PDE8B (phosphodiesterase 8B) - Rat Genome Database

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Gene: PDE8B (phosphodiesterase 8B) Homo sapiens
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Symbol: PDE8B
Name: phosphodiesterase 8B
RGD ID: 1348334
HGNC Page HGNC:8794
Description: Enables 3',5'-cyclic-AMP phosphodiesterase activity. Predicted to be involved in cAMP-mediated signaling and positive regulation of ERK1 and ERK2 cascade. Predicted to act upstream of or within several processes, including behavioral fear response; learning; and negative regulation of steroid hormone biosynthetic process. Predicted to be active in cytosol; nucleus; and perinuclear region of cytoplasm. Implicated in primary pigmented nodular adrenocortical disease 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3',5' cyclic nucleotide phosphodiesterase 8B; ADSD; cell proliferation-inducing gene 22 protein; FLJ11212; high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B; hsPDE8B; PPNAD3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC068714.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38577,086,715 - 77,428,256 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl577,086,732 - 77,427,124 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl577,210,449 - 77,428,256 (+)EnsemblGRCh38hg38GRCh38
GRCh37576,382,540 - 76,724,081 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36576,542,462 - 76,758,999 (+)NCBINCBI36Build 36hg18NCBI36
Build 34576,542,461 - 76,758,982NCBI
Celera572,400,947 - 72,618,614 (+)NCBICelera
Cytogenetic Map5q13.3NCBI
HuRef571,713,174 - 71,930,868 (+)NCBIHuRef
CHM1_1575,940,448 - 76,157,815 (+)NCBICHM1_1
T2T-CHM13v2.0577,568,346 - 77,910,865 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Biochemistry and physiology of cyclic nucleotide phosphodiesterases: essential components in cyclic nucleotide signaling. Conti M and Beavo J, Annu Rev Biochem. 2007;76:481-511.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9784418   PMID:10737800   PMID:11502813   PMID:12372422   PMID:12477932   PMID:12681444   PMID:12895443   PMID:14702039   PMID:15144186   PMID:15210883   PMID:15489334   PMID:18431404  
PMID:18514160   PMID:19429701   PMID:19820008   PMID:20085714   PMID:20373981   PMID:20379614   PMID:21317282   PMID:21502949   PMID:21873635   PMID:22084153   PMID:22335482   PMID:22493691  
PMID:22494929   PMID:22781450   PMID:23237535   PMID:23272636   PMID:23408906   PMID:23941514   PMID:24497218   PMID:25436638   PMID:25822812   PMID:26673895   PMID:26769607   PMID:28382505  
PMID:28727628   PMID:29909144   PMID:31726290   PMID:32120844   PMID:33961781   PMID:34315543   PMID:36277728   PMID:36964488   PMID:38989284  


Genomics

Comparative Map Data
PDE8B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38577,086,715 - 77,428,256 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl577,086,732 - 77,427,124 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 Ensembl577,210,449 - 77,428,256 (+)EnsemblGRCh38hg38GRCh38
GRCh37576,382,540 - 76,724,081 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36576,542,462 - 76,758,999 (+)NCBINCBI36Build 36hg18NCBI36
Build 34576,542,461 - 76,758,982NCBI
Celera572,400,947 - 72,618,614 (+)NCBICelera
Cytogenetic Map5q13.3NCBI
HuRef571,713,174 - 71,930,868 (+)NCBIHuRef
CHM1_1575,940,448 - 76,157,815 (+)NCBICHM1_1
T2T-CHM13v2.0577,568,346 - 77,910,865 (+)NCBIT2T-CHM13v2.0
Pde8b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391395,160,962 - 95,386,904 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1395,160,962 - 95,386,844 (-)EnsemblGRCm39 Ensembl
GRCm381395,024,105 - 95,250,401 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1395,024,454 - 95,250,336 (-)EnsemblGRCm38mm10GRCm38
MGSCv371395,794,060 - 96,020,259 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361396,125,209 - 96,356,676 (-)NCBIMGSCv36mm8
Celera1398,642,301 - 98,869,729 (-)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1349.22NCBI
Pde8b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8228,009,841 - 28,244,050 (-)NCBIGRCr8
mRatBN7.2226,275,117 - 26,479,725 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl226,276,635 - 26,509,209 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx233,312,032 - 33,416,252 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0231,412,277 - 31,516,497 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0226,230,581 - 26,334,824 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0224,718,548 - 24,955,533 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl224,719,976 - 24,923,128 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0243,877,817 - 44,112,405 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4225,352,725 - 25,469,209 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1225,273,093 - 25,389,578 (-)NCBI
Celera222,346,017 - 22,449,253 (-)NCBICelera
Cytogenetic Map2q12NCBI
Pde8b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542523,512,151 - 23,635,697 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542523,512,865 - 23,614,326 (-)NCBIChiLan1.0ChiLan1.0
PDE8B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2437,864,204 - 38,117,980 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1536,024,360 - 36,271,607 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0537,874,089 - 38,121,322 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1538,401,194 - 38,617,737 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl538,402,790 - 38,617,743 (-)Ensemblpanpan1.1panPan2
PDE8B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1329,289,867 - 29,432,557 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl329,291,549 - 29,432,542 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha330,529,732 - 30,795,035 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0329,211,247 - 29,477,045 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl329,212,086 - 29,476,198 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1329,145,547 - 29,411,320 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0329,126,263 - 29,366,339 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0329,457,265 - 29,761,295 (-)NCBIUU_Cfam_GSD_1.0
Pde8b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213185,408,778 - 185,646,290 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365495,212,834 - 5,448,515 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365495,212,693 - 5,450,195 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDE8B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl285,949,174 - 86,323,795 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1286,007,190 - 86,323,796 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2287,703,295 - 87,929,545 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PDE8B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1471,425,722 - 71,668,747 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl471,456,017 - 71,668,437 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604920,170,235 - 20,506,517 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pde8b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248691,695,480 - 1,936,048 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248691,695,362 - 1,936,097 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PDE8B
292 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003719.5(PDE8B):c.914A>C (p.His305Pro) single nucleotide variant Pigmented nodular adrenocortical disease, primary, 3 [RCV000006762] Chr5:77349456 [GRCh38]
Chr5:76645281 [GRCh37]
Chr5:5q13.3
pathogenic
NM_003719.5(PDE8B):c.94_95delinsC (p.Val32fs) indel Autosomal dominant striatal neurodegeneration type 1 [RCV000006763] Chr5:77211019..77211020 [GRCh38]
Chr5:76506844..76506845 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1
pathogenic
GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1 copy number loss See cases [RCV000053473] Chr5:77018109..78190068 [GRCh38]
Chr5:76313934..77485892 [GRCh37]
Chr5:76349690..77521648 [NCBI36]
Chr5:5q13.3-14.1
pathogenic
NC_000005.10:g.77193035G>A single nucleotide variant Lung cancer [RCV000096181] Chr5:77193035 [GRCh38]
Chr5:76488860 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh37/hg19 5q13.3(chr5:76465177-76597426)x3 copy number gain See cases [RCV000449048] Chr5:76465177..76597426 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.304G>T (p.Glu102Ter) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000224977] Chr5:77211229 [GRCh38]
Chr5:76507054 [GRCh37]
Chr5:5q13.3
pathogenic
NM_003719.5(PDE8B):c.79del (p.Arg27fs) deletion Autosomal dominant striatal neurodegeneration type 1 [RCV000224988] Chr5:77211001 [GRCh38]
Chr5:76506826 [GRCh37]
Chr5:5q13.3
pathogenic
NM_003719.5(PDE8B):c.2622A>G (p.Leu874=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000273933]|not provided [RCV000906757] Chr5:77426518 [GRCh38]
Chr5:76722343 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*64G>A single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001094968]|Striatal Degeneration [RCV000267169]|not provided [RCV004716394] Chr5:77426618 [GRCh38]
Chr5:76722443 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.*1520T>C single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000344747] Chr5:77428074 [GRCh38]
Chr5:76723899 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_003719.5(PDE8B):c.*516A>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000394564]|not provided [RCV004716399] Chr5:77427070 [GRCh38]
Chr5:76722895 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.*921A>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000333387] Chr5:77427475 [GRCh38]
Chr5:76723300 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*741A>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000268308] Chr5:77427295 [GRCh38]
Chr5:76723120 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*1128A>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000346315]|not provided [RCV004716400] Chr5:77427682 [GRCh38]
Chr5:76723507 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.552T>C (p.His184=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000396771]|not provided [RCV000975069] Chr5:77325691 [GRCh38]
Chr5:76621516 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.591-7A>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000303397]|not provided [RCV002061292] Chr5:77328991 [GRCh38]
Chr5:76624816 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*496A>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000397883] Chr5:77427050 [GRCh38]
Chr5:76722875 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.400-7G>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000304727]|not provided [RCV002058535] Chr5:77325532 [GRCh38]
Chr5:76621357 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*864_*865del deletion Striatal Degeneration [RCV000372963] Chr5:77427418..77427419 [GRCh38]
Chr5:76723243..76723244 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1764A>G (p.Glu588=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000287477]|not provided [RCV002061293] Chr5:77413162 [GRCh38]
Chr5:76708987 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.*1213C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000287991] Chr5:77427767 [GRCh38]
Chr5:76723592 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*1606T>C single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000305573] Chr5:77428160 [GRCh38]
Chr5:76723985 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*497dup duplication Striatal Degeneration [RCV000349252] Chr5:77427039..77427040 [GRCh38]
Chr5:76722864..76722865 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.*436C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000375960] Chr5:77426990 [GRCh38]
Chr5:76722815 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_003719.5(PDE8B):c.*456A>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000403841] Chr5:77427010 [GRCh38]
Chr5:76722835 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.*1150A>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000403973] Chr5:77427704 [GRCh38]
Chr5:76723529 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*63C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001094967]|Striatal Degeneration [RCV000272908]|not provided [RCV004716393] Chr5:77426617 [GRCh38]
Chr5:76722442 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.1366-5G>A single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000327783]|PDE8B-related disorder [RCV003972486]|not provided [RCV002058536]|not specified [RCV000455349] Chr5:77408888 [GRCh38]
