PWWP2A (PWWP domain containing 2A) - Rat Genome Database

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Gene: PWWP2A (PWWP domain containing 2A) Homo sapiens
Analyze
Symbol: PWWP2A
Name: PWWP domain containing 2A
RGD ID: 1642916
HGNC Page HGNC:29406
Description: Enables NuRD complex binding activity; chromatin binding activity; and methylated histone binding activity. Involved in chromatin remodeling. Located in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA1935; MGC132770; MST101; MSTP101; PWWP domain-containing protein 2A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PWWP2AP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385160,044,316 - 160,119,450 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5160,061,801 - 160,119,450 (-)EnsemblGRCh38hg38GRCh38
GRCh375159,502,889 - 159,546,457 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365159,435,467 - 159,479,030 (-)NCBINCBI36Build 36hg18NCBI36
Celera5155,534,450 - 155,578,003 (-)NCBICelera
Cytogenetic Map5q33.3NCBI
HuRef5154,597,226 - 154,640,986 (-)NCBIHuRef
CHM1_15158,935,909 - 158,979,466 (-)NCBICHM1_1
T2T-CHM13v2.05160,572,113 - 160,648,036 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleus  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11572484   PMID:12477932   PMID:14702039   PMID:15146197   PMID:21873635   PMID:23752268   PMID:24378760   PMID:24981860   PMID:25281560   PMID:26496610   PMID:27705803   PMID:28514442  
PMID:28645917   PMID:29117863   PMID:30021884   PMID:30228260   PMID:30327463   PMID:30804502   PMID:31376935   PMID:31527615   PMID:32296183   PMID:33961781   PMID:34079125   PMID:34349018  
PMID:35271311   PMID:35944360   PMID:36089195  


Genomics

Comparative Map Data
PWWP2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385160,044,316 - 160,119,450 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5160,061,801 - 160,119,450 (-)EnsemblGRCh38hg38GRCh38
GRCh375159,502,889 - 159,546,457 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365159,435,467 - 159,479,030 (-)NCBINCBI36Build 36hg18NCBI36
Celera5155,534,450 - 155,578,003 (-)NCBICelera
Cytogenetic Map5q33.3NCBI
HuRef5154,597,226 - 154,640,986 (-)NCBIHuRef
CHM1_15158,935,909 - 158,979,466 (-)NCBICHM1_1
T2T-CHM13v2.05160,572,113 - 160,648,036 (-)NCBIT2T-CHM13v2.0
Pwwp2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391143,566,881 - 43,613,248 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1143,572,825 - 43,612,318 (+)EnsemblGRCm39 Ensembl
GRCm381143,681,125 - 43,722,633 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1143,681,998 - 43,721,491 (+)EnsemblGRCm38mm10GRCm38
MGSCv371143,495,500 - 43,536,135 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361143,525,378 - 43,566,056 (+)NCBIMGSCv36mm8
Celera1148,308,136 - 48,348,710 (+)NCBICelera
Cytogenetic Map11B1.1NCBI
cM Map1125.81NCBI
Pwwp2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81028,654,272 - 28,696,693 (+)NCBIGRCr8
mRatBN7.21028,155,509 - 28,195,255 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1028,155,605 - 28,194,308 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1032,915,090 - 32,953,781 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0101,453,464 - 1,492,155 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01027,885,634 - 27,924,324 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01029,288,060 - 29,335,425 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1029,289,203 - 29,334,478 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01029,128,931 - 29,175,653 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41028,789,156 - 28,828,007 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11028,813,480 - 28,815,082 (+)NCBI
Celera1027,646,254 - 27,683,715 (+)NCBICelera
Cytogenetic Map10q21NCBI
Pwwp2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540814,025,964 - 14,051,149 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540814,007,982 - 14,051,149 (-)NCBIChiLan1.0ChiLan1.0
