PIWIL4 (piwi like RNA-mediated gene silencing 4) - Rat Genome Database

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Gene: PIWIL4 (piwi like RNA-mediated gene silencing 4) Homo sapiens
Analyze
Symbol: PIWIL4
Name: piwi like RNA-mediated gene silencing 4
RGD ID: 1322245
HGNC Page HGNC:18444
Description: Enables piRNA binding activity. Involved in epithelial structure maintenance. Located in mitochondrion and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp686P01248; FLJ36156; HIWI2; MIWI2; piwi-like 4; piwi-like protein 4; piwi-like RNA-mediated gene silencing 4; testis tissue sperm-binding protein Li 85P
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381194,567,368 - 94,621,421 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1194,543,840 - 94,621,421 (+)EnsemblGRCh38hg38GRCh38
GRCh371194,300,534 - 94,354,587 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361193,940,182 - 93,994,234 (+)NCBINCBI36Build 36hg18NCBI36
Build 341193,940,181 - 93,994,234NCBI
Celera1191,588,283 - 91,642,396 (+)NCBICelera
Cytogenetic Map11q21NCBI
HuRef1190,365,674 - 90,419,786 (+)NCBIHuRef
CHM1_11194,183,460 - 94,237,568 (+)NCBICHM1_1
T2T-CHM13v2.01194,574,415 - 94,628,468 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA,ISS)
mitochondrion  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA,ISS)
P granule  (IBA,IEA,ISS)
piP-body  (ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12414724   PMID:12477932   PMID:12906857   PMID:14702039   PMID:14749716   PMID:15489334   PMID:16344560   PMID:17544373   PMID:18846501   PMID:20146808   PMID:20379614   PMID:20721975  
PMID:20940137   PMID:21873635   PMID:22483988   PMID:22748119   PMID:24464225   PMID:24509249   PMID:24969058   PMID:24981860   PMID:25038252   PMID:25331947   PMID:25798074   PMID:26646899  
PMID:26957540   PMID:27893851   PMID:27894076   PMID:28025795   PMID:28861107   PMID:28920925   PMID:30021884   PMID:30226541   PMID:32161174   PMID:32372724   PMID:32393512   PMID:33961781  
PMID:35074406   PMID:35205757   PMID:37146239  


Genomics

Comparative Map Data
PIWIL4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381194,567,368 - 94,621,421 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1194,543,840 - 94,621,421 (+)EnsemblGRCh38hg38GRCh38
GRCh371194,300,534 - 94,354,587 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361193,940,182 - 93,994,234 (+)NCBINCBI36Build 36hg18NCBI36
Build 341193,940,181 - 93,994,234NCBI
Celera1191,588,283 - 91,642,396 (+)NCBICelera
Cytogenetic Map11q21NCBI
HuRef1190,365,674 - 90,419,786 (+)NCBIHuRef
CHM1_11194,183,460 - 94,237,568 (+)NCBICHM1_1
T2T-CHM13v2.01194,574,415 - 94,628,468 (+)NCBIT2T-CHM13v2.0
Piwil4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39914,613,072 - 14,651,968 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl914,607,526 - 14,652,036 (-)EnsemblGRCm39 Ensembl
GRCm38914,701,776 - 14,740,672 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl914,696,230 - 14,740,733 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl914,696,230 - 14,740,740 (-)EnsemblGRCm38mm10GRCm38
MGSCv37914,506,802 - 14,545,177 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36914,452,751 - 14,491,126 (-)NCBIMGSCv36mm8
Celera911,982,833 - 12,021,209 (-)NCBICelera
Cytogenetic Map9A2NCBI
cM Map94.25NCBI
Piwil4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8819,817,985 - 19,861,327 (-)NCBIGRCr8
mRatBN7.2811,536,520 - 11,579,883 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl811,536,520 - 11,579,761 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx815,521,749 - 15,564,552 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0813,819,492 - 13,862,295 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0811,795,101 - 11,837,796 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0813,208,774 - 13,251,970 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl813,208,774 - 13,251,812 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0813,150,647 - 13,192,599 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4811,491,035 - 11,534,564 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1811,491,034 - 11,534,564 (-)NCBI