Chr5:76704713 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*831T>C single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000320841] Chr5:77427385 [GRCh38]
Chr5:76723210 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*648T>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000308173] Chr5:77427202 [GRCh38]
Chr5:76723027 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.1921G>A (p.Asp641Asn) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000378464] Chr5:77418238 [GRCh38]
Chr5:76714063 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.1698C>A (p.Ala566=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000384180]|PDE8B-related disorder [RCV003932457]|not provided [RCV000879123] Chr5:77412221 [GRCh38]
Chr5:76708046 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.1152T>C (p.Thr384=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000354382]|not provided [RCV000893911] Chr5:77353391 [GRCh38]
Chr5:76649216 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.435C>T (p.Ser145=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000343035]|not provided [RCV000907283] Chr5:77325574 [GRCh38]
Chr5:76621399 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.1309C>T (p.Arg437Cys) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000385834]|Inborn genetic diseases [RCV004022003]|not provided [RCV001861263] Chr5:77407401 [GRCh38]
Chr5:76703226 [GRCh37]
Chr5:5q13.3
benign|likely benign|uncertain significance
NM_003719.5(PDE8B):c.1317G>A (p.Pro439=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000275067]|not provided [RCV000983365] Chr5:77407409 [GRCh38]
Chr5:76703234 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_003719.5(PDE8B):c.672G>A (p.Ala224=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000355891]|not provided [RCV000903417] Chr5:77331423 [GRCh38]
Chr5:76627248 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.362G>A (p.Arg121His) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000403089]|not provided [RCV000948294] Chr5:77312016 [GRCh38]
Chr5:76607841 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*70C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000324717]|not provided [RCV004716395] Chr5:77426624 [GRCh38]
Chr5:76722449 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.1267A>G (p.Ile423Val) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000276031]|PDE8B-related disorder [RCV004757218]|not provided [RCV000964127] Chr5:77404776 [GRCh38]
Chr5:76700601 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*1011A>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000293813] Chr5:77427565 [GRCh38]
Chr5:76723390 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_003719.5(PDE8B):c.-24C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000333244] Chr5:77210902 [GRCh38]
Chr5:76506727 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1299G>A (p.Leu433=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000333601]|not provided [RCV000922240] Chr5:77407391 [GRCh38]
Chr5:76703216 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.2145G>A (p.Thr715=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000405981]|not provided [RCV000910043] Chr5:77419782 [GRCh38]
Chr5:76715607 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.1881C>T (p.Thr627=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000344832] Chr5:77413279 [GRCh38]
Chr5:76709104 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_003719.5(PDE8B):c.*57C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000365063]|not provided [RCV004716392] Chr5:77426611 [GRCh38]
Chr5:76722436 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*437A>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000278043]|not provided [RCV004716396] Chr5:77426991 [GRCh38]
Chr5:76722816 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.*901A>G single nucleotide variant Striatal Degeneration [RCV000294913] Chr5:77427455 [GRCh38]
Chr5:76723280 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2263G>A (p.Asp755Asn) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000335098]|not provided [RCV000899495] Chr5:77421833 [GRCh38]
Chr5:76717658 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*439C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000335498] Chr5:77426993 [GRCh38]
Chr5:76722818 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*1007del deletion Striatal Degeneration [RCV000385607] Chr5:77427561 [GRCh38]
Chr5:76723386 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*863_*864del deletion Striatal Degeneration [RCV000262351] Chr5:77427402..77427403 [GRCh38]
Chr5:76723227..76723228 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.2343C>T (p.Asp781=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000314103]|PDE8B-related disorder [RCV003950255]|not provided [RCV002061294] Chr5:77421913 [GRCh38]
Chr5:76717738 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.*1590T>A single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000390818] Chr5:77428144 [GRCh38]
Chr5:76723969 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.858C>T (p.Ser286=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000263154]|not provided [RCV000912391] Chr5:77344913 [GRCh38]
Chr5:76640738 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.-23G>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000387760] Chr5:77210903 [GRCh38]
Chr5:76506728 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.2130G>A (p.Arg710=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000339330]|PDE8B-related disorder [RCV003957825]|not provided [RCV002520383] Chr5:77419767 [GRCh38]
Chr5:76715592 [GRCh37]
Chr5:5q13.3
benign|likely benign|uncertain significance
NM_003719.5(PDE8B):c.*480T>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000296656]|not provided [RCV004716397] Chr5:77427034 [GRCh38]
Chr5:76722859 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.63C>T (p.Asp21=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000350330]|not provided [RCV000889569] Chr5:77210988 [GRCh38]
Chr5:76506813 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.2235G>A (p.Lys745=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000299525]|not provided [RCV000920963] Chr5:77419872 [GRCh38]
Chr5:76715697 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.2274C>T (p.Cys758=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000395465]|not provided [RCV000888695] Chr5:77421844 [GRCh38]
Chr5:76717669 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_003719.5(PDE8B):c.*863_*865del deletion Striatal Degeneration [RCV000319775]|not provided [RCV004695882] Chr5:77427417..77427419 [GRCh38]
Chr5:76723242..76723244 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*512T>C single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000366496]|not provided [RCV004716398] Chr5:77427066 [GRCh38]
Chr5:76722891 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.156C>T (p.Ala52=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000291798]|not provided [RCV002061291] Chr5:77211081 [GRCh38]
Chr5:76506906 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_003719.5(PDE8B):c.52C>A (p.Arg18=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000293091] Chr5:77210977 [GRCh38]
Chr5:76506802 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.125G>C (p.Gly42Ala) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000405028]|Inborn genetic diseases [RCV004649140]|not specified [RCV003987519] Chr5:77211050 [GRCh38]
Chr5:76506875 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*287C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000284949] Chr5:77426841 [GRCh38]
Chr5:76722666 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*296dup duplication Striatal Degeneration [RCV000337742] Chr5:77426849..77426850 [GRCh38]
Chr5:76722674..76722675 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2545G>A (p.Asp849Asn) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000371049] Chr5:77425893 [GRCh38]
Chr5:76721718 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2115C>T (p.Phe705=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000286667] Chr5:77418432 [GRCh38]
Chr5:76714257 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.999A>G (p.Thr333=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000297237] Chr5:77349541 [GRCh38]
Chr5:76645366 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*506_*510del deletion Striatal Degeneration [RCV000309457] Chr5:77427056..77427060 [GRCh38]
Chr5:76722881..76722885 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*28C>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000312719] Chr5:77426582 [GRCh38]
Chr5:76722407 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*864del deletion Striatal Degeneration [RCV000359271] Chr5:77427402 [GRCh38]
Chr5:76723227 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*179G>A single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000377128] Chr5:77426733 [GRCh38]
Chr5:76722558 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.280A>G (p.Arg94Gly) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000344411]|Inborn genetic diseases [RCV004022002] Chr5:77211205 [GRCh38]
Chr5:76507030 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*694_*696del deletion Striatal Degeneration [RCV000360655] Chr5:77427246..77427248 [GRCh38]
Chr5:76723071..76723073 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*1265G>A single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001151748] Chr5:77427819 [GRCh38]
Chr5:76723644 [GRCh37]
Chr5:5q13.3
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_003719.5(PDE8B):c.671C>T (p.Ala224Val) single nucleotide variant not specified [RCV003317847] Chr5:77331422 [GRCh38]
Chr5:76627247 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.334G>A (p.Val112Met) single nucleotide variant Inborn genetic diseases [RCV003308509] Chr5:77211259 [GRCh38]
Chr5:76507084 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh37/hg19 5q13.3(chr5:76159960-76718626)x3 copy number gain not provided [RCV000682569] Chr5:76159960..76718626 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_003719.5(PDE8B):c.2055G>A (p.Glu685=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001155415]|not provided [RCV000896309] Chr5:77418372 [GRCh38]
Chr5:76714197 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.95T>C (p.Val32Ala) single nucleotide variant not provided [RCV001543553] Chr5:77211020 [GRCh38]
Chr5:76506845 [GRCh37]
Chr5:5q13.3
pathogenic
NM_003719.5(PDE8B):c.1560G>A (p.Glu520=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001155413]|not provided [RCV000896782] Chr5:77411705 [GRCh38]
Chr5:76707530 [GRCh37]
Chr5:5q13.3
benign|likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_003719.5(PDE8B):c.1289-6C>T single nucleotide variant not provided [RCV000903372] Chr5:77407375 [GRCh38]
Chr5:76703200 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1875C>T (p.His625=) single nucleotide variant not provided [RCV000900740] Chr5:77413273 [GRCh38]
Chr5:76709098 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1289-8C>T single nucleotide variant not provided [RCV000906079] Chr5:77407373 [GRCh38]
Chr5:76703198 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.1416G>A (p.Ala472=) single nucleotide variant not provided [RCV000902506] Chr5:77408943 [GRCh38]
Chr5:76704768 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1533C>T (p.Asp511=) single nucleotide variant PDE8B-related disorder [RCV003955788]|not provided [RCV000879294] Chr5:77411678 [GRCh38]
Chr5:76707503 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1383T>C (p.Asn461=) single nucleotide variant not provided [RCV000903693] Chr5:77408910 [GRCh38]
Chr5:76704735 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.339+8C>A single nucleotide variant not provided [RCV000932999] Chr5:77211272 [GRCh38]
Chr5:76507097 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.654G>A (p.Ser218=) single nucleotide variant not provided [RCV000894254] Chr5:77331405 [GRCh38]
Chr5:76627230 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1056G>A (p.Gly352=) single nucleotide variant not provided [RCV000943100] Chr5:77351103 [GRCh38]
Chr5:76646928 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.2499G>A (p.Gln833=) single nucleotide variant not provided [RCV000898026] Chr5:77425847 [GRCh38]
Chr5:76721672 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1107-6T>A single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001151563]|not provided [RCV002558313] Chr5:77353340 [GRCh38]
