PDCD10 (programmed cell death 10) - Rat Genome Database

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Gene: PDCD10 (programmed cell death 10) Homo sapiens
Analyze
Symbol: PDCD10
Name: programmed cell death 10
RGD ID: 1351056
HGNC Page HGNC:8761
Description: Enables protein homodimerization activity and protein kinase binding activity. Involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of signal transduction; and regulation of cell migration. Located in cytosol. Colocalizes with Golgi apparatus. Implicated in cerebral cavernous malformation 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: apoptosis-related protein 15; CCM3; cerebral cavernous malformation 3; cerebral cavernous malformations 3 protein; MGC1212; MGC24477; programmed cell death protein 10; TF-1 cell apoptosis-related protein 15; TFAR15
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100128686  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383167,683,298 - 167,734,892 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3167,683,298 - 167,734,939 (-)EnsemblGRCh38hg38GRCh38
GRCh373167,401,086 - 167,452,680 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363168,884,388 - 168,935,345 (-)NCBINCBI36Build 36hg18NCBI36
Build 343168,884,398 - 168,935,332NCBI
Celera3165,800,144 - 165,851,087 (-)NCBICelera
Cytogenetic Map3q26.1NCBI
HuRef3164,771,770 - 164,822,713 (-)NCBIHuRef
CHM1_13167,364,579 - 167,415,523 (-)NCBICHM1_1
T2T-CHM13v2.03170,467,195 - 170,518,819 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9811928   PMID:12477932   PMID:15489334   PMID:15543491   PMID:16189514   PMID:16239636   PMID:16284570   PMID:16329096   PMID:16380626   PMID:16730941   PMID:16769843   PMID:17212813  
PMID:17353931   PMID:17360971   PMID:17657516   PMID:18035376   PMID:18300272   PMID:18782753   PMID:19056867   PMID:19088123   PMID:19088124   PMID:19199464   PMID:19246713   PMID:19370760  
PMID:19423540   PMID:19506228   PMID:19688696   PMID:19738201   PMID:20301470   PMID:20332113   PMID:20360068   PMID:20406964   PMID:20419355   PMID:20438785   PMID:20458337   PMID:20489202  
PMID:20592472   PMID:20623299   PMID:20668527   PMID:20677014   PMID:20682288   PMID:20854465   PMID:20862502   PMID:21029238   PMID:21041308   PMID:21516116   PMID:21561863   PMID:21632544  
PMID:21873635   PMID:22291017   PMID:22623428   PMID:22652780   PMID:22750858   PMID:22863883   PMID:23266514   PMID:23376485   PMID:23383273   PMID:23388056   PMID:23455922   PMID:23485406  
PMID:23533145   PMID:23541896   PMID:23665169   PMID:24007869   PMID:24058906   PMID:24366813   PMID:24466005   PMID:25122144   PMID:25354366   PMID:25416956   PMID:25451273   PMID:25550858  
PMID:25655101   PMID:25737280   PMID:25825518   PMID:25872572   PMID:26115622   PMID:26186194   PMID:26246098   PMID:26254477   PMID:26344197   PMID:26356566   PMID:26385474   PMID:26490252  
PMID:26496610   PMID:26771762   PMID:27132035   PMID:27548575   PMID:27737651   PMID:27807006   PMID:28330616   PMID:28371279   PMID:28514442   PMID:28734041   PMID:28870584   PMID:29482058  
PMID:29507755   PMID:29749609   PMID:30161288   PMID:30272373   PMID:30392087   PMID:31470122   PMID:31515488   PMID:31594818   PMID:31741433   PMID:31776290   PMID:32129710   PMID:32186778  
PMID:32203420   PMID:32296183   PMID:32344865   PMID:32407167   PMID:32450789   PMID:32483426   PMID:32640226   PMID:32707033   PMID:33571521   PMID:33604894   PMID:33961781   PMID:34108959  
PMID:34226698   PMID:34521817   PMID:35271311   PMID:35831314   PMID:35848121   PMID:35944360   PMID:35963638   PMID:36215168  


Genomics

Comparative Map Data
PDCD10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383167,683,298 - 167,734,892 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3167,683,298 - 167,734,939 (-)EnsemblGRCh38hg38GRCh38
GRCh373167,401,086 - 167,452,680 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363168,884,388 - 168,935,345 (-)NCBINCBI36Build 36hg18NCBI36
Build 343168,884,398 - 168,935,332NCBI
Celera3165,800,144 - 165,851,087 (-)NCBICelera
Cytogenetic Map3q26.1NCBI
HuRef3164,771,770 - 164,822,713 (-)NCBIHuRef
CHM1_13167,364,579 - 167,415,523 (-)NCBICHM1_1
T2T-CHM13v2.03170,467,195 - 170,518,819 (-)NCBIT2T-CHM13v2.0
Pdcd10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39375,423,797 - 75,464,159 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl375,423,797 - 75,464,163 (-)EnsemblGRCm39 Ensembl
GRCm38375,516,490 - 75,556,852 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl375,516,490 - 75,556,856 (-)EnsemblGRCm38mm10GRCm38
MGSCv37375,320,412 - 75,360,721 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36375,602,416 - 75,642,726 (-)NCBIMGSCv36mm8
Celera375,581,629 - 75,621,940 (-)NCBICelera
Cytogenetic Map3E3NCBI
Pdcd10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22160,303,465 - 160,346,086 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2160,303,449 - 160,346,018 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2167,476,398 - 167,518,511 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02165,480,684 - 165,522,792 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02160,113,470 - 160,155,584 (-)NCBIRnor_WKY
Rnor_6.02173,966,701 - 174,012,730 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2173,967,080 - 174,012,676 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02193,304,862 - 193,348,032 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42166,402,652 - 166,445,015 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12166,352,757 - 166,395,121 (-)NCBI
Celera2154,499,050 - 154,540,946 (-)NCBICelera
Cytogenetic Map2q32NCBI
Pdcd10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544816,864,031 - 16,887,626 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544816,866,577 - 16,887,215 (-)NCBIChiLan1.0ChiLan1.0
PDCD10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan13165,588,664 - 165,639,889 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03164,703,909 - 164,755,085 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13172,760,923 - 172,811,900 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3172,760,923 - 172,811,430 (-)Ensemblpanpan1.1panPan2
PDCD10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13432,512,109 - 32,553,524 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3432,512,112 - 32,553,445 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3441,592,572 - 41,634,550 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03432,590,535 - 32,632,534 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3432,584,275 - 32,632,464 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13432,535,691 - 32,577,676 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03432,496,175 - 32,538,163 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03432,767,820 - 32,809,818 (-)NCBIUU_Cfam_GSD_1.0