PWWP2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24155,247,172 - 155,304,599 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15153,386,720 - 153,443,973 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05155,452,698 - 155,509,961 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15162,083,726 - 162,126,580 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5162,085,988 - 162,130,604 (-)Ensemblpanpan1.1panPan2
PWWP2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1450,558,972 - 50,596,546 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha450,453,374 - 50,490,652 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0450,994,006 - 51,031,276 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl450,993,644 - 51,031,271 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1450,802,291 - 50,839,748 (+)NCBIUMICH_Zoey_3.1
UU_Cfam_GSD_1.0451,446,156 - 51,483,420 (+)NCBIUU_Cfam_GSD_1.0
Pwwp2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213104,949,993 - 104,986,924 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365153,399,339 - 3,436,003 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PWWP2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1663,409,932 - 63,448,871 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11663,409,898 - 63,449,997 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21668,901,249 - 68,940,242 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PWWP2A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12362,428,936 - 62,490,904 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2362,460,139 - 62,490,803 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603415,116,595 - 15,181,271 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pwwp2a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473329,404,778 - 29,441,414 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473329,404,918 - 29,443,674 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PWWP2A
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1 copy number loss See cases [RCV000052144] Chr5:152761187..167248053 [GRCh38]
Chr5:152140747..166675058 [GRCh37]
Chr5:152120940..166607636 [NCBI36]
Chr5:5q33.1-34		 pathogenic
GRCh38/hg38 5q33.1-34(chr5:153195314-164014005)x1 copy number loss See cases [RCV000052145] Chr5:153195314..164014005 [GRCh38]
Chr5:152574874..163441011 [GRCh37]
Chr5:152555067..163373589 [NCBI36]
Chr5:5q33.1-34		 pathogenic
NM_001130864.1(PWWP2A):c.1819C>T (p.Pro607Ser) single nucleotide variant Malignant melanoma [RCV000066814] Chr5:160092831 [GRCh38]
Chr5:159519838 [GRCh37]
Chr5:159452416 [NCBI36]
Chr5:5q33.3		 not provided
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3		 pathogenic
GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1 copy number loss See cases [RCV000138282] Chr5:152443869..166104392 [GRCh38]
Chr5:151823430..165531397 [GRCh37]
Chr5:151803623..165463975 [NCBI36]
Chr5:5q33.1-34		 pathogenic
GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1 copy number loss See cases [RCV000138895] Chr5:158941354..164386760 [GRCh38]
Chr5:158368362..163813766 [GRCh37]
Chr5:158300940..163746344 [NCBI36]
Chr5:5q33.3-34		 pathogenic
GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1 copy number loss See cases [RCV000240059] Chr5:154886174..169757448 [GRCh37]
Chr5:5q33.2-35.1		 pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_003314.3(TTC1):c.784T>G (p.Phe262Val) single nucleotide variant Abnormal brain morphology [RCV000454191] Chr5:160064970 [GRCh38]
Chr5:159491977 [GRCh37]
Chr5:5q33.3		 likely pathogenic
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 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 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
GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3 copy number gain not provided [RCV000845588] Chr5:156597181..171166353 [GRCh37]