Chr5:76649165 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.*1304G>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001151749] Chr5:77427858 [GRCh38]
Chr5:76723683 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh37/hg19 5q13.3(chr5:76683620-76810358)x3 copy number gain not provided [RCV000850000] Chr5:76683620..76810358 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2649dup (p.Asp884Ter) duplication Autosomal dominant striatal neurodegeneration type 1 [RCV001196614] Chr5:77426544..77426545 [GRCh38]
Chr5:76722369..76722370 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.593C>T (p.Ser198Leu) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001156981]|Inborn genetic diseases [RCV004649469]|not provided [RCV001882494] Chr5:77329000 [GRCh38]
Chr5:76624825 [GRCh37]
Chr5:5q13.3
benign|uncertain significance
NM_003719.5(PDE8B):c.1001G>A (p.Cys334Tyr) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001151562]|not provided [RCV004773300] Chr5:77349543 [GRCh38]
Chr5:76645368 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1211A>T (p.Glu404Val) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001151565] Chr5:77404720 [GRCh38]
Chr5:76700545 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.306G>A (p.Glu102=) single nucleotide variant PDE8B-related disorder [RCV003953333]|not provided [RCV000973933] Chr5:77211231 [GRCh38]
Chr5:76507056 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2538T>C (p.Asp846=) single nucleotide variant not provided [RCV000925167] Chr5:77425886 [GRCh38]
Chr5:76721711 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1248G>A (p.Glu416=) single nucleotide variant not provided [RCV000909246] Chr5:77404757 [GRCh38]
Chr5:76700582 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2541T>C (p.Ala847=) single nucleotide variant not provided [RCV000977781] Chr5:77425889 [GRCh38]
Chr5:76721714 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1138C>T (p.Leu380=) single nucleotide variant not provided [RCV000940346] Chr5:77353377 [GRCh38]
Chr5:76649202 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1461G>A (p.Leu487=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001154578] Chr5:77408988 [GRCh38]
Chr5:76704813 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*445G>A single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001154694] Chr5:77426999 [GRCh38]
Chr5:76722824 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.796C>T (p.Arg266Trp) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001156982] Chr5:77337314 [GRCh38]
Chr5:76633139 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2139T>C (p.Tyr713=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001157097]|not provided [RCV001859022] Chr5:77419776 [GRCh38]
Chr5:76715601 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_003719.5(PDE8B):c.*1139A>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001157212] Chr5:77427693 [GRCh38]
Chr5:76723518 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.878A>G (p.Tyr293Cys) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001197361] Chr5:77349420 [GRCh38]
Chr5:76645245 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1031T>G (p.Val344Gly) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV000987528] Chr5:77351078 [GRCh38]
Chr5:76646903 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1276C>T (p.Arg426Ter) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV003234861] Chr5:77404785 [GRCh38]
Chr5:76700610 [GRCh37]
Chr5:5q13.3
likely pathogenic
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15
pathogenic
NM_003719.5(PDE8B):c.*1050T>C single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001157211] Chr5:77427604 [GRCh38]
Chr5:76723429 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*1204C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001151746] Chr5:77427758 [GRCh38]
Chr5:76723583 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*1254T>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001151747] Chr5:77427808 [GRCh38]
Chr5:76723633 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.-44C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001154477] Chr5:77210882 [GRCh38]
Chr5:76506707 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.94del (p.Val32fs) deletion not provided [RCV001543478] Chr5:77211019 [GRCh38]
Chr5:76506844 [GRCh37]
Chr5:5q13.3
pathogenic
NM_003719.5(PDE8B):c.*1575G>A single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001151750] Chr5:77428129 [GRCh38]
Chr5:76723954 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.-19G>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001155309] Chr5:77210907 [GRCh38]
Chr5:76506732 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.876+15C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001151561] Chr5:77344946 [GRCh38]
Chr5:76640771 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1207A>G (p.Thr403Ala) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001151564] Chr5:77400287 [GRCh38]
Chr5:76696112 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*30G>A single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001151649] Chr5:77426584 [GRCh38]
Chr5:76722409 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1576+4A>G single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001197205] Chr5:77411725 [GRCh38]
Chr5:76707550 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*341C>T single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001154693] Chr5:77426895 [GRCh38]
Chr5:76722720 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.*498C>A single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001155525]|not provided [RCV004694981] Chr5:77427052 [GRCh38]
Chr5:76722877 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1447C>T (p.Arg483Trp) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001154577]|Inborn genetic diseases [RCV002558340] Chr5:77408974 [GRCh38]
Chr5:76704799 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1831T>G (p.Ser611Ala) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001155414] Chr5:77413229 [GRCh38]
Chr5:76709054 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.570C>T (p.Phe190=) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001156980] Chr5:77325709 [GRCh38]
Chr5:76621534 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.*865G>A single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001157210] Chr5:77427419 [GRCh38]
Chr5:76723244 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.211C>T (p.Arg71Cys) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV001253653] Chr5:77211136 [GRCh38]
Chr5:76506961 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2331dup (p.Lys778Ter) duplication not provided [RCV001310510] Chr5:77421899..77421900 [GRCh38]
Chr5:76717724..76717725 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_003719.5(PDE8B):c.4G>A (p.Gly2Ser) single nucleotide variant not provided [RCV001755271] Chr5:77210929 [GRCh38]
Chr5:76506754 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2236C>T (p.Pro746Ser) single nucleotide variant not provided [RCV001758896] Chr5:77419873 [GRCh38]
Chr5:76715698 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.143A>T (p.Asp48Val) single nucleotide variant not provided [RCV001983817] Chr5:77211068 [GRCh38]
Chr5:76506893 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1306C>T (p.Arg436Cys) single nucleotide variant not provided [RCV002040886] Chr5:77407398 [GRCh38]
Chr5:76703223 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1911+4G>A single nucleotide variant not provided [RCV002005294] Chr5:77413313 [GRCh38]
Chr5:76709138 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1365+10G>A single nucleotide variant not provided [RCV002002583] Chr5:77407467 [GRCh38]
Chr5:76703292 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.193G>C (p.Ala65Pro) single nucleotide variant not provided [RCV002041004] Chr5:77211118 [GRCh38]
Chr5:76506943 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.764A>C (p.Glu255Ala) single nucleotide variant Inborn genetic diseases [RCV002571326]|not provided [RCV001969215] Chr5:77337282 [GRCh38]
Chr5:76633107 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2418+17G>A single nucleotide variant not provided [RCV001985693] Chr5:77422005 [GRCh38]
Chr5:76717830 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_003719.5(PDE8B):c.107C>G (p.Pro36Arg) single nucleotide variant not provided [RCV002005659] Chr5:77211032 [GRCh38]
Chr5:76506857 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2559T>G (p.His853Gln) single nucleotide variant not provided [RCV001992243] Chr5:77426455 [GRCh38]
Chr5:76722280 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2401G>A (p.Glu801Lys) single nucleotide variant not provided [RCV001944624] Chr5:77421971 [GRCh38]
Chr5:76717796 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.181C>A (p.Pro61Thr) single nucleotide variant not provided [RCV002012755] Chr5:77211106 [GRCh38]
Chr5:76506931 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.487C>T (p.Arg163Trp) single nucleotide variant not provided [RCV001933687] Chr5:77325626 [GRCh38]
Chr5:76621451 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.19A>T (p.Ile7Phe) single nucleotide variant not provided [RCV001995749] Chr5:77210944 [GRCh38]
Chr5:76506769 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2144C>T (p.Thr715Met) single nucleotide variant PDE8B-related disorder [RCV003978454]|not provided [RCV001991861] Chr5:77419781 [GRCh38]
Chr5:76715606 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_003719.5(PDE8B):c.329C>T (p.Thr110Ile) single nucleotide variant not provided [RCV002019735] Chr5:77211254 [GRCh38]
Chr5:76507079 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.354G>A (p.Ala118=) single nucleotide variant not provided [RCV001952534] Chr5:77312008 [GRCh38]
Chr5:76607833 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2286G>C (p.Gly762=) single nucleotide variant not provided [RCV002088848] Chr5:77421856 [GRCh38]
Chr5:76717681 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1912-10C>T single nucleotide variant not provided [RCV002129270] Chr5:77418219 [GRCh38]
Chr5:76714044 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1632C>T (p.Pro544=) single nucleotide variant not provided [RCV002210214] Chr5:77412155 [GRCh38]
Chr5:76707980 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1366-20T>C single nucleotide variant not provided [RCV002126454] Chr5:77408873 [GRCh38]
Chr5:76704698 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.339+15C>G single nucleotide variant not provided [RCV002148615] Chr5:77211279 [GRCh38]
Chr5:76507104 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1497= (p.Pro499=) variation not provided [RCV002187476] Chr5:77409024 [GRCh38]
Chr5:76704849 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.1167+11A>G single nucleotide variant not provided [RCV002174170] Chr5:77353417 [GRCh38]
Chr5:76649242 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.615C>T (p.Ser205=) single nucleotide variant not provided [RCV002112556] Chr5:77329022 [GRCh38]
Chr5:76624847 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1962C>T (p.Val654=) single nucleotide variant not provided [RCV002078507] Chr5:77418279 [GRCh38]
Chr5:76714104 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1366-6C>T single nucleotide variant not provided [RCV002127187] Chr5:77408887 [GRCh38]
Chr5:76704712 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1366-14C>T single nucleotide variant not provided [RCV002129133] Chr5:77408879 [GRCh38]
Chr5:76704704 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.87C>T (p.Thr29=) single nucleotide variant not provided [RCV002195272] Chr5:77211012 [GRCh38]
Chr5:76506837 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1221A>G (p.Ser407=) single nucleotide variant not provided [RCV002201423] Chr5:77404730 [GRCh38]
Chr5:76700555 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1912-13C>T single nucleotide variant not provided [RCV002139061] Chr5:77418216 [GRCh38]
Chr5:76714041 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2607G>A (p.Lys869=) single nucleotide variant not provided [RCV002201808] Chr5:77426503 [GRCh38]
Chr5:76722328 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1018-9T>C single nucleotide variant not provided [RCV002199225] Chr5:77351056 [GRCh38]
