ensembl Acc Id: ENST00000528122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11802,323 - 803,149 (-)Ensembl
Ensembl Acc Id: ENST00000530911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11805,777 - 809,753 (-)Ensembl
Ensembl Acc Id: ENST00000531286   ⟹   ENSP00000435008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11799,185 - 802,750 (-)Ensembl
Ensembl Acc Id: ENST00000534525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11799,185 - 809,499 (-)Ensembl
Ensembl Acc Id: ENST00000534649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11799,195 - 809,460 (-)Ensembl
RefSeq Acc Id: NM_145886   ⟹   NP_665893
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 805,231 (-)NCBI
GRCh3711799,179 - 809,872 (-)NCBI
Build 3611789,179 - 795,245 (-)NCBI Archive
HuRef11615,945 - 621,235 (-)ENTREZGENE
CHM1_111798,086 - 804,157 (-)NCBI
T2T-CHM13v2.011850,616 - 856,664 (-)NCBI
Sequence:
RefSeq Acc Id: NM_145887   ⟹   NP_665894
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 805,231 (-)NCBI
GRCh3711799,179 - 809,872 (-)NCBI
Build 3611789,179 - 794,464 (-)NCBI Archive
HuRef11615,945 - 621,235 (-)ENTREZGENE
CHM1_111798,086 - 804,157 (-)NCBI
T2T-CHM13v2.011850,616 - 856,664 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005253005   ⟹   XP_005253062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 809,501 (-)NCBI
GRCh3711799,179 - 809,872 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005253006   ⟹   XP_005253063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 805,731 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520209   ⟹   XP_011518511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 809,501 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520210   ⟹   XP_011518512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 809,501 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520212   ⟹   XP_011518514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 804,182 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520213   ⟹   XP_011518515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 803,286 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047427238   ⟹   XP_047283194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 809,501 (-)NCBI
RefSeq Acc Id: XM_047427239   ⟹   XP_047283195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 809,501 (-)NCBI
RefSeq Acc Id: XM_047427240   ⟹   XP_047283196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 809,501 (-)NCBI
RefSeq Acc Id: XM_047427241   ⟹   XP_047283197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 804,182 (-)NCBI
RefSeq Acc Id: XM_047427242   ⟹   XP_047283198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 804,182 (-)NCBI
RefSeq Acc Id: XM_047427243   ⟹   XP_047283199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 804,182 (-)NCBI
RefSeq Acc Id: XM_047427244   ⟹   XP_047283200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811800,564 - 809,501 (-)NCBI
RefSeq Acc Id: XM_047427245   ⟹   XP_047283201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 803,266 (-)NCBI
RefSeq Acc Id: XM_047427246   ⟹   XP_047283202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811799,184 - 803,286 (-)NCBI
RefSeq Acc Id: XM_054369308   ⟹   XP_054225283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 855,896 (-)NCBI
RefSeq Acc Id: XM_054369309   ⟹   XP_054225284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 861,221 (-)NCBI
RefSeq Acc Id: XM_054369310   ⟹   XP_054225285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 861,222 (-)NCBI
RefSeq Acc Id: XM_054369311   ⟹   XP_054225286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 860,825 (-)NCBI
RefSeq Acc Id: XM_054369312   ⟹   XP_054225287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 861,221 (-)NCBI
RefSeq Acc Id: XM_054369313   ⟹   XP_054225288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011851,247 - 855,896 (-)NCBI
RefSeq Acc Id: XM_054369314   ⟹   XP_054225289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 857,164 (-)NCBI
RefSeq Acc Id: XM_054369315   ⟹   XP_054225290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 855,615 (-)NCBI
RefSeq Acc Id: XM_054369316   ⟹   XP_054225291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 855,615 (-)NCBI
RefSeq Acc Id: XM_054369317   ⟹   XP_054225292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 855,615 (-)NCBI
RefSeq Acc Id: XM_054369318   ⟹   XP_054225293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 855,615 (-)NCBI
RefSeq Acc Id: XM_054369319   ⟹   XP_054225294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011851,996 - 855,896 (-)NCBI
RefSeq Acc Id: XM_054369320   ⟹   XP_054225295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 854,699 (-)NCBI
RefSeq Acc Id: XM_054369321   ⟹   XP_054225296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 854,719 (-)NCBI