Celera813,007,375 - 13,049,493 (-)NCBICelera
Cytogenetic Map8q12NCBI
Piwil4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955605331,633 - 398,528 (-)NCBIChiLan1.0ChiLan1.0
PIWIL4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2995,414,340 - 95,468,649 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11196,504,084 - 96,560,116 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01189,572,252 - 89,628,251 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11193,098,926 - 93,151,404 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1193,097,709 - 93,150,981 (+)Ensemblpanpan1.1panPan2
PIWIL4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1216,319,986 - 6,391,149 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl216,319,987 - 6,366,787 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha216,330,852 - 6,377,361 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0216,500,351 - 6,547,075 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl216,500,352 - 6,547,201 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1216,287,775 - 6,334,256 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0216,350,835 - 6,397,206 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0216,399,353 - 6,446,079 (-)NCBIUU_Cfam_GSD_1.0
Piwil4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494779,489,052 - 79,535,015 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936674355,302 - 402,388 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIWIL4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl926,703,340 - 26,751,854 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1926,679,960 - 26,751,856 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2930,436,750 - 30,505,677 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIWIL4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1185,768,124 - 85,817,426 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl185,768,287 - 85,817,000 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604339,958,043 - 40,009,359 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Piwil4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473539,220,242 - 39,285,794 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIWIL4
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
NM_152431.2(PIWIL4):c.1269G>A (p.Arg423=) single nucleotide variant Malignant melanoma [RCV000069759] Chr11:94597804 [GRCh38]
Chr11:94330970 [GRCh37]
Chr11:93970618 [NCBI36]
Chr11:11q21
not provided
NM_152431.2(PIWIL4):c.1847C>T (p.Ser616Phe) single nucleotide variant Malignant melanoma [RCV000069760] Chr11:94608590 [GRCh38]
Chr11:94341756 [GRCh37]
Chr11:93981404 [NCBI36]
Chr11:11q21
not provided
NM_152431.2(PIWIL4):c.2387C>T (p.Pro796Leu) single nucleotide variant Malignant melanoma [RCV000069761] Chr11:94620089 [GRCh38]
Chr11:94353255 [GRCh37]
Chr11:93992903 [NCBI36]
Chr11:11q21
not provided
NM_152431.2(PIWIL4):c.1151-1G>A single nucleotide variant Malignant melanoma [RCV000062369] Chr11:94595308 [GRCh38]
Chr11:94328474 [GRCh37]
Chr11:93968122 [NCBI36]
Chr11:11q21
not provided
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
GRCh38/hg38 11q21(chr11:94324282-96081666)x3 copy number gain See cases [RCV000134847] Chr11:94324282..96081666 [GRCh38]
Chr11:94057448..95814830 [GRCh37]
Chr11:93697096..95454478 [NCBI36]
Chr11:11q21
uncertain significance
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3
pathogenic
NM_152431.3(PIWIL4):c.2449G>A (p.Val817Ile) single nucleotide variant Inborn genetic diseases [RCV003267734] Chr11:94620882 [GRCh38]
Chr11:94354048 [GRCh37]
Chr11:11q21
likely benign
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
GRCh37/hg19 11q21(chr11:93975926-94529037)x3 copy number gain See cases [RCV000445949] Chr11:93975926..94529037 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_152431.3(PIWIL4):c.2224G>A (p.Glu742Lys) single nucleotide variant Inborn genetic diseases [RCV003254742] Chr11:94619815 [GRCh38]