Pdcd10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560298,930,028 - 98,971,364 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365934,651,114 - 4,692,534 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365934,650,624 - 4,693,387 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDCD10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13106,517,432 - 106,558,895 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113106,517,408 - 106,558,959 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213115,080,081 - 115,120,768 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PDCD10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11521,697,366 - 21,748,760 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1521,706,675 - 21,749,470 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606330,541,167 - 30,592,646 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pdcd10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473045,654,022 - 45,678,745 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473045,653,470 - 45,698,461 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PDCD10
95 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007217.4(PDCD10):c.301C>T (p.Gln101Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV000531663] Chr3:167695690 [GRCh38]
Chr3:167413478 [GRCh37]
Chr3:3q26.1		 pathogenic
PDCD10, 586C-T single nucleotide variant Cerebral cavernous malformations 3 [RCV000001941] Chr3:3q26.1 pathogenic
NM_007217.4(PDCD10):c.385C>T (p.Gln129Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV000001942] Chr3:167695606 [GRCh38]
Chr3:167413394 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_145860.2:c.103C>T single nucleotide variant Cerebral cavernous malformations 3 [RCV000001943] Chr3:3q26.1 pathogenic
NM_007217.4(PDCD10):c.97_150del deletion Cerebral cavernous malformation 3 [RCV000001944] Chr3:3q26.1 pathogenic
PDCD10, 4-BP DEL deletion Cerebral cavernous malformation 3 [RCV000001945] Chr3:3q26.1 pathogenic
NM_007217.4(PDCD10):c.475-1G>A single nucleotide variant Cerebral cavernous malformation 3 [RCV000001946] Chr3:167687317 [GRCh38]
Chr3:167405105 [GRCh37]
Chr3:3q26.1		 pathogenic
PDCD10, DEL deletion Cerebral cavernous malformation 3 [RCV000001947] Chr3:3q26.1 pathogenic
NM_007217.4(PDCD10):c.558-2A>C single nucleotide variant Cerebral cavernous malformation 3 [RCV000549105] Chr3:167684391 [GRCh38]
Chr3:167402179 [GRCh37]
Chr3:3q26.1		 pathogenic|uncertain significance
GRCh38/hg38 3q26.1-26.2(chr3:166681145-168482463)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051561]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051561]|See cases [RCV000051561] Chr3:166681145..168482463 [GRCh38]
Chr3:166398933..168200251 [GRCh37]
Chr3:167881627..169682945 [NCBI36]
Chr3:3q26.1-26.2		 uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3 copy number gain See cases [RCV000136642] Chr3:166831737..170631211 [GRCh38]
Chr3:166549525..170349000 [GRCh37]
Chr3:168032219..171831694 [NCBI36]
Chr3:3q26.1-26.2		 uncertain significance
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 copy number gain See cases [RCV000139359] Chr3:165158611..180130168 [GRCh38]
Chr3:164876399..179847956 [GRCh37]
Chr3:166359093..181330650 [NCBI36]
Chr3:3q26.1-26.33		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q26.1(chr3:167618839-167688627)x1 copy number loss See cases [RCV000139013] Chr3:167618839..167688627 [GRCh38]
Chr3:167336627..167406415 [GRCh37]
Chr3:168819321..168889109 [NCBI36]
Chr3:3q26.1		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28		 likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
NM_007217.4(PDCD10):c.-116-9T>C single nucleotide variant Cerebral cavernous malformation 3 [RCV000261518]|not specified [RCV000507109] Chr3:167720282 [GRCh38]
Chr3:167438070 [GRCh37]
Chr3:3q26.1		 benign|likely benign
NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV000544337]|not provided [RCV000578740] Chr3:167695669 [GRCh38]
Chr3:167413457 [GRCh37]
Chr3:3q26.1		 pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
NM_007217.4(PDCD10):c.214G>C (p.Val72Leu) single nucleotide variant Cerebral cavernous malformation 3 [RCV000878450]|Inborn genetic diseases [RCV002429306] Chr3:167697063 [GRCh38]
Chr3:167414851 [GRCh37]
Chr3:3q26.1		 benign|likely benign
NM_007217.4(PDCD10):c.*285G>T single nucleotide variant Cerebral cavernous malformation 3 [RCV000383854] Chr3:167684023 [GRCh38]
Chr3:167401811 [GRCh37]
Chr3:3q26.1		 likely benign|uncertain significance
NM_007217.4(PDCD10):c.*339G>A single nucleotide variant Cerebral cavernous malformation 3 [RCV000347997] Chr3:167683969 [GRCh38]
Chr3:167401757 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.574G>A (p.Val192Ile) single nucleotide variant Cerebral cavernous malformation 3 [RCV001406380]|Cerebral cavernous malformation [RCV000396088] Chr3:167684373 [GRCh38]
Chr3:167402161 [GRCh37]
Chr3:3q26.1		 likely benign|uncertain significance
NM_007217.4(PDCD10):c.467dup (p.Asn156fs) duplication not provided [RCV000300439] Chr3:167687621..167687622 [GRCh38]
Chr3:167405409..167405410 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.*87A>T single nucleotide variant Cerebral cavernous malformation 3 [RCV000304562] Chr3:167684221 [GRCh38]
Chr3:167402009 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.*141C>T single nucleotide variant Cerebral cavernous malformation 3 [RCV000404800] Chr3:167684167 [GRCh38]
Chr3:167401955 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_001122752.2(SERPINI1):c.-19+92G>A single nucleotide variant Cerebral cavernous malformation 3 [RCV000406577]|Familial encephalopathy with neuroserpin inclusion bodies [RCV000386276] Chr3:167735915 [GRCh38]
Chr3:167453703 [GRCh37]
Chr3:3q26.1		 benign|likely benign
NM_007217.4(PDCD10):c.-432C>T single nucleotide variant Cerebral cavernous malformation 3 [RCV000297970] Chr3:167734840 [GRCh38]
Chr3:167452628 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_001122752.2(SERPINI1):c.-19+117A>G single nucleotide variant Cerebral cavernous malformation [RCV000311644]|Familial encephalopathy with neuroserpin inclusion bodies [RCV000271105] Chr3:167735940 [GRCh38]
Chr3:167453728 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.*63T>C single nucleotide variant Cerebral cavernous malformation 3 [RCV000340698] Chr3:167684245 [GRCh38]
Chr3:167402033 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.151-11C>T single nucleotide variant Cerebral cavernous malformation 3 [RCV000356345] Chr3:167697137 [GRCh38]
Chr3:167414925 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.-438G>C single nucleotide variant Cerebral cavernous malformation [RCV000280104]|Familial encephalopathy with neuroserpin inclusion bodies [RCV000337520] Chr3:167734846 [GRCh38]