Chr5:5q33.3-35.1		 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
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 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3		 pathogenic
NM_001130864.2(PWWP2A):c.1701T>C (p.Tyr567=) single nucleotide variant not provided [RCV000972113] Chr5:160092949 [GRCh38]
Chr5:159519956 [GRCh37]
Chr5:5q33.3		 benign
NM_001130864.2(PWWP2A):c.213A>G (p.Pro71=) single nucleotide variant not provided [RCV000892389] Chr5:160119176 [GRCh38]
Chr5:159546183 [GRCh37]
Chr5:5q33.3		 benign
NM_001130864.2(PWWP2A):c.23C>T (p.Ala8Val) single nucleotide variant not specified [RCV004286051] Chr5:160119366 [GRCh38]
Chr5:159546373 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.454A>G (p.Thr152Ala) single nucleotide variant not specified [RCV004312538] Chr5:160118935 [GRCh38]
Chr5:159545942 [GRCh37]
Chr5:5q33.3		 likely benign
GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1 copy number loss not provided [RCV001005746] Chr5:156347980..169959880 [GRCh37]
Chr5:5q33.3-35.1		 pathogenic
GRCh37/hg19 5q33.3-34(chr5:157801321-162780186)x1 copy number loss not provided [RCV001005747] Chr5:157801321..162780186 [GRCh37]
Chr5:5q33.3-34		 pathogenic
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
NM_001130864.2(PWWP2A):c.1909G>A (p.Val637Ile) single nucleotide variant not specified [RCV004289418] Chr5:160092741 [GRCh38]
Chr5:159519748 [GRCh37]
Chr5:5q33.3		 likely benign
GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1 copy number loss not provided [RCV001825167] Chr5:155970607..162450579 [GRCh37]
Chr5:5q33.3-34		 not provided
NM_001130864.2(PWWP2A):c.179C>A (p.Ala60Asp) single nucleotide variant not specified [RCV004304357] Chr5:160119210 [GRCh38]
Chr5:159546217 [GRCh37]
Chr5:5q33.3		 uncertain significance
Single allele duplication not specified [RCV002286367] Chr5:158887731..164722046 [GRCh38]
Chr5:5q33.3-34		 uncertain significance
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3 copy number gain not provided [RCV002474507] Chr5:150535183..172906793 [GRCh37]
Chr5:5q33.1-35.2		 pathogenic
GRCh37/hg19 5q33.3-34(chr5:159535230-161656766)x3 copy number gain not provided [RCV002474838] Chr5:159535230..161656766 [GRCh37]
Chr5:5q33.3-34		 uncertain significance
NM_001130864.2(PWWP2A):c.598G>A (p.Gly200Ser) single nucleotide variant not specified [RCV004144869] Chr5:160094052 [GRCh38]
Chr5:159521059 [GRCh37]
Chr5:5q33.3		 uncertain significance
GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1 copy number loss not provided [RCV002512289] Chr5:156786013..162945369 [GRCh37]
Chr5:5q33.3-34		 likely pathogenic
NM_001130864.2(PWWP2A):c.1704G>A (p.Met568Ile) single nucleotide variant not specified [RCV004201678] Chr5:160092946 [GRCh38]
Chr5:159519953 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1878G>C (p.Glu626Asp) single nucleotide variant not specified [RCV004078647] Chr5:160092772 [GRCh38]
Chr5:159519779 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_052927.4(PWWP2A):c.1579A>C (p.Thr527Pro) single nucleotide variant not specified [RCV004102909] Chr5:160080741 [GRCh38]
Chr5:159507748 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_003314.3(TTC1):c.772G>A (p.Val258Ile) single nucleotide variant not specified [RCV004145722] Chr5:160064958 [GRCh38]
Chr5:159491965 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1261A>G (p.Lys421Glu) single nucleotide variant not specified [RCV004201798] Chr5:160093389 [GRCh38]
Chr5:159520396 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1990T>C (p.Tyr664His) single nucleotide variant not specified [RCV004228505] Chr5:160092660 [GRCh38]
Chr5:159519667 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.209C>T (p.Pro70Leu) single nucleotide variant not specified [RCV004208194] Chr5:160119180 [GRCh38]
Chr5:159546187 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1724C>A (p.Ser575Tyr) single nucleotide variant not specified [RCV004283091] Chr5:160092926 [GRCh38]