Chr11:94352981 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.460G>A (p.Ala154Thr) single nucleotide variant Inborn genetic diseases [RCV003266311] Chr11:94577439 [GRCh38]
Chr11:94310605 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q21(chr11:93989761-94819546)x3 copy number gain not provided [RCV000683351] Chr11:93989761..94819546 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q21(chr11:94321093-94463156)x1 copy number loss not provided [RCV000683308] Chr11:94321093..94463156 [GRCh37]
Chr11:11q21
likely benign
GRCh37/hg19 11q21(chr11:93934796-94301509)x3 copy number gain not provided [RCV000683333] Chr11:93934796..94301509 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q21(chr11:93975926-94626160)x3 copy number gain not provided [RCV000683345] Chr11:93975926..94626160 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3 copy number gain not provided [RCV000750120] Chr11:83179196..94716998 [GRCh37]
Chr11:11q14.1-21
pathogenic
NM_152431.3(PIWIL4):c.705T>A (p.Ile235=) single nucleotide variant not provided [RCV000967233] Chr11:94585514 [GRCh38]
Chr11:94318680 [GRCh37]
Chr11:11q21
benign
NM_152431.3(PIWIL4):c.806G>A (p.Arg269Gln) single nucleotide variant not provided [RCV000903205] Chr11:94587139 [GRCh38]
Chr11:94320305 [GRCh37]
Chr11:11q21
likely benign
NM_152431.3(PIWIL4):c.766A>C (p.Lys256Gln) single nucleotide variant not provided [RCV000954727] Chr11:94587099 [GRCh38]
Chr11:94320265 [GRCh37]
Chr11:11q21
likely benign
NM_152431.3(PIWIL4):c.1269-4A>G single nucleotide variant not provided [RCV000905732] Chr11:94597800 [GRCh38]
Chr11:94330966 [GRCh37]
Chr11:11q21
benign
NM_152431.3(PIWIL4):c.801C>T (p.Val267=) single nucleotide variant not provided [RCV000967234] Chr11:94587134 [GRCh38]
Chr11:94320300 [GRCh37]
Chr11:11q21
benign
NM_152431.3(PIWIL4):c.1762A>G (p.Met588Val) single nucleotide variant not provided [RCV000960118] Chr11:94607562 [GRCh38]
Chr11:94340728 [GRCh37]
Chr11:11q21
benign
NM_152431.3(PIWIL4):c.1514G>T (p.Cys505Phe) single nucleotide variant not provided [RCV000973481] Chr11:94601928 [GRCh38]
Chr11:94335094 [GRCh37]
Chr11:11q21
likely benign
NM_152431.3(PIWIL4):c.1063A>G (p.Met355Val) single nucleotide variant not provided [RCV000955430] Chr11:94593554 [GRCh38]
Chr11:94326720 [GRCh37]
Chr11:11q21
benign
GRCh37/hg19 11q21(chr11:93676223-94342737)x3 copy number gain not provided [RCV001260146] Chr11:93676223..94342737 [GRCh37]
Chr11:11q21
uncertain significance
NC_000011.9:g.(?_94153285)_(111965700_?)del deletion Ataxia-telangiectasia syndrome [RCV001389105] Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1
pathogenic
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) copy number loss not specified [RCV002052940] Chr11:77855209..98002445 [GRCh37]
Chr11:11q14.1-22.1
pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) copy number loss not specified [RCV002052941] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
GRCh37/hg19 11q21(chr11:93975926-94529037) copy number gain not specified [RCV002052949] Chr11:93975926..94529037 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q14.3-21(chr11:90906452-94437087) copy number gain not specified [RCV002052947] Chr11:90906452..94437087 [GRCh37]
Chr11:11q14.3-21
uncertain significance
NM_152431.3(PIWIL4):c.794A>G (p.Tyr265Cys) single nucleotide variant Inborn genetic diseases [RCV003259646] Chr11:94587127 [GRCh38]
Chr11:94320293 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1531G>T (p.Gly511Cys) single nucleotide variant Inborn genetic diseases [RCV002905640] Chr11:94601945 [GRCh38]
Chr11:94335111 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1238G>A (p.Arg413His) single nucleotide variant Inborn genetic diseases [RCV002754283] Chr11:94595396 [GRCh38]
Chr11:94328562 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.2032T>C (p.Tyr678His) single nucleotide variant Inborn genetic diseases [RCV002990249] Chr11:94617971 [GRCh38]