Chr3:167452634 [GRCh37]
Chr3:3q26.1		 benign|likely benign|uncertain significance
NM_007217.4(PDCD10):c.*221T>C single nucleotide variant Cerebral cavernous malformation 3 [RCV000289540] Chr3:167684087 [GRCh38]
Chr3:167401875 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.*174C>T single nucleotide variant Cerebral cavernous malformation 3 [RCV000344560] Chr3:167684134 [GRCh38]
Chr3:167401922 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.-116-2132T>G single nucleotide variant Cerebral cavernous malformation 3 [RCV000592507] Chr3:167722405 [GRCh38]
Chr3:167440193 [GRCh37]
Chr3:3q26.1		 not provided
NM_007217.4(PDCD10):c.96+865A>C single nucleotide variant Cerebral cavernous malformation 3 [RCV000593512] Chr3:167719197 [GRCh38]
Chr3:167436985 [GRCh37]
Chr3:3q26.1		 not provided
NM_007217.4(PDCD10):c.96+6786_96+6787del deletion Cerebral cavernous malformation 3 [RCV000593707] Chr3:167713275..167713276 [GRCh38]
Chr3:167431063..167431064 [GRCh37]
Chr3:3q26.1		 not provided
NM_007217.4(PDCD10):c.-117+1010C>T single nucleotide variant Cerebral cavernous malformation 3 [RCV000593756] Chr3:167733204 [GRCh38]
Chr3:167450992 [GRCh37]
Chr3:3q26.1		 not provided
NM_007217.4(PDCD10):c.160_163del (p.Glu54fs) deletion Cerebral cavernous malformation 3 [RCV000560286] Chr3:167697114..167697117 [GRCh38]
Chr3:167414902..167414905 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.474+5G>A single nucleotide variant Cerebral arteriovenous malformation [RCV000626904]|Cerebral cavernous malformation 3 [RCV000560557]|not provided [RCV000721806] Chr3:167687610 [GRCh38]
Chr3:167405398 [GRCh37]
Chr3:3q26.1		 pathogenic|likely pathogenic
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV000813410]|Cerebral cavernous malformation [RCV001727711]|not provided [RCV000414133] Chr3:167704889 [GRCh38]
Chr3:167422677 [GRCh37]
Chr3:3q26.1		 pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2		 pathogenic
GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596)x3 copy number gain See cases [RCV000448072] Chr3:163595552..168022596 [GRCh37]
Chr3:3q26.1-26.2		 uncertain significance
NM_007217.4(PDCD10):c.268+1G>A single nucleotide variant not provided [RCV000578543] Chr3:167697008 [GRCh38]
Chr3:167414796 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.150+1G>A single nucleotide variant not provided [RCV000517807] Chr3:167704841 [GRCh38]
Chr3:167422629 [GRCh37]
Chr3:3q26.1		 pathogenic|likely pathogenic
NM_007217.4(PDCD10):c.151-2025A>G single nucleotide variant Cerebral cavernous malformation 3 [RCV000595079] Chr3:167699151 [GRCh38]
Chr3:167416939 [GRCh37]
Chr3:3q26.1		 not provided
NM_007217.4(PDCD10):c.96+5295dup duplication Cerebral cavernous malformation 3 [RCV000597058] Chr3:167714766..167714767 [GRCh38]
Chr3:167432554..167432555 [GRCh37]
Chr3:3q26.1		 not provided
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_007217.4(PDCD10):c.370dup (p.Arg124fs) duplication not provided [RCV000627561] Chr3:167695620..167695621 [GRCh38]
Chr3:167413408..167413409 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.557+4_557+7del microsatellite Cerebral cavernous malformation 3 [RCV000536749] Chr3:167687227..167687230 [GRCh38]
Chr3:167405015..167405018 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.510C>G (p.Tyr170Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV000644583]|not provided [RCV000721809] Chr3:167687281 [GRCh38]
Chr3:167405069 [GRCh37]
Chr3:3q26.1		 pathogenic|likely pathogenic
NM_007217.4(PDCD10):c.96+4389A>G single nucleotide variant Cerebral cavernous malformation 3 [RCV000596336] Chr3:167715673 [GRCh38]
Chr3:167433461 [GRCh37]
Chr3:3q26.1		 not provided
NM_007217.4(PDCD10):c.150+2693T>C single nucleotide variant Cerebral cavernous malformation 3 [RCV000597386] Chr3:167702149 [GRCh38]
Chr3:167419937 [GRCh37]
Chr3:3q26.1		 not provided
NM_007217.4(PDCD10):c.96+4988C>G single nucleotide variant Cerebral cavernous malformation 3 [RCV000595363] Chr3:167715074 [GRCh38]
Chr3:167432862 [GRCh37]
Chr3:3q26.1		 not provided
NM_007217.4(PDCD10):c.-284C>T single nucleotide variant not provided [RCV000721793] Chr3:167734692 [GRCh38]
Chr3:167452480 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.395+1G>A single nucleotide variant not provided [RCV000721802] Chr3:167695595 [GRCh38]
Chr3:167413383 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.396-2A>T single nucleotide variant not provided [RCV000721804] Chr3:167687695 [GRCh38]
Chr3:167405483 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.535A>G (p.Lys179Glu) single nucleotide variant not provided [RCV000721810] Chr3:167687256 [GRCh38]
Chr3:167405044 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.268+1del deletion not provided [RCV000721798] Chr3:167697008 [GRCh38]
Chr3:167414796 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.269-1G>C single nucleotide variant not provided [RCV000721799] Chr3:167695723 [GRCh38]
Chr3:167413511 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_145859.1(PDCD10):c.269_270delAG microsatellite not provided [RCV000721800] Chr3:167695721..167695722 [GRCh38]
Chr3:167413509..167413510 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.283C>T (p.Arg95Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV003141726]|not provided [RCV000721801] Chr3:167695708 [GRCh38]
Chr3:167413496 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.496G>T (p.Glu166Ter) single nucleotide variant not provided [RCV000721807] Chr3:167687295 [GRCh38]
Chr3:167405083 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV001236134]|not provided [RCV000721812] Chr3:167684361 [GRCh38]
Chr3:167402149 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.634G>T (p.Ala212Ser) single nucleotide variant not provided [RCV000721813] Chr3:167684313 [GRCh38]
Chr3:167402101 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.575dup (p.Ser193fs) duplication Cerebral cavernous malformation 3 [RCV000681477]|Cerebral cavernous malformation [RCV001727795] Chr3:167684371..167684372 [GRCh38]
Chr3:167402159..167402160 [GRCh37]
Chr3:3q26.1		 pathogenic|likely pathogenic
NM_007217.4(PDCD10):c.474+4C>A single nucleotide variant Cerebral cavernous malformation 3 [RCV000704062] Chr3:167687611 [GRCh38]
Chr3:167405399 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.183CAT[1] (p.Ile63del) microsatellite not provided [RCV000721797] Chr3:167697089..167697091 [GRCh38]
Chr3:167414877..167414879 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.117del (p.Ala40fs) deletion not provided [RCV000721795] Chr3:167704875 [GRCh38]
Chr3:167422663 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.558-2A>T single nucleotide variant not provided [RCV000721811] Chr3:167684391 [GRCh38]