Chr5:159519933 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1921A>C (p.Asn641His) single nucleotide variant not specified [RCV004265414] Chr5:160092729 [GRCh38]
Chr5:159519736 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1123A>G (p.Asn375Asp) single nucleotide variant not specified [RCV004278679] Chr5:160093527 [GRCh38]
Chr5:159520534 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_003314.3(TTC1):c.605C>T (p.Thr202Met) single nucleotide variant not specified [RCV004264252] Chr5:160049577 [GRCh38]
Chr5:159476584 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_003314.3(TTC1):c.740T>C (p.Met247Thr) single nucleotide variant not specified [RCV004277420] Chr5:160051178 [GRCh38]
Chr5:159478185 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1880A>G (p.Lys627Arg) single nucleotide variant not specified [RCV004259443] Chr5:160092770 [GRCh38]
Chr5:159519777 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_003314.3(TTC1):c.643A>G (p.Ile215Val) single nucleotide variant not specified [RCV004343289] Chr5:160049615 [GRCh38]
Chr5:159476622 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.505A>G (p.Ile169Val) single nucleotide variant not specified [RCV004340472] Chr5:160118884 [GRCh38]
Chr5:159545891 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.2232C>T (p.Pro744=) single nucleotide variant not provided [RCV003429958] Chr5:160092418 [GRCh38]
Chr5:159519425 [GRCh37]
Chr5:5q33.3		 likely benign
NM_001130864.2(PWWP2A):c.1475C>T (p.Thr492Ile) single nucleotide variant not specified [RCV004438291] Chr5:160093175 [GRCh38]
Chr5:159520182 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1483G>A (p.Glu495Lys) single nucleotide variant not specified [RCV004438292] Chr5:160093167 [GRCh38]
Chr5:159520174 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.2189A>G (p.Lys730Arg) single nucleotide variant not specified [RCV004438296] Chr5:160092461 [GRCh38]
Chr5:159519468 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1352A>G (p.Asn451Ser) single nucleotide variant not specified [RCV004438290] Chr5:160093298 [GRCh38]
Chr5:159520305 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.703G>A (p.Ala235Thr) single nucleotide variant not specified [RCV004438298] Chr5:160093947 [GRCh38]
Chr5:159520954 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1573A>G (p.Ser525Gly) single nucleotide variant not specified [RCV004438293] Chr5:160093077 [GRCh38]
Chr5:159520084 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.16G>A (p.Ala6Thr) single nucleotide variant not specified [RCV004438295] Chr5:160119373 [GRCh38]
Chr5:159546380 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1644T>G (p.Asp548Glu) single nucleotide variant not specified [RCV004438294] Chr5:160093006 [GRCh38]
Chr5:159520013 [GRCh37]
Chr5:5q33.3		 likely benign
NM_001130864.2(PWWP2A):c.401C>T (p.Pro134Leu) single nucleotide variant not specified [RCV004438297] Chr5:160118988 [GRCh38]
Chr5:159545995 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_003314.3(TTC1):c.677G>A (p.Arg226Lys) single nucleotide variant not specified [RCV004478938] Chr5:160049649 [GRCh38]
Chr5:159476656 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_003314.3(TTC1):c.813C>G (p.Ile271Met) single nucleotide variant not specified [RCV004478939] Chr5:160064999 [GRCh38]
Chr5:159492006 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1907A>G (p.Lys636Arg) single nucleotide variant not specified [RCV004662780] Chr5:160092743 [GRCh38]
Chr5:159519750 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.238C>T (p.Arg80Cys) single nucleotide variant not specified [RCV004662776] Chr5:160119151 [GRCh38]
Chr5:159546158 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.940A>G (p.Lys314Glu) single nucleotide variant not specified [RCV004669300] Chr5:160093710 [GRCh38]