Chr11:94351137 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 copy number loss not provided [RCV002475722] Chr11:81478509..104667040 [GRCh37]
Chr11:11q14.1-22.3
pathogenic
NM_152431.3(PIWIL4):c.915A>T (p.Arg305Ser) single nucleotide variant Inborn genetic diseases [RCV002864265] Chr11:94589121 [GRCh38]
Chr11:94322287 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1306C>A (p.Leu436Met) single nucleotide variant Inborn genetic diseases [RCV002905722] Chr11:94597841 [GRCh38]
Chr11:94331007 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.49A>C (p.Ser17Arg) single nucleotide variant Inborn genetic diseases [RCV002732661] Chr11:94567567 [GRCh38]
Chr11:94300733 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.2186T>C (p.Ile729Thr) single nucleotide variant Inborn genetic diseases [RCV002945996] Chr11:94619777 [GRCh38]
Chr11:94352943 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q21(chr11:94344842-94430838)x1 copy number loss not provided [RCV002475596] Chr11:94344842..94430838 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.655A>G (p.Met219Val) single nucleotide variant Inborn genetic diseases [RCV002911524] Chr11:94585464 [GRCh38]
Chr11:94318630 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.437G>T (p.Ser146Ile) single nucleotide variant Inborn genetic diseases [RCV002757396] Chr11:94577416 [GRCh38]
Chr11:94310582 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.2329C>T (p.Arg777Trp) single nucleotide variant Inborn genetic diseases [RCV002758273] Chr11:94620031 [GRCh38]
Chr11:94353197 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1375C>T (p.His459Tyr) single nucleotide variant Inborn genetic diseases [RCV002694033] Chr11:94597910 [GRCh38]
Chr11:94331076 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1853T>C (p.Met618Thr) single nucleotide variant Inborn genetic diseases [RCV002758055] Chr11:94608596 [GRCh38]
Chr11:94341762 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1602A>C (p.Arg534Ser) single nucleotide variant Inborn genetic diseases [RCV002641176] Chr11:94604020 [GRCh38]
Chr11:94337186 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.680A>G (p.Tyr227Cys) single nucleotide variant Inborn genetic diseases [RCV002802918] Chr11:94585489 [GRCh38]
Chr11:94318655 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1828G>C (p.Val610Leu) single nucleotide variant Inborn genetic diseases [RCV002956606] Chr11:94607628 [GRCh38]
Chr11:94340794 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1399G>A (p.Ala467Thr) single nucleotide variant Inborn genetic diseases [RCV002929311] Chr11:94601813 [GRCh38]
Chr11:94334979 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1810G>A (p.Gly604Arg) single nucleotide variant Inborn genetic diseases [RCV002939837] Chr11:94607610 [GRCh38]
Chr11:94340776 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.662A>G (p.Gln221Arg) single nucleotide variant Inborn genetic diseases [RCV002878029] Chr11:94585471 [GRCh38]
Chr11:94318637 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.2222C>A (p.Thr741Asn) single nucleotide variant Inborn genetic diseases [RCV002835900] Chr11:94619813 [GRCh38]
Chr11:94352979 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.2515A>C (p.Lys839Gln) single nucleotide variant Inborn genetic diseases [RCV002656695] Chr11:94620948 [GRCh38]
Chr11:94354114 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.130A>G (p.Asn44Asp) single nucleotide variant Inborn genetic diseases [RCV002657498] Chr11:94568772 [GRCh38]
Chr11:94301938 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1726T>C (p.Cys576Arg) single nucleotide variant Inborn genetic diseases [RCV003201838] Chr11:94607526 [GRCh38]
Chr11:94340692 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1237C>T (p.Arg413Cys) single nucleotide variant Inborn genetic diseases [RCV003220960] Chr11:94595395 [GRCh38]
Chr11:94328561 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1256A>G (p.Asp419Gly) single nucleotide variant Inborn genetic diseases [RCV003214650] Chr11:94595414 [GRCh38]