RefSeq Acc Id: XM_054369322   ⟹   XP_054225297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011850,616 - 854,719 (-)NCBI
Protein Sequences
Protein RefSeqs NP_665893 (Get FASTA)   NCBI Sequence Viewer  
  NP_665894 (Get FASTA)   NCBI Sequence Viewer  
  XP_005253062 (Get FASTA)   NCBI Sequence Viewer  
  XP_005253063 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518511 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518512 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518514 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518515 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283194 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283195 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283196 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283197 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283198 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283199 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283200 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283201 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283202 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225284 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225288 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225289 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225290 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225291 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225292 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225293 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225294 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225295 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225296 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225297 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF69491 (Get FASTA)   NCBI Sequence Viewer  
  AAG13461 (Get FASTA)   NCBI Sequence Viewer  
  AAH14904 (Get FASTA)   NCBI Sequence Viewer  
  AAP97716 (Get FASTA)   NCBI Sequence Viewer  
  BAC11272 (Get FASTA)   NCBI Sequence Viewer  
  BAD92069 (Get FASTA)   NCBI Sequence Viewer  
  BAD92186 (Get FASTA)   NCBI Sequence Viewer  
  BAD92766 (Get FASTA)   NCBI Sequence Viewer  
  CAD38708 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43600 (Get FASTA)   NCBI Sequence Viewer  
  EAX02390 (Get FASTA)   NCBI Sequence Viewer  
  EAX02391 (Get FASTA)   NCBI Sequence Viewer  
  EAX02392 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000337797
  ENSP00000337797.5
  ENSP00000416801
  ENSP00000416801.2
  ENSP00000435008.1
  ENSP00000436146.1
  ENSP00000436342.1
  ENSP00000508317.1
GenBank Protein Q9HB75 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_665894   ⟸   NM_145887
- Peptide Label: isoform 3
- UniProtKB: Q9HB75 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_665893   ⟸   NM_145886
- Peptide Label: isoform 1
- UniProtKB: Q96C25 (UniProtKB/Swiss-Prot),   Q8NDL2 (UniProtKB/Swiss-Prot),   Q8NC89 (UniProtKB/Swiss-Prot),   Q7Z4P8 (UniProtKB/Swiss-Prot),   Q59HC7 (UniProtKB/Swiss-Prot),   Q59H10 (UniProtKB/Swiss-Prot),   Q59FD1 (UniProtKB/Swiss-Prot),   Q9NRE6 (UniProtKB/Swiss-Prot),   Q9HB75 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005253063   ⟸   XM_005253006
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005253062   ⟸   XM_005253005
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011518514   ⟸   XM_011520212
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011518512   ⟸   XM_011520210
- Peptide Label: isoform X4
- UniProtKB: Q96C25 (UniProtKB/Swiss-Prot),   Q8NDL2 (UniProtKB/Swiss-Prot),   Q8NC89 (UniProtKB/Swiss-Prot),   Q7Z4P8 (UniProtKB/Swiss-Prot),   Q59HC7 (UniProtKB/Swiss-Prot),   Q59H10 (UniProtKB/Swiss-Prot),   Q59FD1 (UniProtKB/Swiss-Prot),   Q9NRE6 (UniProtKB/Swiss-Prot),   Q9HB75 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518511   ⟸   XM_011520209
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011518515   ⟸   XM_011520213
- Peptide Label: isoform X9
- Sequence:
Ensembl Acc Id: ENSP00000416801   ⟸   ENST00000411829
Ensembl Acc Id: ENSP00000337797   ⟸   ENST00000347755
Ensembl Acc Id: ENSP00000435008   ⟸   ENST00000531286
Ensembl Acc Id: ENSP00000436146   ⟸   ENST00000524486
Ensembl Acc Id: ENSP00000436342   ⟸   ENST00000525028
RefSeq Acc Id: XP_047283196   ⟸   XM_047427240
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047283195   ⟸   XM_047427239
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047283194   ⟸   XM_047427238
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047283199   ⟸   XM_047427243
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047283198   ⟸   XM_047427242
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047283197   ⟸   XM_047427241
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047283202   ⟸   XM_047427246