Chr5:76646881 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2400T>C (p.Ser800=) single nucleotide variant not provided [RCV002154217] Chr5:77421970 [GRCh38]
Chr5:76717795 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.818C>T (p.Thr273Ile) single nucleotide variant not provided [RCV002254112] Chr5:77344873 [GRCh38]
Chr5:76640698 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.930G>A (p.Leu310=) single nucleotide variant not provided [RCV002137218] Chr5:77349472 [GRCh38]
Chr5:76645297 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2548+15G>A single nucleotide variant not provided [RCV002157631] Chr5:77425911 [GRCh38]
Chr5:76721736 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.339+40123C>T single nucleotide variant not provided [RCV002122190] Chr5:77251387 [GRCh38]
Chr5:76547212 [GRCh37]
Chr5:5q13.3
benign
NC_000005.9:g.(?_76115008)_(78281071_?)del deletion Hermansky-Pudlak syndrome 2 [RCV003113301] Chr5:76115008..78281071 [GRCh37]
Chr5:5q13.3-14.1
pathogenic
NM_003719.5(PDE8B):c.783C>T (p.Ser261=) single nucleotide variant not provided [RCV003112476] Chr5:77337301 [GRCh38]
Chr5:76633126 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.971G>A (p.Arg324Gln) single nucleotide variant not provided [RCV003114149] Chr5:77349513 [GRCh38]
Chr5:76645338 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.465T>C (p.Ala155=) single nucleotide variant not provided [RCV003118663] Chr5:77325604 [GRCh38]
Chr5:76621429 [GRCh37]
Chr5:5q13.3
likely benign
GRCh37/hg19 5q13.3(chr5:76239549-76720244)x3 copy number gain not provided [RCV002474591] Chr5:76239549..76720244 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1355C>T (p.Pro452Leu) single nucleotide variant not provided [RCV002300380] Chr5:77407447 [GRCh38]
Chr5:76703272 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1384G>A (p.Ala462Thr) single nucleotide variant not provided [RCV002304036] Chr5:77408911 [GRCh38]
Chr5:76704736 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2419-8del deletion not provided [RCV002862610] Chr5:77425754 [GRCh38]
Chr5:76721579 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.73T>G (p.Ser25Ala) single nucleotide variant Inborn genetic diseases [RCV002816853] Chr5:77210998 [GRCh38]
Chr5:76506823 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1334A>G (p.His445Arg) single nucleotide variant Inborn genetic diseases [RCV002817142] Chr5:77407426 [GRCh38]
Chr5:76703251 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.400-19C>T single nucleotide variant not provided [RCV002750968] Chr5:77325520 [GRCh38]
Chr5:76621345 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1030G>A (p.Val344Ile) single nucleotide variant not provided [RCV003095785] Chr5:77351077 [GRCh38]
Chr5:76646902 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.601G>T (p.Ala201Ser) single nucleotide variant Inborn genetic diseases [RCV002773024] Chr5:77329008 [GRCh38]
Chr5:76624833 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.435C>G (p.Ser145Arg) single nucleotide variant Inborn genetic diseases [RCV002840336] Chr5:77325574 [GRCh38]
Chr5:76621399 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.205A>G (p.Arg69Gly) single nucleotide variant not provided [RCV002461872] Chr5:77211130 [GRCh38]
Chr5:76506955 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.229G>A (p.Gly77Ser) single nucleotide variant not provided [RCV002927756] Chr5:77211154 [GRCh38]
Chr5:76506979 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1289-12C>T single nucleotide variant not provided [RCV002696265] Chr5:77407369 [GRCh38]
Chr5:76703194 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.574G>A (p.Ala192Thr) single nucleotide variant Inborn genetic diseases [RCV002886866] Chr5:77325713 [GRCh38]
Chr5:76621538 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1365+9C>T single nucleotide variant not provided [RCV002622771] Chr5:77407466 [GRCh38]
Chr5:76703291 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1053C>T (p.Ser351=) single nucleotide variant not provided [RCV002591934] Chr5:77351100 [GRCh38]
Chr5:76646925 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.736G>T (p.Ala246Ser) single nucleotide variant Inborn genetic diseases [RCV002888278] Chr5:77337254 [GRCh38]
Chr5:76633079 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1827C>G (p.His609Gln) single nucleotide variant Inborn genetic diseases [RCV002949956] Chr5:77413225 [GRCh38]
Chr5:76709050 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.169C>G (p.Arg57Gly) single nucleotide variant Inborn genetic diseases [RCV002691391] Chr5:77211094 [GRCh38]
Chr5:76506919 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1857T>C (p.His619=) single nucleotide variant not provided [RCV002576343] Chr5:77413255 [GRCh38]
Chr5:76709080 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2232C>T (p.Asn744=) single nucleotide variant not provided [RCV002666993] Chr5:77419869 [GRCh38]
Chr5:76715694 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.935A>G (p.Lys312Arg) single nucleotide variant Inborn genetic diseases [RCV002712739] Chr5:77349477 [GRCh38]
Chr5:76645302 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1168-9C>T single nucleotide variant PDE8B-related disorder [RCV003936322]|not provided [RCV002800653] Chr5:77400239 [GRCh38]
Chr5:76696064 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.876+14C>G single nucleotide variant not provided [RCV002741070] Chr5:77344945 [GRCh38]
Chr5:76640770 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1289-18T>G single nucleotide variant not provided [RCV002572313] Chr5:77407363 [GRCh38]
Chr5:76703188 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2646_2649del (p.Ser883fs) deletion not provided [RCV003040729] Chr5:77426542..77426545 [GRCh38]
Chr5:76722367..76722370 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1107-12A>G single nucleotide variant not provided [RCV002871663] Chr5:77353334 [GRCh38]
Chr5:76649159 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.384G>A (p.Thr128=) single nucleotide variant not provided [RCV002602256] Chr5:77312038 [GRCh38]
Chr5:76607863 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2130-20T>C single nucleotide variant not provided [RCV002597406] Chr5:77419747 [GRCh38]
Chr5:76715572 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.183C>G (p.Pro61=) single nucleotide variant not provided [RCV002671032] Chr5:77211108 [GRCh38]
Chr5:76506933 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.70A>G (p.Ser24Gly) single nucleotide variant not provided [RCV003009862] Chr5:77210995 [GRCh38]
Chr5:76506820 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1547T>G (p.Leu516Arg) single nucleotide variant Inborn genetic diseases [RCV002920209] Chr5:77411692 [GRCh38]
Chr5:76707517 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2129+7T>C single nucleotide variant not provided [RCV002806495] Chr5:77418453 [GRCh38]
Chr5:76714278 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1324G>A (p.Ala442Thr) single nucleotide variant not provided [RCV003029081] Chr5:77407416 [GRCh38]
Chr5:76703241 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1107-15A>T single nucleotide variant not provided [RCV002581207] Chr5:77353331 [GRCh38]
Chr5:76649156 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1365+4A>G single nucleotide variant not provided [RCV002647567] Chr5:77407461 [GRCh38]
Chr5:76703286 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1210+8T>C single nucleotide variant not provided [RCV002650859] Chr5:77400298 [GRCh38]
Chr5:76696123 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.661C>T (p.His221Tyr) single nucleotide variant Inborn genetic diseases [RCV002808031] Chr5:77331412 [GRCh38]
Chr5:76627237 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.535A>C (p.Ile179Leu) single nucleotide variant not provided [RCV002963354] Chr5:77325674 [GRCh38]
Chr5:76621499 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.218A>C (p.Glu73Ala) single nucleotide variant not provided [RCV002601183] Chr5:77211143 [GRCh38]
Chr5:76506968 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2463G>A (p.Val821=) single nucleotide variant not provided [RCV002716428] Chr5:77425811 [GRCh38]
Chr5:76721636 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2290A>G (p.Asn764Asp) single nucleotide variant not provided [RCV002746466] Chr5:77421860 [GRCh38]
Chr5:76717685 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2140C>A (p.Arg714=) single nucleotide variant not provided [RCV002654455] Chr5:77419777 [GRCh38]
Chr5:76715602 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.399+4C>T single nucleotide variant not provided [RCV002658190] Chr5:77312057 [GRCh38]
Chr5:76607882 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2318A>G (p.Lys773Arg) single nucleotide variant not provided [RCV002653284] Chr5:77421888 [GRCh38]
Chr5:76717713 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.571G>A (p.Asp191Asn) single nucleotide variant not provided [RCV002653963] Chr5:77325710 [GRCh38]
Chr5:76621535 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.798-13T>C single nucleotide variant not provided [RCV002586111] Chr5:77344840 [GRCh38]
Chr5:76640665 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.694G>T (p.Ala232Ser) single nucleotide variant Inborn genetic diseases [RCV002612685]|not provided [RCV002590295] Chr5:77331445 [GRCh38]
Chr5:76627270 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.326A>G (p.Tyr109Cys) single nucleotide variant Inborn genetic diseases [RCV002723861] Chr5:77211251 [GRCh38]
Chr5:76507076 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1712+16G>C single nucleotide variant not provided [RCV002589129] Chr5:77412251 [GRCh38]
Chr5:76708076 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.650+13C>T single nucleotide variant not provided [RCV002589343] Chr5:77329070 [GRCh38]
Chr5:76624895 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2136T>C (p.His712=) single nucleotide variant not provided [RCV003131893] Chr5:77419773 [GRCh38]
Chr5:76715598 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2242G>A (p.Ala748Thr) single nucleotide variant Inborn genetic diseases [RCV003181334] Chr5:77419879 [GRCh38]
Chr5:76715704 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1196A>T (p.Asp399Val) single nucleotide variant not provided [RCV003322061] Chr5:77400276 [GRCh38]
Chr5:76696101 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.328_329del (p.Thr110fs) microsatellite Inborn genetic diseases [RCV003378681] Chr5:77211251..77211252 [GRCh38]
Chr5:76507076..76507077 [GRCh37]
Chr5:5q13.3
pathogenic
NM_003719.5(PDE8B):c.647G>A (p.Arg216Gln) single nucleotide variant Inborn genetic diseases [RCV003344368] Chr5:77329054 [GRCh38]
Chr5:76624879 [GRCh37]
Chr5:5q13.3
likely benign
GRCh37/hg19 5q13.3-14.1(chr5:76635144-77156308)x1 copy number loss not provided [RCV003485467] Chr5:76635144..77156308 [GRCh37]
Chr5:5q13.3-14.1
uncertain significance
NM_003719.5(PDE8B):c.1113T>C (p.Ile371=) single nucleotide variant not provided [RCV003436436] Chr5:77353352 [GRCh38]
Chr5:76649177 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2129+17C>T single nucleotide variant not specified [RCV003404790] Chr5:77418463 [GRCh38]
Chr5:76714288 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.208G>T (p.Ala70Ser) single nucleotide variant not provided [RCV003436435] Chr5:77211133 [GRCh38]
Chr5:76506958 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1908A>G (p.Val636=) single nucleotide variant not provided [RCV003436437] Chr5:77413306 [GRCh38]
Chr5:76709131 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.224G>A (p.Gly75Asp) single nucleotide variant not provided [RCV003443545] Chr5:77211149 [GRCh38]
Chr5:76506974 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1128G>A (p.Ser376=) single nucleotide variant not provided [RCV003828161] Chr5:77353367 [GRCh38]
Chr5:76649192 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.653C>T (p.Ser218Leu) single nucleotide variant not provided [RCV003547634] Chr5:77331404 [GRCh38]
Chr5:76627229 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2166C>T (p.Asp722=) single nucleotide variant not provided [RCV003715905] Chr5:77419803 [GRCh38]
Chr5:76715628 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.94G>A (p.Val32Met) single nucleotide variant not provided [RCV003575318] Chr5:77211019 [GRCh38]
Chr5:76506844 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1168-17C>A single nucleotide variant not provided [RCV003714984] Chr5:77400231 [GRCh38]