Chr3:167402179 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.333dup (p.Gln112fs) duplication Cerebral cavernous malformation 3 [RCV000688068] Chr3:167695657..167695658 [GRCh38]
Chr3:167413445..167413446 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.584dup (p.Asn195fs) duplication Cerebral cavernous malformation 3 [RCV000696694] Chr3:167684362..167684363 [GRCh38]
Chr3:167402150..167402151 [GRCh37]
Chr3:3q26.1		 pathogenic|likely pathogenic|uncertain significance
NM_007217.4(PDCD10):c.150+1G>T single nucleotide variant not provided [RCV000721796] Chr3:167704841 [GRCh38]
Chr3:167422629 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.395+2T>G single nucleotide variant not provided [RCV000721803] Chr3:167695594 [GRCh38]
Chr3:167413382 [GRCh37]
Chr3:3q26.1		 pathogenic|likely pathogenic
NM_007217.4(PDCD10):c.501del (p.Phe167fs) deletion not provided [RCV000721808] Chr3:167687290 [GRCh38]
Chr3:167405078 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.396-3C>G single nucleotide variant not provided [RCV000721805] Chr3:167687696 [GRCh38]
Chr3:167405484 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.-308T>C single nucleotide variant not provided [RCV001692280]|not specified [RCV000721794] Chr3:167734716 [GRCh38]
Chr3:167452504 [GRCh37]
Chr3:3q26.1		 benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_007217.4(PDCD10):c.474+9A>G single nucleotide variant not provided [RCV000871680] Chr3:167687606 [GRCh38]
Chr3:167405394 [GRCh37]
Chr3:3q26.1		 benign
NM_007217.4(PDCD10):c.558-267T>G single nucleotide variant not provided [RCV001611594] Chr3:167684656 [GRCh38]
Chr3:167402444 [GRCh37]
Chr3:3q26.1		 benign
NM_007217.4(PDCD10):c.213C>T (p.Ser71=) single nucleotide variant not provided [RCV000950579] Chr3:167697064 [GRCh38]
Chr3:167414852 [GRCh37]
Chr3:3q26.1		 likely benign
NC_000003.12:g.(?_167684288)_(167825343_?)dup duplication Familial encephalopathy with neuroserpin inclusion bodies [RCV001033883] Chr3:167402076..167543131 [GRCh37]
Chr3:3q26.1		 uncertain significance
NC_000003.12:g.(?_167684288)_(167720177_?)del deletion Cerebral cavernous malformation 3 [RCV000792786] Chr3:167684288..167720177 [GRCh38]
Chr3:167402076..167437965 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.394A>T (p.Lys132Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV000804198] Chr3:167695597 [GRCh38]
Chr3:167413385 [GRCh37]
Chr3:3q26.1		 pathogenic
GRCh37/hg19 3q26.1-26.2(chr3:165603872-168796960)x1 copy number loss not provided [RCV000847552] Chr3:165603872..168796960 [GRCh37]
Chr3:3q26.1-26.2		 pathogenic
NC_000003.12:g.(?_167684288)_(167825343_?)del deletion Cerebral cavernous malformation 3 [RCV001032279] Chr3:167402076..167543131 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.268+6G>A single nucleotide variant Cerebral cavernous malformation 3 [RCV001223681] Chr3:167697003 [GRCh38]
Chr3:167414791 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.*139A>G single nucleotide variant Cerebral cavernous malformation 3 [RCV001144744] Chr3:167684169 [GRCh38]
Chr3:167401957 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.395+203_395+205del microsatellite not provided [RCV001688840] Chr3:167695391..167695393 [GRCh38]
Chr3:167413179..167413181 [GRCh37]
Chr3:3q26.1		 benign
Single allele single nucleotide variant not provided [RCV001639806] Chr3:167734916 [GRCh38]
Chr3:167452704 [GRCh37]
Chr3:3q26.1		 benign
NM_007217.4(PDCD10):c.150+273dup duplication not provided [RCV001616578] Chr3:167704556..167704557 [GRCh38]
Chr3:167422344..167422345 [GRCh37]
Chr3:3q26.1		 benign
NM_007217.4(PDCD10):c.-393G>A single nucleotide variant Cerebral cavernous malformation 3 [RCV001146713] Chr3:167734801 [GRCh38]
Chr3:167452589 [GRCh37]
Chr3:3q26.1		 uncertain significance
NC_000003.12:g.(?_167684288)_(167687713_?)del deletion Cerebral cavernous malformation 3 [RCV001033377] Chr3:167402076..167405501 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.565_566del (p.Asn189fs) deletion Cerebral cavernous malformation 3 [RCV001238455] Chr3:167684381..167684382 [GRCh38]
Chr3:167402169..167402170 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.269-260del deletion not provided [RCV001621515] Chr3:167695982 [GRCh38]
Chr3:167413770 [GRCh37]
Chr3:3q26.1		 benign
NM_007217.4(PDCD10):c.150+285del deletion not provided [RCV001536781] Chr3:167704557 [GRCh38]
Chr3:167422345 [GRCh37]
Chr3:3q26.1		 benign
NM_007217.4(PDCD10):c.395+216A>G single nucleotide variant not provided [RCV001637496] Chr3:167695380 [GRCh38]
Chr3:167413168 [GRCh37]
Chr3:3q26.1		 benign
NM_007217.4(PDCD10):c.150+93G>A single nucleotide variant not provided [RCV001635553] Chr3:167704749 [GRCh38]
Chr3:167422537 [GRCh37]
Chr3:3q26.1		 benign
NC_000003.12:g.(?_167687214)_(167695742_?)dup duplication Cerebral cavernous malformation 3 [RCV001032624] Chr3:167405002..167413530 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.558-59A>G single nucleotide variant not provided [RCV001541764] Chr3:167684448 [GRCh38]
Chr3:167402236 [GRCh37]
Chr3:3q26.1		 benign
NC_000003.12:g.(?_167684288)_(167697146_?)del deletion Cerebral cavernous malformation 3 [RCV001033649] Chr3:167402076..167414934 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.558-97T>C single nucleotide variant not provided [RCV001648319] Chr3:167684486 [GRCh38]
Chr3:167402274 [GRCh37]
Chr3:3q26.1		 benign
NM_007217.4(PDCD10):c.418G>T (p.Glu140Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV001197013] Chr3:167687671 [GRCh38]
Chr3:167405459 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.*199A>C single nucleotide variant Cerebral cavernous malformation 3 [RCV001144743] Chr3:167684109 [GRCh38]
Chr3:167401897 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.557A>G (p.Lys186Arg) single nucleotide variant Cerebral cavernous malformation 3 [RCV001144745] Chr3:167687234 [GRCh38]
Chr3:167405022 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.-117+6518_20del deletion Cerebral cavernous malformation 3 [RCV001040982] Chr3:167720138..167727696 [GRCh38]
Chr3:167437926..167445484 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.178C>T (p.Gln60Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV001055829] Chr3:167697099 [GRCh38]
Chr3:167414887 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.395+46C>T single nucleotide variant Cerebral cavernous malformation 3 [RCV001262731] Chr3:167695550 [GRCh38]
Chr3:167413338 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.299del (p.Phe100fs) deletion Inborn genetic diseases [RCV001265996] Chr3:167695692 [GRCh38]
Chr3:167413480 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.557+1G>A single nucleotide variant not provided [RCV001786740] Chr3:167687233 [GRCh38]
Chr3:167405021 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.401T>C (p.Ile134Thr) single nucleotide variant not provided [RCV001311631] Chr3:167687688 [GRCh38]