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047283201   ⟸   XM_047427245
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047283200   ⟸   XM_047427244
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054225285   ⟸   XM_054369310
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054225287   ⟸   XM_054369312
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054225284   ⟸   XM_054369309
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054225286   ⟸   XM_054369311
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054225289   ⟸   XM_054369314
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054225283   ⟸   XM_054369308
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054225293   ⟸   XM_054369318
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054225292   ⟸   XM_054369317
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054225291   ⟸   XM_054369316
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054225290   ⟸   XM_054369315
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225297   ⟸   XM_054369322
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054225296   ⟸   XM_054369321
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054225295   ⟸   XM_054369320
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054225288   ⟸   XM_054369313
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054225294   ⟸   XM_054369319
- Peptide Label: isoform X16
Protein Domains
Death   ZU5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HB75-F1-model_v2 AlphaFold Q9HB75 1-910 view protein structure

Promoters
RGD ID:6789079
Promoter ID:HG_KWN:11867
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018494,   NM_145886,   NM_145887,   UC001LRL.1,   UC001LRM.1,   UC001LRP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611794,226 - 795,482 (-)MPROMDB
RGD ID:7219219
Promoter ID:EPDNEW_H15355
Type:initiation region
Name:PIDD1_1
Description:p53-induced death domain protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15357  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811805,231 - 805,291EPDNEW
RGD ID:7219223
Promoter ID:EPDNEW_H15357
Type:initiation region
Name:PIDD1_2
Description:p53-induced death domain protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15355  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811809,801 - 809,861EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16491 AgrOrtholog
COSMIC PIDD1 COSMIC
Ensembl Genes ENSG00000177595 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000347755 ENTREZGENE
  ENST00000347755.10 UniProtKB/Swiss-Prot
  ENST00000411829 ENTREZGENE
  ENST00000411829.6 UniProtKB/Swiss-Prot
  ENST00000524486.5 UniProtKB/TrEMBL
  ENST00000525028.6 UniProtKB/TrEMBL
  ENST00000531286.5 UniProtKB/TrEMBL
  ENST00000534649.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot
  2.60.220.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000177595 GTEx
HGNC ID HGNC:16491 ENTREZGENE
Human Proteome Map PIDD1 Human Proteome Map
InterPro DEATH-like_dom_sf UniProtKB/Swiss-Prot
  Death_domain UniProtKB/Swiss-Prot
  Leu-rich_rpt UniProtKB/Swiss-Prot
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
  LRR_domain-containing UniProtKB/Swiss-Prot
  Peptidase_S68_pidd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZU5_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55367 UniProtKB/Swiss-Prot
NCBI Gene 55367 ENTREZGENE
OMIM 605247 OMIM
PANTHER NON-SPECIFIC SERINE/THREONINE PROTEIN KINASE-RELATED UniProtKB/Swiss-Prot
  PTHR48051 UniProtKB/Swiss-Prot
Pfam Death UniProtKB/Swiss-Prot
  LRR_8 UniProtKB/Swiss-Prot
  Peptidase_S68 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZU5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30445 PharmGKB
PROSITE DEATH_DOMAIN UniProtKB/Swiss-Prot
  LRR UniProtKB/Swiss-Prot
  ZU5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEATH UniProtKB/Swiss-Prot
  LRR_BAC UniProtKB/Swiss-Prot
  LRR_TYP UniProtKB/Swiss-Prot
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot
  SSF47986 UniProtKB/Swiss-Prot
UniProt E9PPT6_HUMAN UniProtKB/TrEMBL
  H0YE55_HUMAN UniProtKB/TrEMBL
  PIDD1_HUMAN UniProtKB/Swiss-Prot
  Q59FD1 ENTREZGENE
  Q59H10 ENTREZGENE
  Q59HC7 ENTREZGENE
  Q7Z4P8 ENTREZGENE
  Q8NC89 ENTREZGENE
  Q8NDL2 ENTREZGENE
  Q96C25 ENTREZGENE
  Q9HB75 ENTREZGENE
  Q9NRE6 ENTREZGENE
UniProt Secondary Q59FD1 UniProtKB/Swiss-Prot
  Q59H10 UniProtKB/Swiss-Prot
  Q59HC7 UniProtKB/Swiss-Prot
  Q7Z4P8 UniProtKB/Swiss-Prot
  Q8NC89 UniProtKB/Swiss-Prot
  Q8NDL2 UniProtKB/Swiss-Prot
  Q96C25 UniProtKB/Swiss-Prot
  Q9NRE6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-05-07 PIDD1  p53-induced death domain protein 1  PIDD  p53-induced death domain protein  Symbol and/or name change 5135510 APPROVED
2011-07-27 PIDD  p53-induced death domain protein  LRDD  leucine-rich repeats and death domain containing  Symbol and/or name change 5135510 APPROVED