Chr11:94328580 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.2252C>A (p.Pro751Gln) single nucleotide variant Inborn genetic diseases [RCV003198104] Chr11:94619843 [GRCh38]
Chr11:94353009 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.508G>A (p.Glu170Lys) single nucleotide variant Inborn genetic diseases [RCV003189953] Chr11:94577487 [GRCh38]
Chr11:94310653 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1774G>A (p.Ala592Thr) single nucleotide variant Inborn genetic diseases [RCV003202375] Chr11:94607574 [GRCh38]
Chr11:94340740 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q21(chr11:94126651-94331081)x1 copy number loss not provided [RCV003334143] Chr11:94126651..94331081 [GRCh37]
Chr11:11q21
likely pathogenic
NM_152431.3(PIWIL4):c.2344C>G (p.Pro782Ala) single nucleotide variant Inborn genetic diseases [RCV003376393] Chr11:94620046 [GRCh38]
Chr11:94353212 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.2052G>A (p.Leu684=) single nucleotide variant not provided [RCV003396022] Chr11:94617991 [GRCh38]
Chr11:94351157 [GRCh37]
Chr11:11q21
likely benign
NM_152431.3(PIWIL4):c.1400C>G (p.Ala467Gly) single nucleotide variant Inborn genetic diseases [RCV003383700] Chr11:94601814 [GRCh38]
Chr11:94334980 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q21(chr11:94130774-94676552)x1 copy number loss not provided [RCV003483135] Chr11:94130774..94676552 [GRCh37]
Chr11:11q21
uncertain significance
NM_152431.3(PIWIL4):c.1914C>T (p.Cys638=) single nucleotide variant not provided [RCV003390125] Chr11:94608657 [GRCh38]
Chr11:94341823 [GRCh37]
Chr11:11q21
likely benign
NM_152431.3(PIWIL4):c.1392G>A (p.Val464=) single nucleotide variant not provided [RCV003390124] Chr11:94601806 [GRCh38]
Chr11:94334972 [GRCh37]
Chr11:11q21
likely benign
NM_152431.3(PIWIL4):c.1944G>A (p.Arg648=) single nucleotide variant not provided [RCV003396021] Chr11:94616493 [GRCh38]
Chr11:94349659 [GRCh37]
Chr11:11q21
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1124
Count of miRNA genes:641
Interacting mature miRNAs:706
Transcripts:ENST00000299001, ENST00000446230, ENST00000537419, ENST00000543336, ENST00000545603
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.

Markers in Region
RH94119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,354,357 - 94,354,517UniSTSGRCh37
Build 361193,994,005 - 93,994,165RGDNCBI36
Celera1191,642,166 - 91,642,326RGD
Cytogenetic Map11q21UniSTS
HuRef1190,419,556 - 90,419,716UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
D11S3455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,322,709 - 94,322,905UniSTSGRCh37
Build 361193,962,357 - 93,962,553RGDNCBI36
Celera1191,610,518 - 91,610,714RGD
Cytogenetic Map11q21UniSTS
HuRef1190,387,905 - 90,388,101UniSTS
G02226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371194,322,708 - 94,322,905UniSTSGRCh37
Build 361193,962,356 - 93,962,553RGDNCBI36
Celera1191,610,517 - 91,610,714RGD
Cytogenetic Map11q21UniSTS
HuRef1190,387,904 - 90,388,101UniSTS
SHGC-57612  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q21UniSTS
HuRef1190,419,356 - 90,419,455UniSTS
TNG Radiation Hybrid Map1143675.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 52 261 16 15 24 16 111 7 21 2 267 4 3 108
Low 2365 2455 1456 383 1686 228 3702 1605 3589 341 1124 1502 161 1201 2315 3
Below cutoff 12 268 244 217 157 213 533 576 84 72 50 88 9 365 2

Sequence


RefSeq Acc Id: ENST00000299001   ⟹   ENSP00000299001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1194,567,368 - 94,621,421 (+)Ensembl
RefSeq Acc Id: ENST00000446230   ⟹   ENSP00000413838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1194,545,286 - 94,621,421 (+)Ensembl
RefSeq Acc Id: ENST00000537419   ⟹   ENSP00000439710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1194,617,789 - 94,621,113 (+)Ensembl
RefSeq Acc Id: ENST00000543336   ⟹   ENSP00000444575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1194,543,840 - 94,616,564 (+)Ensembl