Chr5:159520717 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1079C>T (p.Thr360Ile) single nucleotide variant not specified [RCV004662781] Chr5:160093571 [GRCh38]
Chr5:159520578 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.370C>A (p.Pro124Thr) single nucleotide variant not specified [RCV004662782] Chr5:160119019 [GRCh38]
Chr5:159546026 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1615G>C (p.Asp539His) single nucleotide variant not specified [RCV004662779] Chr5:160093035 [GRCh38]
Chr5:159520042 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_003314.3(TTC1):c.616G>A (p.Asp206Asn) single nucleotide variant not specified [RCV004680551] Chr5:160049588 [GRCh38]
Chr5:159476595 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1382G>A (p.Arg461Gln) single nucleotide variant not specified [RCV004662777] Chr5:160093268 [GRCh38]
Chr5:159520275 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1544C>T (p.Ser515Leu) single nucleotide variant not specified [RCV004662783] Chr5:160093106 [GRCh38]
Chr5:159520113 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1831A>T (p.Met611Leu) single nucleotide variant not specified [RCV004849634] Chr5:160092819 [GRCh38]
Chr5:159519826 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.757T>G (p.Leu253Val) single nucleotide variant not specified [RCV004849636] Chr5:160093893 [GRCh38]
Chr5:159520900 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.573T>G (p.Asp191Glu) single nucleotide variant not specified [RCV004849629] Chr5:160118816 [GRCh38]
Chr5:159545823 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1820C>T (p.Pro607Leu) single nucleotide variant not specified [RCV004849630] Chr5:160092830 [GRCh38]
Chr5:159519837 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1565A>C (p.Glu522Ala) single nucleotide variant not specified [RCV004849631] Chr5:160093085 [GRCh38]
Chr5:159520092 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.190G>C (p.Asp64His) single nucleotide variant not specified [RCV004849632] Chr5:160119199 [GRCh38]
Chr5:159546206 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.2024C>A (p.Thr675Asn) single nucleotide variant not specified [RCV004849633] Chr5:160092626 [GRCh38]
Chr5:159519633 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.585G>A (p.Arg195=) single nucleotide variant not specified [RCV004849637] Chr5:160094065 [GRCh38]
Chr5:159521072 [GRCh37]
Chr5:5q33.3		 likely benign
NM_001130864.2(PWWP2A):c.181C>A (p.Pro61Thr) single nucleotide variant not specified [RCV004849638] Chr5:160119208 [GRCh38]
Chr5:159546215 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1579T>G (p.Ser527Ala) single nucleotide variant not specified [RCV004849639] Chr5:160093071 [GRCh38]
Chr5:159520078 [GRCh37]
Chr5:5q33.3		 uncertain significance
NM_001130864.2(PWWP2A):c.1841C>G (p.Pro614Arg) single nucleotide variant not specified [RCV004335652] Chr5:160092809 [GRCh38]
Chr5:159519816 [GRCh37]
Chr5:5q33.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1722
Count of miRNA genes:902
Interacting mature miRNAs:1032
Transcripts:ENST00000307063, ENST00000456329, ENST00000520662, ENST00000521424, ENST00000523662, ENST00000524050
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597145318GWAS1241392_Hprostate carcinoma QTL GWAS1241392 (human)1e-11prostate carcinoma5160059729160059730Human
597059763GWAS1155837_HFEV/FVC ratio QTL GWAS1155837 (human)2e-08FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)5160060316160060317Human
597149056GWAS1245130_Hprostate carcinoma QTL GWAS1245130 (human)0.0000002prostate carcinoma5160059729160059730Human
597320579GWAS1416653_HFVC change measurement, fatty liver disease QTL GWAS1416653 (human)0.000008FVC change measurement, fatty liver diseaserespiratory system measurement (CMO:0000094)5160110796160110797Human
597134554GWAS1230628_Hdiastolic blood pressure QTL GWAS1230628 (human)9e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)5160061671160061672Human