Chr3:167405476 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.475-4del deletion Cerebral cavernous malformation 3 [RCV001488704] Chr3:167687320 [GRCh38]
Chr3:167405108 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.576_579del (p.Ser193fs) deletion Cerebral cavernous malformation 3 [RCV001388666] Chr3:167684368..167684371 [GRCh38]
Chr3:167402156..167402159 [GRCh37]
Chr3:3q26.1		 pathogenic
NC_000003.11:g.(?_167422610)_(167437965_?)del deletion Cerebral cavernous malformation 3 [RCV001388948] Chr3:167422610..167437965 [GRCh37]
Chr3:3q26.1		 pathogenic
NC_000003.11:g.(?_167422610)_(167422703_?)del deletion Cerebral cavernous malformation 3 [RCV001379426] Chr3:167422610..167422703 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.211dup (p.Ser71fs) duplication Cerebral cavernous malformation 3 [RCV001390464] Chr3:167697065..167697066 [GRCh38]
Chr3:167414853..167414854 [GRCh37]
Chr3:3q26.1		 pathogenic
NC_000003.11:g.(?_167437926)_167445484del deletion Cerebral cavernous malformation 3 [RCV001386269]   pathogenic
NM_007217.4(PDCD10):c.558-2A>G single nucleotide variant Cerebral cavernous malformation 3 [RCV001389091] Chr3:167684391 [GRCh38]
Chr3:167402179 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.269-277del deletion not provided [RCV001675344] Chr3:167695999 [GRCh38]
Chr3:167413787 [GRCh37]
Chr3:3q26.1		 benign
NM_007217.4(PDCD10):c.104G>A (p.Arg35Gln) single nucleotide variant not provided [RCV001700905]|not specified [RCV001727950] Chr3:167704888 [GRCh38]
Chr3:167422676 [GRCh37]
Chr3:3q26.1		 benign|likely benign
NM_007217.4(PDCD10):c.333del (p.Lys111fs) deletion Cerebral cavernous malformation 3 [RCV001375932] Chr3:167695658 [GRCh38]
Chr3:167413446 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.474G>T (p.Arg158Ser) single nucleotide variant not provided [RCV001763822] Chr3:167687615 [GRCh38]
Chr3:167405403 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.131dup (p.Arg45fs) duplication Cerebral cavernous malformation 1 [RCV001823320] Chr3:167704860..167704861 [GRCh38]
Chr3:167422648..167422649 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.164del (p.Asn55fs) deletion Cerebral cavernous malformation 3 [RCV002002420] Chr3:167697113 [GRCh38]
Chr3:167414901 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.62_71del (p.Pro21fs) deletion Cerebral cavernous malformation 3 [RCV001946894] Chr3:167720087..167720096 [GRCh38]
Chr3:167437875..167437884 [GRCh37]
Chr3:3q26.1		 pathogenic
GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596) copy number gain not specified [RCV002053385] Chr3:163595552..168022596 [GRCh37]
Chr3:3q26.1-26.2		 uncertain significance
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33		 pathogenic
GRCh37/hg19 3q26.1(chr3:167247577-167470158)x3 copy number gain not provided [RCV001827692] Chr3:167247577..167470158 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.211del (p.Ser71fs) deletion Cerebral cavernous malformation 3 [RCV001894339] Chr3:167697066 [GRCh38]
Chr3:167414854 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.160_161del (p.Glu54fs) deletion Cerebral cavernous malformation 3 [RCV001948478] Chr3:167697116..167697117 [GRCh38]
Chr3:167414904..167414905 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.131_132insTT (p.Leu44_Arg45insTer) insertion Cerebral cavernous malformation 3 [RCV001883598] Chr3:167704860..167704861 [GRCh38]
Chr3:167422648..167422649 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.334_337del (p.Gln112fs) deletion Cerebral cavernous malformation 3 [RCV001941531] Chr3:167695654..167695657 [GRCh38]
Chr3:167413442..167413445 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.442_443del (p.Val148fs) deletion Cerebral cavernous malformation 3 [RCV001942623] Chr3:167687646..167687647 [GRCh38]
Chr3:167405434..167405435 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.160G>T (p.Glu54Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV001917956] Chr3:167697117 [GRCh38]
Chr3:167414905 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.522_528del (p.Phe174fs) deletion Cerebral cavernous malformation 3 [RCV001898350] Chr3:167687263..167687269 [GRCh38]
Chr3:167405051..167405057 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.456T>G (p.Tyr152Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV001956517] Chr3:167687633 [GRCh38]
Chr3:167405421 [GRCh37]
Chr3:3q26.1		 pathogenic
NC_000003.11:g.(?_167402096)_(167405501_?)del deletion Cerebral cavernous malformation 3 [RCV001951479] Chr3:167402096..167405501 [GRCh37]
Chr3:3q26.1		 pathogenic
NC_000003.11:g.(?_167402096)_(167543111_?)dup duplication Familial encephalopathy with neuroserpin inclusion bodies [RCV001931720] Chr3:167402096..167543111 [GRCh37]
Chr3:3q26.1		 uncertain significance
NC_000003.11:g.(?_167413364)_(167437945_?)del deletion Cerebral cavernous malformation 3 [RCV001951555] Chr3:167413364..167437945 [GRCh37]
Chr3:3q26.1		 pathogenic
NC_000003.11:g.(?_167437830)_(167437945_?)del deletion Cerebral cavernous malformation 3 [RCV001975251] Chr3:167437830..167437945 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.45A>G (p.Thr15=) single nucleotide variant Cerebral cavernous malformation 3 [RCV002166835] Chr3:167720113 [GRCh38]
Chr3:167437901 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.475-11del deletion Cerebral cavernous malformation 3 [RCV002127695] Chr3:167687327 [GRCh38]
Chr3:167405115 [GRCh37]
Chr3:3q26.1		 benign
NM_007217.4(PDCD10):c.96+17T>C single nucleotide variant Cerebral cavernous malformation 3 [RCV002152072] Chr3:167720045 [GRCh38]
Chr3:167437833 [GRCh37]
Chr3:3q26.1		 likely benign
NC_000003.11:g.(?_167413364)_(167413530_?)del deletion Cerebral cavernous malformation 3 [RCV003113669] Chr3:167413364..167413530 [GRCh37]
Chr3:3q26.1		 pathogenic
NC_000003.11:g.(?_167405002)_(167413530_?)del deletion Cerebral cavernous malformation 3 [RCV003113670] Chr3:167405002..167413530 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.208A>T (p.Lys70Ter) single nucleotide variant Cerebral cavernous malformation 3 [RCV003120126] Chr3:167697069 [GRCh38]
Chr3:167414857 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.195A>G (p.Lys65=) single nucleotide variant Inborn genetic diseases [RCV002421688] Chr3:167697082 [GRCh38]
Chr3:167414870 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.542A>G (p.Tyr181Cys) single nucleotide variant Cerebral cavernous malformation 3 [RCV003147904] Chr3:167687249 [GRCh38]
Chr3:167405037 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.68_69del (p.Tyr23fs) deletion Cerebral cavernous malformation 3 [RCV003148132] Chr3:167720089..167720090 [GRCh38]
Chr3:167437877..167437878 [GRCh37]
Chr3:3q26.1		 pathogenic
