Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | oligospermia | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20940137 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | oligospermia | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20940137 | |
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# | 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 |
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 |
PIWIL4 (Homo sapiens - human) |
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Piwil4 (Mus musculus - house mouse) |
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Piwil4 (Rattus norvegicus - Norway rat) |
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Piwil4 (Chinchilla lanigera - long-tailed chinchilla) |
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PIWIL4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PIWIL4 (Canis lupus familiaris - dog) |
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Piwil4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PIWIL4 (Sus scrofa - pig) |
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PIWIL4 (Chlorocebus sabaeus - green monkey) |
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Piwil4 (Heterocephalus glaber - naked mole-rat) |
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Variants in PIWIL4
46 total 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 |
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. |
RH94119 |
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D11S3455 |
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G02226 |
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SHGC-57612 |
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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 |
RefSeq Transcripts | NM_152431 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AB079366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF086344 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK093475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK096837 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK293616 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP000943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC031060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR749642 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB091271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HM005708 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF455451 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000299001 ⟹ ENSP00000299001 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000446230 ⟹ ENSP00000413838 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000537419 ⟹ ENSP00000439710 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000543336 ⟹ ENSP00000444575 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000545603 ⟹ ENSP00000440499 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_152431 ⟹ NP_689644 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_689644 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH31060 | (Get FASTA) | NCBI Sequence Viewer |
AEE61305 | (Get FASTA) | NCBI Sequence Viewer | |
BAC04179 | (Get FASTA) | NCBI Sequence Viewer | |
BAC04873 | (Get FASTA) | NCBI Sequence Viewer | |
BAC81341 | (Get FASTA) | NCBI Sequence Viewer | |
BAG57076 | (Get FASTA) | NCBI Sequence Viewer | |
CAH18436 | (Get FASTA) | NCBI Sequence Viewer | |
EAW66940 | (Get FASTA) | NCBI Sequence Viewer | |
EAW66941 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000299001 | ||
ENSP00000299001.6 | |||
ENSP00000413838.2 | |||
ENSP00000439710.1 | |||
ENSP00000440499.1 | |||
ENSP00000444575.1 | |||
GenBank Protein | Q7Z3Z4 | (Get FASTA) | NCBI Sequence Viewer |
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q7Z3Z4-F1-model_v2 | AlphaFold | Q7Z3Z4 | 1-852 | view protein structure |
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: |
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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: |
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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 |
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 |