597288150GWAS1384224_Hbody weight QTL GWAS1384224 (human)4e-08body mass (VT:0001259)body weight (CMO:0000012)5160061660160061661Human

Markers in Region
RH45035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375159,520,691 - 159,520,897UniSTSGRCh37
Build 365159,453,269 - 159,453,475RGDNCBI36
Celera5155,552,252 - 155,552,458RGD
Cytogenetic Map5q33.3UniSTS
HuRef5154,615,045 - 154,615,251UniSTS
GeneMap99-GB4 RH Map5595.0UniSTS
NCBI RH Map5942.1UniSTS
RH78084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375159,504,153 - 159,504,275UniSTSGRCh37
Build 365159,436,731 - 159,436,853RGDNCBI36
Celera5155,535,715 - 155,535,837RGD
Cytogenetic Map5q33.3UniSTS
HuRef5154,598,491 - 154,598,613UniSTS
GeneMap99-GB4 RH Map5595.28UniSTS
NCBI RH Map5932.8UniSTS
RH103331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375159,503,034 - 159,503,192UniSTSGRCh37
Build 365159,435,612 - 159,435,770RGDNCBI36
Celera5155,534,595 - 155,534,753RGD
Cytogenetic Map5q33.3UniSTS
HuRef5154,597,371 - 154,597,529UniSTS
GeneMap99-GB4 RH Map5595.0UniSTS
bac5774S  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375159,518,711 - 159,518,854UniSTSGRCh37
Build 365159,451,289 - 159,451,432RGDNCBI36
Celera5155,550,272 - 155,550,415RGD
Cytogenetic Map5q33.3UniSTS
HuRef5154,613,047 - 154,613,190UniSTS
A009H27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375159,527,337 - 159,527,600UniSTSGRCh37
Build 365159,459,915 - 159,460,178RGDNCBI36
Celera5155,558,899 - 155,559,162RGD
Cytogenetic Map5q33.3UniSTS
HuRef5154,621,692 - 154,621,955UniSTS
GeneMap99-GB4 RH Map5594.58UniSTS
NCBI RH Map5942.1UniSTS
RH44794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375159,504,676 - 159,504,838UniSTSGRCh37
Build 365159,437,254 - 159,437,416RGDNCBI36
Celera5155,536,238 - 155,536,400RGD
Cytogenetic Map5q33.3UniSTS
HuRef5154,599,014 - 154,599,176UniSTS
GeneMap99-GB4 RH Map5595.0UniSTS
NCBI RH Map5942.1UniSTS
G32548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375159,527,337 - 159,527,600UniSTSGRCh37
Celera5155,558,899 - 155,559,162UniSTS
Cytogenetic Map5q33.3UniSTS
HuRef5154,621,692 - 154,621,955UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001130864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001267035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007058578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007058579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007058580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_427800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB067522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF173385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI288438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI972512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV720552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI548991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB218424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN336545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB450981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000307063   ⟹   ENSP00000305151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5160,091,339 - 160,119,450 (-)Ensembl
Ensembl Acc Id: ENST00000456329   ⟹   ENSP00000390462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5160,075,882 - 160,119,423 (-)Ensembl
Ensembl Acc Id: ENST00000520662   ⟹   ENSP00000430703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5160,093,758 - 160,118,833 (-)Ensembl
Ensembl Acc Id: ENST00000521424   ⟹   ENSP00000430696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5160,077,844 - 160,093,284 (-)Ensembl
Ensembl Acc Id: ENST00000523662   ⟹   ENSP00000428143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5160,077,933 - 160,119,422 (-)Ensembl