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_007217.4(PDCD10):c.311A>G (p.Asn104Ser) single nucleotide variant Cerebral cavernous malformation 3 [RCV003099213]|Inborn genetic diseases [RCV002320465] Chr3:167695680 [GRCh38]
Chr3:167413468 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.630T>C (p.Thr210=) single nucleotide variant Inborn genetic diseases [RCV002353973] Chr3:167684317 [GRCh38]
Chr3:167402105 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.99A>G (p.Leu33=) single nucleotide variant Inborn genetic diseases [RCV002383091] Chr3:167704893 [GRCh38]
Chr3:167422681 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.228C>T (p.Phe76=) single nucleotide variant Inborn genetic diseases [RCV002457465] Chr3:167697049 [GRCh38]
Chr3:167414837 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.381T>C (p.Phe127=) single nucleotide variant Inborn genetic diseases [RCV002355329] Chr3:167695610 [GRCh38]
Chr3:167413398 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.495A>G (p.Lys165=) single nucleotide variant Inborn genetic diseases [RCV002342774] Chr3:167687296 [GRCh38]
Chr3:167405084 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.529dup (p.Thr177fs) duplication Cerebral cavernous malformation 3 [RCV003015946] Chr3:167687261..167687262 [GRCh38]
Chr3:167405049..167405050 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.392T>G (p.Ile131Ser) single nucleotide variant not provided [RCV002462805] Chr3:167695599 [GRCh38]
Chr3:167413387 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.268+18del deletion Cerebral cavernous malformation 3 [RCV003016363] Chr3:167696991 [GRCh38]
Chr3:167414779 [GRCh37]
Chr3:3q26.1		 likely benign
GRCh37/hg19 3q26.1(chr3:167237803-167447300)x3 copy number gain not provided [RCV002475562] Chr3:167237803..167447300 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.312C>T (p.Asn104=) single nucleotide variant Cerebral cavernous malformation 3 [RCV003079344] Chr3:167695679 [GRCh38]
Chr3:167413467 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.396-19T>C single nucleotide variant Cerebral cavernous malformation 3 [RCV002889884] Chr3:167687712 [GRCh38]
Chr3:167405500 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.151-14del deletion Cerebral cavernous malformation 3 [RCV002846629] Chr3:167697140 [GRCh38]
Chr3:167414928 [GRCh37]
Chr3:3q26.1		 benign
NM_007217.4(PDCD10):c.398A>C (p.Asp133Ala) single nucleotide variant Inborn genetic diseases [RCV002783411] Chr3:167687691 [GRCh38]
Chr3:167405479 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.557+1G>T single nucleotide variant Cerebral cavernous malformation 3 [RCV003035801] Chr3:167687233 [GRCh38]
Chr3:167405021 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.150+11A>G single nucleotide variant Cerebral cavernous malformation 3 [RCV002644418] Chr3:167704831 [GRCh38]
Chr3:167422619 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.274_275del (p.Met92fs) microsatellite Cerebral cavernous malformation 3 [RCV002875917] Chr3:167695716..167695717 [GRCh38]
Chr3:167413504..167413505 [GRCh37]
Chr3:3q26.1		 pathogenic
NM_007217.4(PDCD10):c.68A>G (p.Tyr23Cys) single nucleotide variant Inborn genetic diseases [RCV002849829] Chr3:167720090 [GRCh38]
Chr3:167437878 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.71C>T (p.Ala24Val) single nucleotide variant Cerebral cavernous malformation 3 [RCV003022573] Chr3:167720087 [GRCh38]
Chr3:167437875 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.97-1G>A single nucleotide variant Cerebral cavernous malformation 3 [RCV003024334] Chr3:167704896 [GRCh38]
Chr3:167422684 [GRCh37]
Chr3:3q26.1		 likely pathogenic
NM_007217.4(PDCD10):c.214G>A (p.Val72Met) single nucleotide variant Cerebral cavernous malformation 3 [RCV002889960] Chr3:167697063 [GRCh38]
Chr3:167414851 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.474+4_474+5insACAA insertion Cerebral cavernous malformation 3 [RCV003028767] Chr3:167687610..167687611 [GRCh38]
Chr3:167405398..167405399 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.143TCA[1] (p.Ile49del) microsatellite Cerebral cavernous malformation 3 [RCV002962110] Chr3:167704844..167704846 [GRCh38]
Chr3:167422632..167422634 [GRCh37]
Chr3:3q26.1		 uncertain significance
NM_007217.4(PDCD10):c.270G>A (p.Glu90=) single nucleotide variant Cerebral cavernous malformation 3 [RCV002635922] Chr3:167695721 [GRCh38]
Chr3:167413509 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.475-8G>A single nucleotide variant Cerebral cavernous malformation 3 [RCV003068358] Chr3:167687324 [GRCh38]
Chr3:167405112 [GRCh37]
Chr3:3q26.1		 likely benign
NM_007217.4(PDCD10):c.414A>G (p.Ile138Met) single nucleotide variant Inborn genetic diseases [RCV003191648] Chr3:167687675 [GRCh38]
Chr3:167405463 [GRCh37]
Chr3:3q26.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2645
Count of miRNA genes:883
Interacting mature miRNAs:1053
Transcripts:ENST00000392750, ENST00000461494, ENST00000462725, ENST00000462830, ENST00000464360, ENST00000470131, ENST00000471885, ENST00000473645, ENST00000475915, ENST00000479121, ENST00000481136, ENST00000483451, ENST00000487678, ENST00000487947, ENST00000492139, ENST00000492396, ENST00000494502, ENST00000497056
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-79363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373167,445,864 - 167,446,162UniSTSGRCh37
Build 363168,928,558 - 168,928,856RGDNCBI36
Celera3165,844,300 - 165,844,598RGD
Cytogenetic Map3q26.1UniSTS
HuRef3164,815,926 - 164,816,224UniSTS
TNG Radiation Hybrid Map394077.0UniSTS


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 2385 1908 1423 357 1467 204 3496 1131 2652 360 1435 1606 169 1 1201 1986 6 2
Low 54 1082 303 267 483 261 861 1066 1082 59 24 7 6 2 802
Below cutoff 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF022385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000392750   ⟹   ENSP00000376506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,683,298 - 167,734,892 (-)Ensembl
RefSeq Acc Id: ENST00000461494   ⟹   ENSP00000420021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,684,242 - 167,734,544 (-)Ensembl
RefSeq Acc Id: ENST00000462725   ⟹   ENSP00000420424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,687,649 - 167,734,517 (-)Ensembl
RefSeq Acc Id: ENST00000462830
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,697,007 - 167,697,955 (-)Ensembl
RefSeq Acc Id: ENST00000464360   ⟹   ENSP00000418160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,697,040 - 167,734,832 (-)Ensembl
RefSeq Acc Id: ENST00000470131   ⟹   ENSP00000417202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,684,256 - 167,734,892 (-)Ensembl
RefSeq Acc Id: ENST00000471885   ⟹   ENSP00000417876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,687,222 - 167,734,851 (-)Ensembl