RefSeq Acc Id: ENST00000545603   ⟹   ENSP00000440499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1194,567,691 - 94,583,496 (+)Ensembl
RefSeq Acc Id: NM_152431   ⟹   NP_689644
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,567,368 - 94,621,421 (+)NCBI
GRCh371194,279,876 - 94,354,587 (+)NCBI
Build 361193,940,182 - 93,994,234 (+)NCBI Archive
Celera1191,588,283 - 91,642,396 (+)RGD
HuRef1190,365,674 - 90,419,786 (+)ENTREZGENE
CHM1_11194,183,460 - 94,237,568 (+)NCBI
T2T-CHM13v2.01194,574,415 - 94,628,468 (+)NCBI
Sequence:
RefSeq Acc Id: NP_689644   ⟸   NM_152431
- UniProtKB: Q8N9V8 (UniProtKB/Swiss-Prot),   Q8N8G9 (UniProtKB/Swiss-Prot),   Q68CZ4 (UniProtKB/Swiss-Prot),   B4DEG5 (UniProtKB/Swiss-Prot),   Q8NEH2 (UniProtKB/Swiss-Prot),   Q7Z3Z4 (UniProtKB/Swiss-Prot),   A0A140VKG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000444575   ⟸   ENST00000543336
RefSeq Acc Id: ENSP00000440499   ⟸   ENST00000545603
RefSeq Acc Id: ENSP00000299001   ⟸   ENST00000299001
RefSeq Acc Id: ENSP00000439710   ⟸   ENST00000537419
RefSeq Acc Id: ENSP00000413838   ⟸   ENST00000446230
Protein Domains
PAZ   Piwi

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z3Z4-F1-model_v2 AlphaFold Q7Z3Z4 1-852 view protein structure

Promoters
RGD ID:6789237
Promoter ID:HG_KWN:13979
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:NM_152431
Position:
Human AssemblyChrPosition (strand)Source
Build 361193,940,001 - 93,940,501 (+)MPROMDB
RGD ID:7221849
Promoter ID:EPDNEW_H16669
Type:initiation region
Name:PIWIL4_2
Description:piwi like RNA-mediated gene silencing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16668  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381194,567,368 - 94,567,428EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18444 AgrOrtholog
COSMIC PIWIL4 COSMIC
Ensembl Genes ENSG00000134627 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000299001 ENTREZGENE
  ENST00000299001.11 UniProtKB/Swiss-Prot
  ENST00000446230.6 UniProtKB/Swiss-Prot
  ENST00000537419.1 UniProtKB/TrEMBL
  ENST00000543336.5 UniProtKB/Swiss-Prot
  ENST00000545603.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.420.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.2300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  paz domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134627 GTEx
HGNC ID HGNC:18444 ENTREZGENE
Human Proteome Map PIWIL4 Human Proteome Map
InterPro PAZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAZ_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Piwi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:143689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 143689 ENTREZGENE
OMIM 610315 OMIM
PANTHER EUKARYOTIC TRANSLATION INITIATION FACTOR 2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIWI-LIKE PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PAZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Piwi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38333 PharmGKB
PROSITE PAZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIWI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PAZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Piwi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF101690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53098 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VKG8 ENTREZGENE, UniProtKB/TrEMBL
  B4DEG5 ENTREZGENE
  F5GX26_HUMAN UniProtKB/TrEMBL
  F5H116_HUMAN UniProtKB/TrEMBL
  PIWL4_HUMAN UniProtKB/Swiss-Prot
  Q68CZ4 ENTREZGENE
  Q7Z3Z4 ENTREZGENE
  Q8N8G9 ENTREZGENE
  Q8N9V8 ENTREZGENE
  Q8NEH2 ENTREZGENE
UniProt Secondary B4DEG5 UniProtKB/Swiss-Prot
  Q68CZ4 UniProtKB/Swiss-Prot
  Q8N8G9 UniProtKB/Swiss-Prot
  Q8N9V8 UniProtKB/Swiss-Prot
  Q8NEH2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-26 PIWIL4  piwi like RNA-mediated gene silencing 4  PIWIL4  piwi-like RNA-mediated gene silencing 4  Symbol and/or name change 5135510 APPROVED
2013-02-20 PIWIL4  piwi-like RNA-mediated gene silencing 4  PIWIL4  piwi-like 4 (Drosophila)  Symbol and/or name change 5135510 APPROVED