Ensembl Acc Id: ENST00000524050   ⟹   ENSP00000428636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5160,061,801 - 160,093,180 (-)Ensembl
RefSeq Acc Id: NM_001130864   ⟹   NP_001124336
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,091,339 - 160,119,450 (-)NCBI
GRCh375159,502,889 - 159,546,452 (-)RGD
Celera5155,534,450 - 155,578,003 (-)RGD
HuRef5154,597,226 - 154,640,986 (-)ENTREZGENE
CHM1_15158,951,365 - 158,979,466 (-)NCBI
T2T-CHM13v2.05160,619,892 - 160,648,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001267035   ⟹   NP_001253964
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,075,882 - 160,119,450 (-)NCBI
GRCh375159,502,889 - 159,546,452 (-)NCBI
HuRef5154,597,226 - 154,640,986 (-)NCBI
CHM1_15158,935,909 - 158,979,466 (-)NCBI
T2T-CHM13v2.05160,604,436 - 160,648,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349732   ⟹   NP_001336661
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,091,339 - 160,119,450 (-)NCBI
T2T-CHM13v2.05160,619,892 - 160,648,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349733   ⟹   NP_001336662
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,075,882 - 160,119,450 (-)NCBI
T2T-CHM13v2.05160,604,436 - 160,648,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349734   ⟹   NP_001336663
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,075,882 - 160,119,450 (-)NCBI
T2T-CHM13v2.05160,604,436 - 160,648,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349735   ⟹   NP_001336664
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,075,882 - 160,119,450 (-)NCBI
T2T-CHM13v2.05160,604,436 - 160,648,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_052927   ⟹   NP_443159
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,075,882 - 160,119,450 (-)NCBI
GRCh375159,502,889 - 159,546,452 (-)RGD
Build 365159,435,467 - 159,479,030 (-)NCBI Archive
Celera5155,534,450 - 155,578,003 (-)RGD
HuRef5154,597,226 - 154,640,986 (-)ENTREZGENE
CHM1_15158,935,909 - 158,979,466 (-)NCBI
T2T-CHM13v2.05160,604,436 - 160,648,036 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146216
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,075,882 - 160,119,450 (-)NCBI
T2T-CHM13v2.05160,604,436 - 160,648,036 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146217
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,075,882 - 160,119,450 (-)NCBI
T2T-CHM13v2.05160,604,436 - 160,648,036 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005265811   ⟹   XP_005265868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,091,339 - 160,105,747 (-)NCBI
GRCh375159,502,889 - 159,546,452 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005265812   ⟹   XP_005265869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,091,339 - 160,119,450 (-)NCBI
GRCh375159,502,889 - 159,546,452 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011534424   ⟹   XP_011532726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,044,316 - 160,119,450 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054351546   ⟹   XP_054207521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05160,572,113 - 160,648,036 (-)NCBI
RefSeq Acc Id: XM_054351547   ⟹   XP_054207522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05160,620,609 - 160,634,341 (-)NCBI
RefSeq Acc Id: XM_054351548   ⟹   XP_054207523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05160,620,609 - 160,648,036 (-)NCBI
RefSeq Acc Id: XR_007058578
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,058,699 - 160,119,450 (-)NCBI
RefSeq Acc Id: XR_007058579
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,113,388 - 160,119,450 (-)NCBI
RefSeq Acc Id: XR_007058580
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,115,568 - 160,119,450 (-)NCBI
RefSeq Acc Id: XR_008487079
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05160,587,245 - 160,648,036 (-)NCBI
RefSeq Acc Id: XR_008487080
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05160,641,708 - 160,648,036 (-)NCBI