RefSeq Acc Id: ENST00000473645   ⟹   ENSP00000418317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,683,910 - 167,734,939 (-)Ensembl
RefSeq Acc Id: ENST00000475915   ⟹   ENSP00000417118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,684,339 - 167,734,510 (-)Ensembl
RefSeq Acc Id: ENST00000479121   ⟹   ENSP00000420308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,687,223 - 167,720,098 (-)Ensembl
RefSeq Acc Id: ENST00000481136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,704,558 - 167,734,929 (-)Ensembl
RefSeq Acc Id: ENST00000483451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,695,596 - 167,734,821 (-)Ensembl
RefSeq Acc Id: ENST00000487678
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,720,205 - 167,730,976 (-)Ensembl
RefSeq Acc Id: ENST00000487947   ⟹   ENSP00000420266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,687,215 - 167,734,482 (-)Ensembl
RefSeq Acc Id: ENST00000492139   ⟹   ENSP00000420014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,687,687 - 167,734,836 (-)Ensembl
RefSeq Acc Id: ENST00000492396   ⟹   ENSP00000417309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,684,114 - 167,725,477 (-)Ensembl
RefSeq Acc Id: ENST00000494502   ⟹   ENSP00000420450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,695,609 - 167,734,863 (-)Ensembl
RefSeq Acc Id: ENST00000497056   ⟹   ENSP00000420553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3167,683,912 - 167,734,930 (-)Ensembl
RefSeq Acc Id: NM_007217   ⟹   NP_009148
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
GRCh373167,401,692 - 167,452,693 (-)NCBI
Build 363168,884,388 - 168,935,288 (-)NCBI Archive
HuRef3164,771,770 - 164,822,713 (-)ENTREZGENE
CHM1_13167,364,579 - 167,415,466 (-)NCBI
T2T-CHM13v2.03170,467,195 - 170,518,782 (-)NCBI
Sequence:
RefSeq Acc Id: NM_145859   ⟹   NP_665858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
GRCh373167,401,692 - 167,452,693 (-)NCBI
Build 363168,884,388 - 168,935,345 (-)NCBI Archive
HuRef3164,771,770 - 164,822,713 (-)ENTREZGENE
CHM1_13167,364,579 - 167,415,523 (-)NCBI
T2T-CHM13v2.03170,467,195 - 170,518,782 (-)NCBI
Sequence:
RefSeq Acc Id: NM_145860   ⟹   NP_665859
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
GRCh373167,401,692 - 167,452,693 (-)NCBI
Build 363168,884,388 - 168,935,324 (-)NCBI Archive
HuRef3164,771,770 - 164,822,713 (-)ENTREZGENE
CHM1_13167,364,579 - 167,415,502 (-)NCBI
T2T-CHM13v2.03170,467,195 - 170,518,782 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247086   ⟹   XP_005247143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247087   ⟹   XP_005247144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247088   ⟹   XP_005247145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713485   ⟹   XP_006713548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512368   ⟹   XP_011510670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512369   ⟹   XP_011510671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005644   ⟹   XP_016861133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447374   ⟹   XP_047303330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
RefSeq Acc Id: XM_047447375   ⟹   XP_047303331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,683,298 - 167,734,892 (-)NCBI
RefSeq Acc Id: XM_054345093   ⟹   XP_054201068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,467,195 - 170,518,782 (-)NCBI
RefSeq Acc Id: XM_054345094   ⟹   XP_054201069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,467,195 - 170,518,782 (-)NCBI
RefSeq Acc Id: XM_054345095   ⟹   XP_054201070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,467,195 - 170,518,782 (-)NCBI
RefSeq Acc Id: XM_054345096   ⟹   XP_054201071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,467,195 - 170,518,782 (-)NCBI
RefSeq Acc Id: XM_054345097   ⟹   XP_054201072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,467,195 - 170,518,447 (-)NCBI
RefSeq Acc Id: XM_054345098   ⟹   XP_054201073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,467,195 - 170,518,818 (-)NCBI
RefSeq Acc Id: XM_054345099   ⟹   XP_054201074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,467,195 - 170,518,818 (-)NCBI
RefSeq Acc Id: XM_054345100   ⟹   XP_054201075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,467,195 - 170,518,819 (-)NCBI
RefSeq Acc Id: XM_054345101   ⟹   XP_054201076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03170,467,195 - 170,518,819 (-)NCBI
Protein Sequences
Protein RefSeqs NP_009148 (Get FASTA)   NCBI Sequence Viewer  
  NP_665858 (Get FASTA)   NCBI Sequence Viewer  
  NP_665859 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247143 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247144 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247145 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713548 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510670 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510671 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861133 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303330 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303331 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201068 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201069 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201070 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201071 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201072 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201073 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201074 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201075 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201076 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB72225 (Get FASTA)   NCBI Sequence Viewer  
  AAH02506 (Get FASTA)   NCBI Sequence Viewer  
  AAH16353 (Get FASTA)   NCBI Sequence Viewer  
  BAF83819 (Get FASTA)   NCBI Sequence Viewer  
  CAG33388 (Get FASTA)   NCBI Sequence Viewer  
  EAW78574 (Get FASTA)   NCBI Sequence Viewer  
  EAW78575 (Get FASTA)   NCBI Sequence Viewer  
  EAW78576 (Get FASTA)   NCBI Sequence Viewer  
  EAW78577 (Get FASTA)   NCBI Sequence Viewer  
  EAW78578 (Get FASTA)   NCBI Sequence Viewer  
  EAW78579 (Get FASTA)   NCBI Sequence Viewer  
  EAW78580 (Get FASTA)   NCBI Sequence Viewer  
  EAW78581 (Get FASTA)   NCBI Sequence Viewer  
  Q9BUL8 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_665858   ⟸   NM_145859
- UniProtKB: O14811 (UniProtKB/Swiss-Prot),   Q9BUL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_665859   ⟸   NM_145860
- UniProtKB: O14811 (UniProtKB/Swiss-Prot),   Q9BUL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_009148   ⟸   NM_007217