Chr5:76696056 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.868G>A (p.Val290Met) single nucleotide variant not provided [RCV003826698] Chr5:77344923 [GRCh38]
Chr5:76640748 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.63C>A (p.Asp21Glu) single nucleotide variant not provided [RCV003661574] Chr5:77210988 [GRCh38]
Chr5:76506813 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2089G>A (p.Val697Ile) single nucleotide variant not provided [RCV003545559] Chr5:77418406 [GRCh38]
Chr5:76714231 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1712+18C>A single nucleotide variant not provided [RCV003835878] Chr5:77412253 [GRCh38]
Chr5:76708078 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.247G>C (p.Ala83Pro) single nucleotide variant not provided [RCV003548222] Chr5:77211172 [GRCh38]
Chr5:76506997 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1035C>T (p.Tyr345=) single nucleotide variant not provided [RCV003815112] Chr5:77351082 [GRCh38]
Chr5:76646907 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1210+18G>C single nucleotide variant not provided [RCV003672288] Chr5:77400308 [GRCh38]
Chr5:76696133 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1622A>G (p.Asn541Ser) single nucleotide variant not provided [RCV003833030] Chr5:77412145 [GRCh38]
Chr5:76707970 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1097del (p.Gly366fs) deletion not provided [RCV003723375] Chr5:77351143 [GRCh38]
Chr5:76646968 [GRCh37]
Chr5:5q13.3
pathogenic
NM_003719.5(PDE8B):c.21C>A (p.Ile7=) single nucleotide variant not provided [RCV003670926] Chr5:77210946 [GRCh38]
Chr5:76506771 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.877-19A>G single nucleotide variant not provided [RCV003815120] Chr5:77349400 [GRCh38]
Chr5:76645225 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.798-12T>G single nucleotide variant not provided [RCV003838725] Chr5:77344841 [GRCh38]
Chr5:76640666 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.497A>C (p.Glu166Ala) single nucleotide variant not provided [RCV003836294] Chr5:77325636 [GRCh38]
Chr5:76621461 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1107-18C>T single nucleotide variant not provided [RCV003821770] Chr5:77353328 [GRCh38]
Chr5:76649153 [GRCh37]
Chr5:5q13.3
benign
NM_003719.5(PDE8B):c.2250+10G>A single nucleotide variant not provided [RCV003821662] Chr5:77419897 [GRCh38]
Chr5:76715722 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1639A>G (p.Ile547Val) single nucleotide variant not provided [RCV003681492] Chr5:77412162 [GRCh38]
Chr5:76707987 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2067C>T (p.Thr689=) single nucleotide variant not provided [RCV003821450] Chr5:77418384 [GRCh38]
Chr5:76714209 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1760G>A (p.Cys587Tyr) single nucleotide variant not provided [RCV003844599] Chr5:77413158 [GRCh38]
Chr5:76708983 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2549-16T>A single nucleotide variant not provided [RCV003675367] Chr5:77426429 [GRCh38]
Chr5:76722254 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.84G>A (p.Gln28=) single nucleotide variant not provided [RCV003843052] Chr5:77211009 [GRCh38]
Chr5:76506834 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.78C>A (p.Pro26=) single nucleotide variant not provided [RCV003843051] Chr5:77211003 [GRCh38]
Chr5:76506828 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.1335C>T (p.His445=) single nucleotide variant not provided [RCV003704482] Chr5:77407427 [GRCh38]
Chr5:76703252 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.256G>A (p.Ala86Thr) single nucleotide variant Inborn genetic diseases [RCV004371935]|not specified [RCV003995072] Chr5:77211181 [GRCh38]
Chr5:76507006 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.129C>T (p.Leu43=) single nucleotide variant not specified [RCV003988576] Chr5:77211054 [GRCh38]
Chr5:76506879 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.895G>T (p.Glu299Ter) single nucleotide variant PDE8B-Related Disorders [RCV004579632] Chr5:77349437 [GRCh38]
Chr5:76645262 [GRCh37]
Chr5:5q13.3
pathogenic
NM_003719.5(PDE8B):c.1577-5C>T single nucleotide variant PDE8B-related disorder [RCV003937311] Chr5:77412095 [GRCh38]
Chr5:76707920 [GRCh37]
Chr5:5q13.3
likely benign
NM_003719.5(PDE8B):c.2117A>G (p.Lys706Arg) single nucleotide variant PDE8B-related disorder [RCV003901404] Chr5:77418434 [GRCh38]
Chr5:76714259 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.133G>C (p.Val45Leu) single nucleotide variant Autosomal dominant striatal neurodegeneration type 1 [RCV004720677] Chr5:77211058 [GRCh38]
Chr5:76506883 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2065A>G (p.Thr689Ala) single nucleotide variant Inborn genetic diseases [RCV004503200] Chr5:77418382 [GRCh38]
Chr5:76714207 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.811G>C (p.Val271Leu) single nucleotide variant Inborn genetic diseases [RCV004503203] Chr5:77344866 [GRCh38]
Chr5:76640691 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1444T>G (p.Leu482Val) single nucleotide variant Inborn genetic diseases [RCV004659676] Chr5:77408971 [GRCh38]
Chr5:76704796 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.2344G>A (p.Val782Met) single nucleotide variant Inborn genetic diseases [RCV004503201] Chr5:77421914 [GRCh38]
Chr5:76717739 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.277C>G (p.Arg93Gly) single nucleotide variant Inborn genetic diseases [RCV004503202] Chr5:77211202 [GRCh38]
Chr5:76507027 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.11C>T (p.Ala4Val) single nucleotide variant Inborn genetic diseases [RCV004503199] Chr5:77210936 [GRCh38]
Chr5:76506761 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.176C>G (p.Ser59Trp) single nucleotide variant Inborn genetic diseases [RCV004659677] Chr5:77211101 [GRCh38]
Chr5:76506926 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.674C>T (p.Ser225Leu) single nucleotide variant Inborn genetic diseases [RCV004655510] Chr5:77331425 [GRCh38]
Chr5:76627250 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.63C>G (p.Asp21Glu) single nucleotide variant Inborn genetic diseases [RCV004655507] Chr5:77210988 [GRCh38]
Chr5:76506813 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1301A>G (p.Gln434Arg) single nucleotide variant Inborn genetic diseases [RCV004655508] Chr5:77407393 [GRCh38]
Chr5:76703218 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1168A>G (p.Ile390Val) single nucleotide variant Inborn genetic diseases [RCV004659678] Chr5:77400248 [GRCh38]
Chr5:76696073 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.148G>A (p.Ala50Thr) single nucleotide variant Inborn genetic diseases [RCV004659679] Chr5:77211073 [GRCh38]
Chr5:76506898 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.457G>A (p.Asp153Asn) single nucleotide variant Inborn genetic diseases [RCV004659680] Chr5:77325596 [GRCh38]
Chr5:76621421 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1703C>T (p.Thr568Met) single nucleotide variant not provided [RCV004771332] Chr5:77412226 [GRCh38]
Chr5:76708051 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1577-2A>C single nucleotide variant not provided [RCV004765996] Chr5:77412098 [GRCh38]
Chr5:76707923 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_003719.5(PDE8B):c.1480A>G (p.Thr494Ala) single nucleotide variant not provided [RCV004764201]   uncertain significance
NM_003719.5(PDE8B):c.1720G>T (p.Val574Phe) single nucleotide variant PDE8B-related disorder [RCV004757642] Chr5:77413118 [GRCh38]
Chr5:76708943 [GRCh37]
Chr5:5q13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3697
Count of miRNA genes:1052
Interacting mature miRNAs:1269
Transcripts:ENST00000264917, ENST00000333194, ENST00000340978, ENST00000342343, ENST00000346042, ENST00000502945, ENST00000503963, ENST00000505283, ENST00000505926
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406981698GWAS630674_Htype 2 diabetes mellitus QTL GWAS630674 (human)5e-29type 2 diabetes mellitus57713148677131487Human
407037762GWAS686738_Hbody mass index QTL GWAS686738 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)57732091377320914Human
406960192GWAS609168_HHbA1c measurement QTL GWAS609168 (human)9e-10HbA1c measurementblood hemoglobin A1c level (CMO:0002786)57714972477149725Human
406964035GWAS613011_Herythrocyte count QTL GWAS613011 (human)5e-14erythrocyte countred blood cell count (CMO:0000025)57718259377182594Human
406952517GWAS601493_Htype 2 diabetes mellitus QTL GWAS601493 (human)5e-11type 2 diabetes mellitus57713148677131487Human
406952516GWAS601492_Htype 2 diabetes mellitus QTL GWAS601492 (human)3e-10type 2 diabetes mellitus57713148677131487Human
406987077GWAS636053_Htype 2 diabetes mellitus QTL GWAS636053 (human)6e-18type 2 diabetes mellitus57713917977139180Human
406980165GWAS629141_Hhemoglobin measurement QTL GWAS629141 (human)8e-18hemoglobin measurementhemoglobin measurement (CMO:0000508)57718400877184009Human
406967369GWAS616345_Htestosterone measurement QTL GWAS616345 (human)0.000007testosterone measurementserum testosterone level (CMO:0000568)57716588177165882Human
406976585GWAS625561_Herythrocyte count QTL GWAS625561 (human)7e-10erythrocyte countred blood cell count (CMO:0000025)57718199577181996Human
406980168GWAS629144_Hhemoglobin measurement QTL GWAS629144 (human)1e-19hemoglobin measurementhemoglobin measurement (CMO:0000508)57718259377182594Human
406981454GWAS630430_Hred blood cell density measurement QTL GWAS630430 (human)5e-15red blood cell density measurement57718259377182594Human
406967373GWAS616349_Htestosterone measurement QTL GWAS616349 (human)6e-11testosterone measurementserum testosterone level (CMO:0000568)57719278877192789Human
406981452GWAS630428_Hred blood cell density measurement QTL GWAS630428 (human)4e-16red blood cell density measurement57718204777182049Human
406944334GWAS593310_Hthyroid function QTL GWAS593310 (human)3e-27thyroid function57723998677239987Human
407270748GWAS919724_Hbody height QTL GWAS919724 (human)2e-29body height (VT:0001253)body height (CMO:0000106)57722261777222618Human
406959197GWAS608173_HHbA1c measurement QTL GWAS608173 (human)5e-20HbA1c measurementblood hemoglobin A1c level (CMO:0002786)57714342577143426Human
406988387GWAS637363_Htype 2 diabetes mellitus QTL GWAS637363 (human)3e-20type 2 diabetes mellitus57713917977139180Human
406948964GWAS597940_Hthyroid stimulating hormone measurement QTL GWAS597940 (human)7e-18thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57722604377226044Human
406987114GWAS636090_Hthyroid stimulating hormone measurement QTL GWAS636090 (human)7e-781thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57723998677239987Human
406987115GWAS636091_Hthyroid stimulating hormone measurement QTL GWAS636091 (human)4e-335thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57724844077248444Human
406952811GWAS601787_HBMI-adjusted waist-hip ratio QTL GWAS601787 (human)7e-15BMI-adjusted waist-hip ratio57715027877150279Human
406987113GWAS636089_Hthyroid stimulating hormone measurement QTL GWAS636089 (human)1e-279thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57718199577181996Human
406959725GWAS608701_Hthyroid stimulating hormone measurement QTL GWAS608701 (human)7e-21thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57723821377238214Human
406963308GWAS612284_Heosinophil percentage of leukocytes QTL GWAS612284 (human)1e-13eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)57725386377253864Human
406943343GWAS592319_Hhypothyroidism QTL GWAS592319 (human)0.000002hypothyroidism57722261777222618Human
406987116GWAS636092_Hthyroid stimulating hormone measurement QTL GWAS636092 (human)5e-578thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57724891477248915Human
406942574GWAS591550_Hthyroid function QTL GWAS591550 (human)2e-20thyroid function57722261777222618Human
406983280GWAS632256_Hhemoglobin A1 measurement QTL GWAS632256 (human)7e-27hemoglobin A1 measurement57713148677131487Human
406981748GWAS630724_Hhemoglobin measurement QTL GWAS630724 (human)4e-16hemoglobin measurementhemoglobin measurement (CMO:0000508)57718063277180633Human
406977913GWAS626889_Hglucose measurement QTL GWAS626889 (human)1e-09glucose measurementblood glucose level (CMO:0000046)57713004277130043Human
406979963GWAS628939_Hhemoglobin measurement QTL GWAS628939 (human)7e-22hemoglobin measurementhemoglobin measurement (CMO:0000508)57718204777182049Human
406976891GWAS625867_Htestosterone measurement QTL GWAS625867 (human)9e-18testosterone measurementserum testosterone level (CMO:0000568)57716588177165882Human