RefSeq Acc Id: XR_008487081
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05160,644,154 - 160,648,036 (-)NCBI
RefSeq Acc Id: NP_443159   ⟸   NM_052927
- Peptide Label: isoform a
- UniProtKB: Q96N64 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124336   ⟸   NM_001130864
- Peptide Label: isoform b
- UniProtKB: Q8IYR3 (UniProtKB/Swiss-Prot),   Q2HJJ2 (UniProtKB/Swiss-Prot),   G5EA07 (UniProtKB/Swiss-Prot),   Q96PV3 (UniProtKB/Swiss-Prot),   Q96N64 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001253964   ⟸   NM_001267035
- Peptide Label: isoform c
- UniProtKB: Q96N64 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005265869   ⟸   XM_005265812
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005265868   ⟸   XM_005265811
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011532726   ⟸   XM_011534424
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001336664   ⟸   NM_001349735
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: NP_001336662   ⟸   NM_001349733
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001336663   ⟸   NM_001349734
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: NP_001336661   ⟸   NM_001349732
- Peptide Label: isoform d
- Sequence:
Ensembl Acc Id: ENSP00000305151   ⟸   ENST00000307063
Ensembl Acc Id: ENSP00000390462   ⟸   ENST00000456329
Ensembl Acc Id: ENSP00000430703   ⟸   ENST00000520662
Ensembl Acc Id: ENSP00000430696   ⟸   ENST00000521424
Ensembl Acc Id: ENSP00000428143   ⟸   ENST00000523662
Ensembl Acc Id: ENSP00000428636   ⟸   ENST00000524050
RefSeq Acc Id: XP_054207521   ⟸   XM_054351546
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054207523   ⟸   XM_054351548
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054207522   ⟸   XM_054351547
- Peptide Label: isoform X2
Protein Domains
PWWP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96N64-F1-model_v2 AlphaFold Q96N64 1-755 view protein structure

Promoters
RGD ID:6802840
Promoter ID:HG_KWN:51676
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003LXW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365159,452,636 - 159,453,137 (-)MPROMDB
RGD ID:6802841
Promoter ID:HG_KWN:51677
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000307063,   NM_001130864,   UC003LXV.2
Position:
Human AssemblyChrPosition (strand)Source
Build 365159,478,416 - 159,479,537 (-)MPROMDB
RGD ID:6871440
Promoter ID:EPDNEW_H8885
Type:initiation region
Name:PWWP2A_1
Description:PWWP domain containing 2A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385160,119,450 - 160,119,510EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29406 AgrOrtholog
COSMIC PWWP2A COSMIC
Ensembl Genes ENSG00000170234 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307063 ENTREZGENE
  ENST00000307063.9 UniProtKB/Swiss-Prot
  ENST00000456329 ENTREZGENE
  ENST00000456329.7 UniProtKB/Swiss-Prot
  ENST00000521424.1 UniProtKB/TrEMBL
  ENST00000523662 ENTREZGENE
  ENST00000523662.1 UniProtKB/Swiss-Prot
  ENST00000524050.5 UniProtKB/TrEMBL
Gene3D-CATH 2.30.30.140 UniProtKB/Swiss-Prot
GTEx ENSG00000170234 GTEx
HGNC ID HGNC:29406 ENTREZGENE
Human Proteome Map PWWP2A Human Proteome Map
InterPro PWWP_dom UniProtKB/Swiss-Prot
KEGG Report hsa:114825 UniProtKB/Swiss-Prot
NCBI Gene 114825 ENTREZGENE
OMIM 617823 OMIM
PANTHER AT HOOK TRANSCRIPTION FACTOR FAMILY-RELATED UniProtKB/Swiss-Prot
  LP07818P1 UniProtKB/Swiss-Prot
Pfam PWWP UniProtKB/Swiss-Prot
PharmGKB PA162400500 PharmGKB
PROSITE PWWP UniProtKB/Swiss-Prot
SMART PWWP UniProtKB/Swiss-Prot
Superfamily-SCOP Tudor/PWWP/MBT UniProtKB/Swiss-Prot
UniProt G5EA07 ENTREZGENE
  H0YB44_HUMAN UniProtKB/TrEMBL
  H0YC06_HUMAN UniProtKB/TrEMBL
  PWP2A_HUMAN UniProtKB/Swiss-Prot
  Q2HJJ2 ENTREZGENE
  Q8IYR3 ENTREZGENE
  Q96N64 ENTREZGENE
  Q96PV3 ENTREZGENE
UniProt Secondary G5EA07 UniProtKB/Swiss-Prot
  Q2HJJ2 UniProtKB/Swiss-Prot
  Q8IYR3 UniProtKB/Swiss-Prot
  Q96PV3 UniProtKB/Swiss-Prot