- UniProtKB: O14811 (UniProtKB/Swiss-Prot),   Q9BUL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247143   ⟸   XM_005247086
- Peptide Label: isoform X1
- UniProtKB: O14811 (UniProtKB/Swiss-Prot),   Q9BUL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247144   ⟸   XM_005247087
- Peptide Label: isoform X1
- UniProtKB: O14811 (UniProtKB/Swiss-Prot),   Q9BUL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247145   ⟸   XM_005247088
- Peptide Label: isoform X1
- UniProtKB: O14811 (UniProtKB/Swiss-Prot),   Q9BUL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006713548   ⟸   XM_006713485
- Peptide Label: isoform X1
- UniProtKB: O14811 (UniProtKB/Swiss-Prot),   Q9BUL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011510670   ⟸   XM_011512368
- Peptide Label: isoform X1
- UniProtKB: O14811 (UniProtKB/Swiss-Prot),   Q9BUL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011510671   ⟸   XM_011512369
- Peptide Label: isoform X1
- UniProtKB: O14811 (UniProtKB/Swiss-Prot),   Q9BUL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016861133   ⟸   XM_017005644
- Peptide Label: isoform X1
- UniProtKB: O14811 (UniProtKB/Swiss-Prot),   Q9BUL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000420424   ⟸   ENST00000462725
RefSeq Acc Id: ENSP00000418160   ⟸   ENST00000464360
RefSeq Acc Id: ENSP00000420308   ⟸   ENST00000479121
RefSeq Acc Id: ENSP00000417309   ⟸   ENST00000492396
RefSeq Acc Id: ENSP00000420014   ⟸   ENST00000492139
RefSeq Acc Id: ENSP00000420450   ⟸   ENST00000494502
RefSeq Acc Id: ENSP00000420553   ⟸   ENST00000497056
RefSeq Acc Id: ENSP00000417202   ⟸   ENST00000470131
RefSeq Acc Id: ENSP00000376506   ⟸   ENST00000392750
RefSeq Acc Id: ENSP00000417876   ⟸   ENST00000471885
RefSeq Acc Id: ENSP00000418317   ⟸   ENST00000473645
RefSeq Acc Id: ENSP00000420266   ⟸   ENST00000487947
RefSeq Acc Id: ENSP00000417118   ⟸   ENST00000475915
RefSeq Acc Id: ENSP00000420021   ⟸   ENST00000461494
RefSeq Acc Id: XP_047303331   ⟸   XM_047447375
- Peptide Label: isoform X1
- UniProtKB: O14811 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047303330   ⟸   XM_047447374
- Peptide Label: isoform X1
- UniProtKB: O14811 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054201076   ⟸   XM_054345101
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201075   ⟸   XM_054345100
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201073   ⟸   XM_054345098
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201074   ⟸   XM_054345099
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201069   ⟸   XM_054345094
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201070   ⟸   XM_054345095
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201068   ⟸   XM_054345093
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201071   ⟸   XM_054345096
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201072   ⟸   XM_054345097
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BUL8-F1-model_v2 AlphaFold Q9BUL8 1-212 view protein structure

Promoters
RGD ID:6866212
Promoter ID:EPDNEW_H6271
Type:initiation region
Name:PDCD10_1
Description:programmed cell death 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383167,734,892 - 167,734,952EPDNEW
RGD ID:6801401
Promoter ID:HG_KWN:46640
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_007217,   NM_145859,   UC003FEZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363168,935,206 - 168,936,122 (-)MPROMDB
RGD ID:6852854
Promoter ID:EP74243
Type:initiation region
Name:HS_PDCD10
Description:Programmed cell death 10.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 363168,935,374 - 168,935,434EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8761 AgrOrtholog
COSMIC PDCD10 COSMIC
Ensembl Genes ENSG00000114209 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000376506 ENTREZGENE
  ENSP00000376506.2 UniProtKB/Swiss-Prot
  ENSP00000417118 ENTREZGENE
  ENSP00000417118.2 UniProtKB/TrEMBL
  ENSP00000417202 ENTREZGENE
  ENSP00000417202.1 UniProtKB/Swiss-Prot
  ENSP00000417309.1 UniProtKB/TrEMBL
  ENSP00000417876.1 UniProtKB/TrEMBL
  ENSP00000418160.1 UniProtKB/TrEMBL
  ENSP00000418317 ENTREZGENE
  ENSP00000418317.2 UniProtKB/Swiss-Prot
  ENSP00000420014.1 UniProtKB/TrEMBL
  ENSP00000420021 ENTREZGENE
  ENSP00000420021.1 UniProtKB/Swiss-Prot
  ENSP00000420266.2 UniProtKB/TrEMBL
  ENSP00000420308.1 UniProtKB/TrEMBL
  ENSP00000420424.2 UniProtKB/TrEMBL
  ENSP00000420450.2 UniProtKB/TrEMBL
  ENSP00000420553 ENTREZGENE
  ENSP00000420553.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000392750 ENTREZGENE
  ENST00000392750.7 UniProtKB/Swiss-Prot
  ENST00000461494 ENTREZGENE
  ENST00000461494.5 UniProtKB/Swiss-Prot
  ENST00000462725.6 UniProtKB/TrEMBL
  ENST00000464360.5 UniProtKB/TrEMBL
  ENST00000470131 ENTREZGENE
  ENST00000470131.5 UniProtKB/Swiss-Prot
  ENST00000471885.5 UniProtKB/TrEMBL
  ENST00000473645 ENTREZGENE
  ENST00000473645.6 UniProtKB/Swiss-Prot
  ENST00000475915 ENTREZGENE
  ENST00000475915.6 UniProtKB/TrEMBL
  ENST00000479121.5 UniProtKB/TrEMBL
  ENST00000487947.6 UniProtKB/TrEMBL
  ENST00000492139.5 UniProtKB/TrEMBL
  ENST00000492396.5 UniProtKB/TrEMBL
  ENST00000494502.6 UniProtKB/TrEMBL
  ENST00000497056 ENTREZGENE
  ENST00000497056.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.12.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.1950 UniProtKB/TrEMBL
  Nucleotidyltransferases domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000114209 GTEx
HGNC ID HGNC:8761 ENTREZGENE
Human Proteome Map PDCD10 Human Proteome Map
InterPro PDC10_dimerisation_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDCD10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11235 UniProtKB/Swiss-Prot
NCBI Gene 11235 ENTREZGENE
OMIM 609118 OMIM
PANTHER PROGRAMMED CELL DEATH PROTEIN 10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13250 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF1241 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33111 PharmGKB
UniProt C9J363_HUMAN UniProtKB/TrEMBL
  C9J5C3_HUMAN UniProtKB/TrEMBL
  C9J6F3_HUMAN UniProtKB/TrEMBL
  C9J932_HUMAN UniProtKB/TrEMBL
  C9JND6_HUMAN UniProtKB/TrEMBL
  C9JSA3_HUMAN UniProtKB/TrEMBL
  F8WDF3_HUMAN UniProtKB/TrEMBL
  H7C5M9_HUMAN UniProtKB/TrEMBL
  O14811 ENTREZGENE
  PDC10_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K515 UniProtKB/Swiss-Prot
  C9JPL6 UniProtKB/TrEMBL
  D3DNN5 UniProtKB/Swiss-Prot
  O14811 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-19 PDCD10  programmed cell death 10  CCM3~withdrawn  cerebral cavernous malformation 3  Data Merged 737654 PROVISIONAL
2016-04-12 CCM3~withdrawn  cerebral cavernous malformation 3  CCM3    Symbol and/or name change 5135510 APPROVED
2011-08-16 PDCD10  programmed cell death 10  PDCD10  programmed cell death 10  Symbol and/or name change 5135510 APPROVED