406958849GWAS607825_HBMI-adjusted waist-hip ratio QTL GWAS607825 (human)1e-08BMI-adjusted waist-hip ratio57714463877144639Human
406977025GWAS626001_Hthyroid stimulating hormone measurement QTL GWAS626001 (human)2e-85thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57718199577181996Human
406967813GWAS616789_Htestosterone measurement QTL GWAS616789 (human)4e-10testosterone measurementserum testosterone level (CMO:0000568)57716588177165882Human
406944516GWAS593492_Hsmoking initiation QTL GWAS593492 (human)1e-10smoking initiation57741855577418556Human
406978055GWAS627031_Hheel bone mineral density, urate measurement QTL GWAS627031 (human)4e-08heel bone mineral density, urate measurementblood uric acid level (CMO:0000501)57742155177421552Human
407387648GWAS1036624_Hacute myeloid leukemia QTL GWAS1036624 (human)1e-10acute myeloid leukemia57737622377376224Human
406981135GWAS630111_Hfasting blood glucose measurement QTL GWAS630111 (human)0.000003fasting blood glucose measurementblood glucose level (CMO:0000046)57711064577110646Human
406967820GWAS616796_Htestosterone measurement QTL GWAS616796 (human)7e-15testosterone measurementserum testosterone level (CMO:0000568)57719278877192789Human
406981402GWAS630378_Hhemoglobin measurement QTL GWAS630378 (human)9e-13hemoglobin measurementhemoglobin measurement (CMO:0000508)57718400877184009Human
407162909GWAS811885_Hglucose measurement QTL GWAS811885 (human)2e-18glucose measurementblood glucose level (CMO:0000046)57712923577129236Human
406980380GWAS629356_Hdental caries QTL GWAS629356 (human)0.000002dental caries57716430977164310Human
406939423GWAS588399_HSjogren syndrome QTL GWAS588399 (human)0.000008Sjogren syndrome57732417777324178Human
406980381GWAS629357_Hdental caries QTL GWAS629357 (human)0.000001dental caries57716430977164310Human
406939424GWAS588400_HSjogren syndrome QTL GWAS588400 (human)0.000003Sjogren syndrome57729527677295277Human
406961957GWAS610933_HBMI-adjusted waist-hip ratio QTL GWAS610933 (human)2e-09BMI-adjusted waist-hip ratio57715794077157941Human
406969380GWAS618356_HBMI-adjusted waist-hip ratio QTL GWAS618356 (human)5e-08BMI-adjusted waist-hip ratio57714463877144639Human
406943012GWAS591988_Hhormone measurement, thyroid stimulating hormone measurement QTL GWAS591988 (human)6e-24hormone measurement, thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57723452477234525Human
406943015GWAS591991_Hhormone measurement, thyroid stimulating hormone measurement QTL GWAS591991 (human)3e-38hormone measurement, thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57723452477234525Human
406942502GWAS591478_Htype 2 diabetes mellitus QTL GWAS591478 (human)3e-12type 2 diabetes mellitus57712912477129125Human
406983979GWAS632955_Hglucose measurement QTL GWAS632955 (human)1e-14glucose measurementblood glucose level (CMO:0000046)57712923577129236Human
406943016GWAS591992_Hhormone measurement, thyroid stimulating hormone measurement QTL GWAS591992 (human)2e-26hormone measurement, thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57723452477234525Human
406980905GWAS629881_Hautoimmune thyroid disease QTL GWAS629881 (human)3e-12autoimmune thyroid disease57724794377247944Human
406981421GWAS630397_Hwaist-hip ratio QTL GWAS630397 (human)2e-10waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)57715794077157941Human
406958385GWAS607361_HHbA1c measurement QTL GWAS607361 (human)7e-08HbA1c measurementblood hemoglobin A1c level (CMO:0002786)57713917977139180Human
406968117GWAS617093_Hhandedness QTL GWAS617093 (human)7e-08handedness57720975177209752Human
406963509GWAS612485_HCOVID-19 QTL GWAS612485 (human)0.000002COVID-1957737959377379594Human
406986548GWAS635524_Htype 2 diabetes mellitus QTL GWAS635524 (human)4e-18type 2 diabetes mellitus57711692077116921Human
406970168GWAS619144_Hhemoglobin measurement QTL GWAS619144 (human)3e-12hemoglobin measurementhemoglobin measurement (CMO:0000508)57718400877184009Human
406987070GWAS636046_Herythrocyte count QTL GWAS636046 (human)1e-14erythrocyte countred blood cell count (CMO:0000025)57718259377182594Human
406952509GWAS601485_Hthyroid stimulating hormone measurement QTL GWAS601485 (human)4e-33thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57723998677239987Human
406979778GWAS628754_Hgut microbiome measurement QTL GWAS628754 (human)0.0000008gut microbiome measurement57740624077406241Human
406966978GWAS615954_Hbody mass index QTL GWAS615954 (human)0.000004body mass indexbody mass index (BMI) (CMO:0000105)57712726577127266Human
406941637GWAS590613_Htype 2 diabetes mellitus QTL GWAS590613 (human)5e-10type 2 diabetes mellitus57712912477129125Human
406962629GWAS611605_Hhematocrit QTL GWAS611605 (human)2e-19hematocrithematocrit (CMO:0000037)57718259377182594Human
406941636GWAS590612_Htype 2 diabetes mellitus QTL GWAS590612 (human)9e-11type 2 diabetes mellitus57712912477129125Human
406970823GWAS619799_Hhypothyroidism QTL GWAS619799 (human)1e-23hypothyroidism57723219777232198Human
406987725GWAS636701_HThyroid preparation use measurement QTL GWAS636701 (human)1e-10Thyroid preparation use measurement57724777877247779Human
407029970GWAS678946_Hfree androgen index QTL GWAS678946 (human)2e-10free androgen index57719283077192831Human
406970068GWAS619044_HHashimoto's thyroiditis QTL GWAS619044 (human)1e-15Hashimoto's thyroiditis57722237077222371Human
407047638GWAS696614_Heducational attainment QTL GWAS696614 (human)1e-08educational attainment57729562677295627Human
406970073GWAS619049_Hhypothyroidism QTL GWAS619049 (human)8e-22hypothyroidism57724833277248333Human
406963162GWAS612138_Hhematocrit QTL GWAS612138 (human)1e-21hematocrithematocrit (CMO:0000037)57718204777182049Human
406960609GWAS609585_Htype 2 diabetes mellitus QTL GWAS609585 (human)8e-18type 2 diabetes mellitus57712912477129125Human
406946273GWAS595249_Hwaist-hip ratio QTL GWAS595249 (human)9e-10waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)57730319777303198Human
406985707GWAS634683_Hhematocrit QTL GWAS634683 (human)9e-17hematocrithematocrit (CMO:0000037)57718259377182594Human
406988779GWAS637755_Hhypothyroidism QTL GWAS637755 (human)1e-28hypothyroidism57724794377247944Human
406948843GWAS597819_Hhypothyroidism QTL GWAS597819 (human)2e-09hypothyroidism57722604377226044Human
406948845GWAS597821_HBMI-adjusted waist-hip ratio QTL GWAS597821 (human)5e-12BMI-adjusted waist-hip ratio57713148677131487Human
406948844GWAS597820_Hhyperthyroidism QTL GWAS597820 (human)4e-22hyperthyroidism57723998677239987Human
406981360GWAS630336_Hfasting blood glucose measurement QTL GWAS630336 (human)0.000007fasting blood glucose measurementblood glucose level (CMO:0000046)57713004277130043Human
406964466GWAS613442_Htestosterone measurement QTL GWAS613442 (human)9e-11testosterone measurementserum testosterone level (CMO:0000568)57719603277196033Human
406964471GWAS613447_Htestosterone measurement QTL GWAS613447 (human)1e-14testosterone measurementserum testosterone level (CMO:0000568)57716588177165882Human
406981365GWAS630341_Heosinophil count QTL GWAS630341 (human)1e-17eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)57725386377253864Human
407387647GWAS1036623_Hacute myeloid leukemia QTL GWAS1036623 (human)4e-15acute myeloid leukemia57737622377376224Human
406943484GWAS592460_Hautism QTL GWAS592460 (human)0.000005autism57712121777121218Human
406958844GWAS607820_HBMI-adjusted waist-hip ratio QTL GWAS607820 (human)3e-08BMI-adjusted waist-hip ratio57713917977139180Human
406976899GWAS625875_Htype 2 diabetes mellitus QTL GWAS625875 (human)2e-32type 2 diabetes mellitus57713917977139180Human
406950791GWAS599767_Hhematocrit QTL GWAS599767 (human)1e-11hematocrithematocrit (CMO:0000037)57718400877184009Human
406976390GWAS625366_Htype 2 diabetes mellitus QTL GWAS625366 (human)1e-12type 2 diabetes mellitus57713148677131487Human
407028613GWAS677589_Htestosterone measurement QTL GWAS677589 (human)9e-15testosterone measurementserum testosterone level (CMO:0000568)57719283077192831Human
406979973GWAS628949_Hgut microbiome measurement QTL GWAS628949 (human)4e-08gut microbiome measurement57736160077361601Human
406976904GWAS625880_Htestosterone measurement QTL GWAS625880 (human)1e-11testosterone measurementserum testosterone level (CMO:0000568)57719278877192789Human
406962571GWAS611547_Heosinophil count QTL GWAS611547 (human)8e-17eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)57725702477257025Human
406962575GWAS611551_Heosinophil count QTL GWAS611551 (human)7e-16eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)57725386377253864Human
406962577GWAS611553_Heosinophil count QTL GWAS611553 (human)1e-15eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)57725386377253864Human
406970514GWAS619490_Htype 2 diabetes mellitus QTL GWAS619490 (human)2e-09Drugs used in diabetes use measurement57713148677131487Human
406894486GWAS543462_Hsmoking initiation QTL GWAS543462 (human)1e-09smoking initiation57742236277422363Human
406977177GWAS626153_Hthyroid stimulating hormone measurement QTL GWAS626153 (human)1e-269thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57723219777232198Human
406980259GWAS629235_Heosinophil count QTL GWAS629235 (human)6e-12eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)57725518577255186Human
406952866GWAS601842_Hwaist-hip ratio QTL GWAS601842 (human)5e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)57715027877150279Human
406962594GWAS611570_Hhypothyroidism QTL GWAS611570 (human)5e-13hypothyroidism57724777877247779Human
406953383GWAS602359_Hchronotype measurement QTL GWAS602359 (human)2e-09chronotype measurement57728543377285434Human
406952361GWAS601337_Hthyroid stimulating hormone measurement QTL GWAS601337 (human)6e-14thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)57718199577181996Human
406894504GWAS543480_Hsmoking initiation QTL GWAS543480 (human)7e-11smoking initiation57719242077192421Human
406892204GWAS541180_Hcircadian rhythm QTL GWAS541180 (human)0.000008circadian rhythm57741708277417083Human
407057581GWAS706557_Htestosterone measurement QTL GWAS706557 (human)8e-13testosterone measurementserum testosterone level (CMO:0000568)57719283077192831Human
406979764GWAS628740_Hhematocrit QTL GWAS628740 (human)2e-18hematocrithematocrit (CMO:0000037)57718400877184009Human
406976951GWAS625927_Htestosterone measurement QTL GWAS625927 (human)1e-25testosterone measurementserum testosterone level (CMO:0000568)57719278877192789Human
407101369GWAS750345_Hglucose measurement QTL GWAS750345 (human)1e-18glucose measurementblood glucose level (CMO:0000046)57712923577129236Human
406961597GWAS610573_Herythrocyte count QTL GWAS610573 (human)1e-11erythrocyte countred blood cell count (CMO:0000025)57718259377182594Human
406901436GWAS550412_Harginine measurement QTL GWAS550412 (human)0.000003arginine measurement57722074077220741Human
406998462GWAS647438_Hforced expiratory volume QTL GWAS647438 (human)4e-10forced expiratory volumeforced expiratory volume (CMO:0000254)57730206277302063Human
406980031GWAS629007_HSelf-injurious behavior QTL GWAS629007 (human)0.000001Self-injurious behavior57710907677109077Human
406976703GWAS625679_HThyroid preparation use measurement QTL GWAS625679 (human)6e-12Thyroid preparation use measurement57724777877247779Human
406959294GWAS608270_Hglucose measurement QTL GWAS608270 (human)2e-10glucose measurementblood glucose level (CMO:0000046)57714342577143426Human

Markers in Region
D5S2041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,673,752 - 76,673,977UniSTSGRCh37
Build 36576,709,508 - 76,709,733RGDNCBI36
Celera572,567,983 - 72,568,205RGD
Cytogenetic Map5q13.3UniSTS
HuRef571,880,208 - 71,880,435UniSTS
Marshfield Genetic Map581.95UniSTS
Marshfield Genetic Map581.95RGD
Genethon Genetic Map582.2UniSTS
deCODE Assembly Map591.88UniSTS
D5S1962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,808,097 - 76,808,295UniSTSGRCh37
Build 36576,843,853 - 76,844,051RGDNCBI36
Celera572,702,620 - 72,702,818RGD
Cytogenetic Map5q13-q22UniSTS
Cytogenetic Map5q13.3UniSTS
HuRef572,014,889 - 72,015,087UniSTS
Marshfield Genetic Map581.95RGD
Marshfield Genetic Map581.95UniSTS
Genethon Genetic Map582.8UniSTS
deCODE Assembly Map592.08UniSTS
Stanford-G3 RH Map52790.0UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5363.9UniSTS
GeneMap99-G3 RH Map52785.0UniSTS
L28264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,535,683 - 76,535,836UniSTSGRCh37
Build 36576,571,439 - 76,571,592RGDNCBI36
Celera572,429,913 - 72,430,066RGD
Cytogenetic Map5q13.3UniSTS
HuRef571,742,142 - 71,742,295UniSTS
SGC38064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,723,769 - 76,724,031UniSTSGRCh37
Build 36576,759,525 - 76,759,787RGDNCBI36
Celera572,618,302 - 72,618,564RGD
Cytogenetic Map5q13.3UniSTS
HuRef571,930,556 - 71,930,818UniSTS
GeneMap99-GB4 RH Map5366.36UniSTS
Whitehead-RH Map5269.5UniSTS
WI-15757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,722,509 - 76,722,636UniSTSGRCh37
Build 36576,758,265 - 76,758,392RGDNCBI36
Celera572,617,044 - 72,617,171RGD
Cytogenetic Map5q13.3UniSTS
HuRef571,929,298 - 71,929,425UniSTS
GeneMap99-GB4 RH Map5371.22UniSTS
Whitehead-RH Map5264.2UniSTS
RH91844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,724,077 - 76,724,213UniSTSGRCh37
Build 36576,759,833 - 76,759,969RGDNCBI36
Celera572,618,610 - 72,618,746RGD
Cytogenetic Map5q13.3UniSTS
HuRef571,930,864 - 71,931,000UniSTS
GeneMap99-GB4 RH Map5368.59UniSTS
RH121596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,632,651 - 76,632,981UniSTSGRCh37
Build 36576,668,407 - 76,668,737RGDNCBI36
Celera572,526,877 - 72,527,207RGD
Cytogenetic Map5q13.3UniSTS
HuRef571,839,106 - 71,839,436UniSTS
TNG Radiation Hybrid Map535755.0UniSTS
SHGC-147635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,557,778 - 76,558,055UniSTSGRCh37
Build 36576,593,534 - 76,593,811RGDNCBI36
Celera572,452,008 - 72,452,285RGD
Cytogenetic Map5q13.3UniSTS
HuRef571,764,231 - 71,764,508UniSTS
TNG Radiation Hybrid Map535706.0UniSTS
SHGC-111880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,515,044 - 76,515,350UniSTSGRCh37
Build 36576,550,800 - 76,551,106RGDNCBI36
Celera572,409,285 - 72,409,591RGD
Cytogenetic Map5q13.3UniSTS
HuRef571,721,512 - 71,721,818UniSTS
TNG Radiation Hybrid Map535692.0UniSTS
SHGC-107547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,551,568 - 76,551,850UniSTSGRCh37
Build 36576,587,324 - 76,587,606RGDNCBI36
Celera572,445,798 - 72,446,080RGD
Cytogenetic Map5q13.3UniSTS
HuRef571,758,027 - 71,758,309UniSTS
TNG Radiation Hybrid Map535701.0UniSTS
WI-15505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,722,722 - 76,722,847UniSTSGRCh37
Build 36576,758,478 - 76,758,603RGDNCBI36
Celera572,617,257 - 72,617,382RGD
Cytogenetic Map5q13.3UniSTS
HuRef571,929,511 - 71,929,636UniSTS
GeneMap99-GB4 RH Map5371.12UniSTS
Whitehead-RH Map5263.9UniSTS
NCBI RH Map5355.9UniSTS
D5S2464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,587,583 - 76,587,781UniSTSGRCh37
GRCh375125,880,503 - 125,880,702UniSTSGRCh37
Build 365125,908,402 - 125,908,601RGDNCBI36
Celera572,481,813 - 72,482,011RGD
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q13.3UniSTS
Cytogenetic Map5q31UniSTS
HuRef5121,071,206 - 121,071,405UniSTS
HuRef571,794,037 - 71,794,235UniSTS
GeneMap99-GB4 RH Map5370.82UniSTS
Whitehead-RH Map5270.0UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5363.9UniSTS
RH47147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,587,455 - 76,587,556UniSTSGRCh37
Build 36576,623,211 - 76,623,312RGDNCBI36
Celera572,481,685 - 72,481,786RGD
Cytogenetic Map5q31UniSTS
Cytogenetic Map5q13.3UniSTS
Cytogenetic Map5q14UniSTS
HuRef571,793,909 - 71,794,010UniSTS
GeneMap99-GB4 RH Map5371.12UniSTS
D5S2596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,587,528 - 76,587,670UniSTSGRCh37
GRCh375125,880,615 - 125,882,061UniSTSGRCh37
Build 36576,623,284 - 76,623,426RGDNCBI36
Celera572,481,758 - 72,481,900RGD
Cytogenetic Map5q31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q13.3UniSTS
HuRef571,793,982 - 71,794,124UniSTS
HuRef5121,071,318 - 121,072,780UniSTS
Stanford-G3 RH Map52779.0UniSTS
GeneMap99-G3 RH Map52774.0UniSTS
RH45834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,723,911 - 76,724,071UniSTSGRCh37
Build 36576,759,667 - 76,759,827RGDNCBI36
Celera572,618,444 - 72,618,604RGD
Cytogenetic Map5q13.3UniSTS
HuRef571,930,698 - 71,930,858UniSTS
GeneMap99-GB4 RH Map5368.29UniSTS
NCBI RH Map5363.9UniSTS
PDE8B_3075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,722,317 - 76,722,921UniSTSGRCh37
Build 36576,758,073 - 76,758,677RGDNCBI36
Celera572,616,852 - 72,617,456RGD
HuRef571,929,106 - 71,929,710UniSTS
MARC_8167-8168:996688348:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,703,245 - 76,704,747UniSTSGRCh37
Celera572,597,776 - 72,599,278UniSTS
HuRef571,910,010 - 71,911,512UniSTS


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 2427 2788 2248 4962 1720 2338 3 623 1915 464 2265 7241 6425 47 3728 1 841 1733 1604 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001029851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001029852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001029853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001029854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001414623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB085824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB085825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB085826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB085827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF079529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY129948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY129949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY129950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY423729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE169437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF109581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI005015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI677296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU071384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX101253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR005186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY158697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY175067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264917   ⟹   ENSP00000264917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,210,680 - 77,428,256 (+)Ensembl
Ensembl Acc Id: ENST00000333194   ⟹   ENSP00000331336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,210,926 - 77,426,633 (+)Ensembl
Ensembl Acc Id: ENST00000340978   ⟹   ENSP00000345446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,210,881 - 77,427,418 (+)Ensembl
Ensembl Acc Id: ENST00000342343   ⟹   ENSP00000345646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,210,926 - 77,426,633 (+)Ensembl
Ensembl Acc Id: ENST00000346042   ⟹   ENSP00000330428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,210,881 - 77,427,418 (+)Ensembl
Ensembl Acc Id: ENST00000502945   ⟹   ENSP00000426200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,213,944 - 77,331,459 (+)Ensembl
Ensembl Acc Id: ENST00000503963   ⟹   ENSP00000422861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,325,693 - 77,351,118 (+)Ensembl
Ensembl Acc Id: ENST00000505283   ⟹   ENSP00000423461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,410,424 - 77,428,195 (+)Ensembl
Ensembl Acc Id: ENST00000505926   ⟹   ENSP00000425720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,210,449 - 77,331,473 (+)Ensembl
Ensembl Acc Id: ENST00000646262   ⟹   ENSP00000493971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,086,732 - 77,427,124 (+)Ensembl
RefSeq Acc Id: NM_001029851   ⟹   NP_001025022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,680 - 77,428,256 (+)NCBI
GRCh37576,476,082 - 76,724,081 (+)NCBI
Build 36576,542,462 - 76,758,999 (+)NCBI Archive
HuRef571,713,174 - 71,930,868 (+)ENTREZGENE
CHM1_1575,940,448 - 76,157,815 (+)NCBI
T2T-CHM13v2.0577,692,609 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001029852   ⟹   NP_001025023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,680 - 77,428,256 (+)NCBI
GRCh37576,476,082 - 76,724,081 (+)NCBI
Build 36576,542,462 - 76,758,999 (+)NCBI Archive
HuRef571,713,174 - 71,930,868 (+)ENTREZGENE
CHM1_1575,940,448 - 76,157,815 (+)NCBI
T2T-CHM13v2.0577,692,609 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001029853   ⟹   NP_001025024
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,680 - 77,428,256 (+)NCBI
GRCh37576,476,082 - 76,724,081 (+)NCBI
Build 36576,542,462 - 76,758,999 (+)NCBI Archive
HuRef571,713,174 - 71,930,868 (+)ENTREZGENE
CHM1_1575,940,448 - 76,157,815 (+)NCBI
T2T-CHM13v2.0577,692,609 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001029854   ⟹   NP_001025025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,680 - 77,428,256 (+)NCBI
GRCh37576,476,082 - 76,724,081 (+)NCBI
Build 36576,542,462 - 76,758,999 (+)NCBI Archive
HuRef571,713,174 - 71,930,868 (+)ENTREZGENE
CHM1_1575,940,448 - 76,157,815 (+)NCBI
T2T-CHM13v2.0577,692,609 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349748   ⟹   NP_001336677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,680 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,692,609 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349749   ⟹   NP_001336678
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,680 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,692,609 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349750   ⟹   NP_001336679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,180,304 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,662,224 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349751   ⟹   NP_001336680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,680 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,692,609 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349752   ⟹   NP_001336681
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,180,304 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,662,224 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349753   ⟹   NP_001336682
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,209,652 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,691,581 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376062   ⟹   NP_001362991
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,180,304 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,662,224 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376063   ⟹   NP_001362992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,680 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,692,609 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376064   ⟹   NP_001362993
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,680 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,692,609 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376065   ⟹   NP_001362994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,680 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,692,609 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376066   ⟹   NP_001362995
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,180,304 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,662,224 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376067   ⟹   NP_001362996
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,209,652 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,691,581 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376068   ⟹   NP_001362997
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,209,652 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,691,581 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376069   ⟹   NP_001362998
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,180,304 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,662,224 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376070   ⟹   NP_001362999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,180,304 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,662,224 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376071   ⟹   NP_001363000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,180,304 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,662,224 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376072   ⟹   NP_001363001
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,180,304 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,662,224 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376073   ⟹   NP_001363002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,180,304 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,662,224 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376074   ⟹   NP_001363003
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,180,304 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,662,224 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376075   ⟹   NP_001363004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,209,652 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,691,581 - 77,910,865 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001414622   ⟹   NP_001401551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,086,715 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,568,346 - 77,910,865 (+)NCBI
RefSeq Acc Id: NM_001414623   ⟹   NP_001401552
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,086,715 - 77,428,256 (+)NCBI
T2T-CHM13v2.0577,568,346 - 77,910,865 (+)NCBI
RefSeq Acc Id: NM_003719   ⟹   NP_003710
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,680 - 77,428,256 (+)NCBI
GRCh37576,476,082 - 76,724,081 (+)NCBI
Build 36576,542,462 - 76,758,999 (+)NCBI Archive
HuRef571,713,174 - 71,930,868 (+)ENTREZGENE
CHM1_1575,940,448 - 76,157,815 (+)NCBI
T2T-CHM13v2.0577,692,609 - 77,910,865 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001025022 (Get FASTA)   NCBI Sequence Viewer  
  NP_001025023 (Get FASTA)   NCBI Sequence Viewer  
  NP_001025024 (Get FASTA)   NCBI Sequence Viewer  
  NP_001025025 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336677 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336678 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336679 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336680 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336681 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336682 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362991 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362992 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362993 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362994 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362995 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362996 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362997 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362998 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362999 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363000 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363001 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363002 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363003 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363004 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401551 (Get FASTA)   NCBI Sequence Viewer  
  NP_001401552 (Get FASTA)   NCBI Sequence Viewer  
  NP_003710 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC69564 (Get FASTA)   NCBI Sequence Viewer  
  AAH35144 (Get FASTA)   NCBI Sequence Viewer  
  AAH47627 (Get FASTA)   NCBI Sequence Viewer  
  AAN71723 (Get FASTA)   NCBI Sequence Viewer  
  AAN71724 (Get FASTA)   NCBI Sequence Viewer  
  AAN71725 (Get FASTA)   NCBI Sequence Viewer  
  AAN71726 (Get FASTA)   NCBI Sequence Viewer  
  AAN71727 (Get FASTA)   NCBI Sequence Viewer  
  AAS00492 (Get FASTA)   NCBI Sequence Viewer  
  BAC53762 (Get FASTA)   NCBI Sequence Viewer  
  BAC53763 (Get FASTA)   NCBI Sequence Viewer  
  BAC53764 (Get FASTA)   NCBI Sequence Viewer  
  BAC53765 (Get FASTA)   NCBI Sequence Viewer  
  BAG51011 (Get FASTA)   NCBI Sequence Viewer  
  BAG51239 (Get FASTA)   NCBI Sequence Viewer  
  CAD38584 (Get FASTA)   NCBI Sequence Viewer  
  EAW95798 (Get FASTA)   NCBI Sequence Viewer  
  EAW95799 (Get FASTA)   NCBI Sequence Viewer  
  EAW95800 (Get FASTA)   NCBI Sequence Viewer  
  EAW95801 (Get FASTA)   NCBI Sequence Viewer  
  EAW95802 (Get FASTA)   NCBI Sequence Viewer  
  EAW95803 (Get FASTA)   NCBI Sequence Viewer  
  EAW95804 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264917
  ENSP00000264917.6
  ENSP00000330428
  ENSP00000330428.3
  ENSP00000331336
  ENSP00000331336.4
  ENSP00000345446
  ENSP00000345446.3
  ENSP00000345646
  ENSP00000345646.4
  ENSP00000422861.1
  ENSP00000423461.1
  ENSP00000425720.1
  ENSP00000426200.1
  ENSP00000493971.1
GenBank Protein O95263 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003710   ⟸   NM_003719
- Peptide Label: isoform 1
- UniProtKB: Q8IUK0 (UniProtKB/Swiss-Prot),   Q8IUJ9 (UniProtKB/Swiss-Prot),   Q8IUJ8 (UniProtKB/Swiss-Prot),   Q8IUJ7 (UniProtKB/Swiss-Prot),   Q86XK8 (UniProtKB/Swiss-Prot),   Q5J7V7 (UniProtKB/Swiss-Prot),   Q8N3T2 (UniProtKB/Swiss-Prot),   O95263 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001025023   ⟸   NM_001029852
- Peptide Label: isoform 5
- UniProtKB: O95263 (UniProtKB/Swiss-Prot),   B3KN77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001025025   ⟸   NM_001029854
- Peptide Label: isoform 2
- UniProtKB: O95263 (UniProtKB/Swiss-Prot),   B3KN77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001025022   ⟸   NM_001029851
- Peptide Label: isoform 3
- UniProtKB: O95263 (UniProtKB/Swiss-Prot),   B3KN77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001025024   ⟸   NM_001029853
- Peptide Label: isoform 4
- UniProtKB: O95263 (UniProtKB/Swiss-Prot),   B3KN77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336679   ⟸   NM_001349750
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: NP_001336681   ⟸   NM_001349752
- Peptide Label: isoform 10
- Sequence:
RefSeq Acc Id: NP_001336682   ⟸   NM_001349753
- Peptide Label: isoform 11
- UniProtKB: A0A2R8Y4E6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336678   ⟸   NM_001349749
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001336677   ⟸   NM_001349748
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001336680   ⟸   NM_001349751
- Peptide Label: isoform 9
- Sequence:
RefSeq Acc Id: NP_001362998   ⟸   NM_001376069
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001362991   ⟸   NM_001376062
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001363001   ⟸   NM_001376072
- Peptide Label: isoform 20
RefSeq Acc Id: NP_001362999   ⟸   NM_001376070
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001363002   ⟸   NM_001376073
- Peptide Label: isoform 21
RefSeq Acc Id: NP_001363000   ⟸   NM_001376071
- Peptide Label: isoform 19
RefSeq Acc Id: NP_001362995   ⟸   NM_001376066
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001363003   ⟸   NM_001376074
- Peptide Label: isoform 22
RefSeq Acc Id: NP_001362996   ⟸   NM_001376067
- Peptide Label: isoform 11
- UniProtKB: A0A2R8Y4E6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363004   ⟸   NM_001376075
- Peptide Label: isoform 23
RefSeq Acc Id: NP_001362997   ⟸   NM_001376068
- Peptide Label: isoform 11
- UniProtKB: A0A2R8Y4E6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362992   ⟸   NM_001376063
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001362993   ⟸   NM_001376064
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001362994   ⟸   NM_001376065
- Peptide Label: isoform 15
Ensembl Acc Id: ENSP00000426200   ⟸   ENST00000502945
Ensembl Acc Id: ENSP00000330428   ⟸   ENST00000346042
Ensembl Acc Id: ENSP00000422861   ⟸   ENST00000503963
Ensembl Acc Id: ENSP00000331336   ⟸   ENST00000333194
Ensembl Acc Id: ENSP00000425720   ⟸   ENST00000505926
Ensembl Acc Id: ENSP00000423461   ⟸   ENST00000505283
Ensembl Acc Id: ENSP00000345446   ⟸   ENST00000340978
Ensembl Acc Id: ENSP00000345646   ⟸   ENST00000342343
Ensembl Acc Id: ENSP00000264917   ⟸   ENST00000264917
Ensembl Acc Id: ENSP00000493971   ⟸   ENST00000646262
RefSeq Acc Id: NP_001401551   ⟸   NM_001414622
- Peptide Label: isoform 11
- UniProtKB: A0A2R8Y4E6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001401552   ⟸   NM_001414623
- Peptide Label: isoform 11
- UniProtKB: A0A2R8Y4E6 (UniProtKB/TrEMBL)
Protein Domains
PAS   PDEase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95263-F1-model_v2 AlphaFold O95263 1-885 view protein structure

Promoters
RGD ID:6803454
Promoter ID:HG_KWN:50518
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_001029851,   NM_001029852,   NM_001029853,   NM_001029854,   OTTHUMT00000220015
Position:
Human AssemblyChrPosition (strand)Source
Build 36576,542,216 - 76,542,716 (+)MPROMDB
RGD ID:6869940
Promoter ID:EPDNEW_H8135
Type:initiation region
Name:PDE8B_4
Description:phosphodiesterase 8B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8136  EPDNEW_H8137  EPDNEW_H8138  EPDNEW_H8139  EPDNEW_H8140  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,139,279 - 77,139,339EPDNEW
RGD ID:6869942
Promoter ID:EPDNEW_H8136
Type:initiation region
Name:PDE8B_1
Description:phosphodiesterase 8B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8135  EPDNEW_H8137  EPDNEW_H8138  EPDNEW_H8139  EPDNEW_H8140  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,180,304 - 77,180,364EPDNEW
RGD ID:6869944
Promoter ID:EPDNEW_H8137
Type:initiation region
Name:PDE8B_3
Description:phosphodiesterase 8B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8135  EPDNEW_H8136  EPDNEW_H8138  EPDNEW_H8139  EPDNEW_H8140  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,210,957 - 77,211,017EPDNEW
RGD ID:6869946
Promoter ID:EPDNEW_H8138
Type:initiation region
Name:PDE8B_6
Description:phosphodiesterase 8B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8135  EPDNEW_H8136  EPDNEW_H8137  EPDNEW_H8139  EPDNEW_H8140  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,211,205 - 77,211,265EPDNEW
RGD ID:6869948
Promoter ID:EPDNEW_H8139
Type:multiple initiation site
Name:PDE8B_5
Description:phosphodiesterase 8B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8135  EPDNEW_H8136  EPDNEW_H8137  EPDNEW_H8138  EPDNEW_H8140  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,408,917 - 77,408,977EPDNEW
RGD ID:6869950
Promoter ID:EPDNEW_H8140
Type:multiple initiation site
Name:PDE8B_2
Description:phosphodiesterase 8B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8135  EPDNEW_H8136  EPDNEW_H8137  EPDNEW_H8138  EPDNEW_H8139  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,418,425 - 77,418,485EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8794 AgrOrtholog
COSMIC PDE8B COSMIC
Ensembl Genes ENSG00000113231 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000284762 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264917 ENTREZGENE
  ENST00000264917.10 UniProtKB/Swiss-Prot
  ENST00000333194 ENTREZGENE
  ENST00000333194.8 UniProtKB/Swiss-Prot
  ENST00000340978 ENTREZGENE
  ENST00000340978.7 UniProtKB/Swiss-Prot
  ENST00000342343 ENTREZGENE
  ENST00000342343.8 UniProtKB/Swiss-Prot
  ENST00000346042 ENTREZGENE
  ENST00000346042.7 UniProtKB/Swiss-Prot
  ENST00000502945.1 UniProtKB/TrEMBL
  ENST00000503963.1 UniProtKB/TrEMBL
  ENST00000505283.1 UniProtKB/Swiss-Prot
  ENST00000505926.5 UniProtKB/TrEMBL
  ENST00000646262.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1300.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.2300 UniProtKB/TrEMBL
  PAS domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000113231 GTEx
  ENSG00000284762 GTEx
HGNC ID HGNC:8794 ENTREZGENE
Human Proteome Map PDE8B Human Proteome Map
InterPro CheY-like_superfamily UniProtKB/TrEMBL
  HD/PDEase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEase_catalytic_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEase_catalytic_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEase_PDE8 UniProtKB/Swiss-Prot
KEGG Report hsa:8622 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8622 ENTREZGENE
OMIM 603390 OMIM
PANTHER CYCLIC NUCLEOTIDE PHOSPHODIESTERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIGH AFFINITY CAMP-SPECIFIC AND IBMX-INSENSITIVE 3',5'-CYCLIC PHOSPHODIESTERASE 8B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PAS_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDE8 UniProtKB/Swiss-Prot
  PDEase_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33142 PharmGKB
PRINTS PDIESTERASE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEASE_I_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDEASE_I_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP HD-domain/PDEase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52172 UniProtKB/TrEMBL
  SSF55785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y4E6 ENTREZGENE, UniProtKB/TrEMBL
  B3KN77 ENTREZGENE, UniProtKB/TrEMBL
  D6R9W0_HUMAN UniProtKB/TrEMBL
  D6RH10_HUMAN UniProtKB/TrEMBL
  D6RJD7_HUMAN UniProtKB/TrEMBL
  O95263 ENTREZGENE, UniProtKB/Swiss-Prot
  Q3ZCR2_HUMAN UniProtKB/TrEMBL
  Q3ZCW6_HUMAN UniProtKB/TrEMBL
  Q5J7V7 ENTREZGENE
  Q86XK8 ENTREZGENE
  Q8IUJ7 ENTREZGENE
  Q8IUJ8 ENTREZGENE
  Q8IUJ9 ENTREZGENE
  Q8IUK0 ENTREZGENE
  Q8N3T2 ENTREZGENE
UniProt Secondary Q5J7V7 UniProtKB/Swiss-Prot
  Q86XK8 UniProtKB/Swiss-Prot
  Q8IUJ7 UniProtKB/Swiss-Prot
  Q8IUJ8 UniProtKB/Swiss-Prot
  Q8IUJ9 UniProtKB/Swiss-Prot
  Q8IUK0 UniProtKB/Swiss-Prot
  Q8N3T2 UniProtKB/Swiss-Prot