Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | celiac disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:30097691 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | celiac disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:30097691 | |
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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:11279525 | PMID:12477932 | PMID:12906857 | PMID:14702039 | PMID:14736746 | PMID:15489334 | PMID:16377660 | PMID:19683485 | PMID:20460541 | PMID:20490325 | PMID:20846497 | PMID:20940137 |
PMID:21193640 | PMID:21575418 | PMID:21873635 | PMID:22110608 | PMID:22303479 | PMID:22748119 | PMID:22848678 | PMID:23104504 | PMID:23112866 | PMID:23292864 | PMID:23505323 | PMID:23992744 |
PMID:24077852 | PMID:24153179 | PMID:24524831 | PMID:25040173 | PMID:25113562 | PMID:25193865 | PMID:25384072 | PMID:25998509 | PMID:26026091 | PMID:26125915 | PMID:26373553 | PMID:26775345 |
PMID:27215085 | PMID:27602489 | PMID:27893851 | PMID:27894076 | PMID:28025795 | PMID:28103575 | PMID:28331090 | PMID:28393858 | PMID:28534979 | PMID:28545024 | PMID:28903391 | PMID:29286006 |
PMID:29301509 | PMID:29369786 | PMID:29555935 | PMID:29599319 | PMID:29676528 | PMID:30102404 | PMID:30523270 | PMID:31262447 | PMID:31322538 | PMID:31586073 | PMID:32006804 | PMID:32166374 |
PMID:33190089 | PMID:33455119 | PMID:33774220 | PMID:34738477 | PMID:34768750 | PMID:35182325 | PMID:35831314 | PMID:36153567 | PMID:37641092 |
PIWIL2 (Homo sapiens - human) |
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Piwil2 (Mus musculus - house mouse) |
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Piwil2 (Rattus norvegicus - Norway rat) |
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Piwil2 (Chinchilla lanigera - long-tailed chinchilla) |
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PIWIL2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PIWIL2 (Canis lupus familiaris - dog) |
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Piwil2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PIWIL2 (Sus scrofa - pig) |
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PIWIL2 (Chlorocebus sabaeus - green monkey) |
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Piwil2 (Heterocephalus glaber - naked mole-rat) |
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Variants in PIWIL2
44 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 | copy number gain | See cases [RCV000050294] | Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 | copy number loss | See cases [RCV000050297] | Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.3-21.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 | copy number gain | See cases [RCV000050912] | Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 | copy number gain | See cases [RCV000051145] | Chr8:12383584..36370018 [GRCh38] Chr8:12241093..36227536 [GRCh37] Chr8:12285464..36347088 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 | copy number gain | See cases [RCV000051206] | Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 | copy number gain | See cases [RCV000051110] | Chr8:12728904..41928741 [GRCh38] Chr8:12586413..41786259 [GRCh37] Chr8:12630784..41905416 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 | copy number gain | See cases [RCV000053629] | Chr8:12609975..37892000 [GRCh38] Chr8:12467484..37749518 [GRCh37] Chr8:12511855..37868676 [NCBI36] Chr8:8p23.1-11.23 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 | copy number gain | See cases [RCV000053630] | Chr8:12609975..43336172 [GRCh38] Chr8:12467484..43191315 [GRCh37] Chr8:12511855..43310472 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] | Chr8:12609975..43255410 [GRCh38] Chr8:12467484..43110553 [GRCh37] Chr8:12511855..43229710 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 | copy number gain | See cases [RCV000053632] | Chr8:12750796..43532444 [GRCh38] Chr8:12608305..43387587 [GRCh37] Chr8:12652676..43506744 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 | copy number gain | See cases [RCV000053633] | Chr8:12750796..29445409 [GRCh38] Chr8:12608305..29302926 [GRCh37] Chr8:12652676..29358845 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 | copy number gain | See cases [RCV000053635] | Chr8:14940110..47929925 [GRCh38] Chr8:14797619..48842485 [GRCh37] Chr8:14841990..49005038 [NCBI36] Chr8:8p22-q11.21 |
pathogenic |
GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3 | copy number gain | See cases [RCV000053636] | Chr8:21654619..23001935 [GRCh38] Chr8:21512131..22859448 [GRCh37] Chr8:21556411..22915393 [NCBI36] Chr8:8p21.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000053602] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] | Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 | copy number gain | See cases [RCV000053599] | Chr8:96310..30614703 [GRCh38] Chr8:46310..30472220 [GRCh37] Chr8:36310..30591762 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p21.3(chr8:21482945-22853239)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054236]|See cases [RCV000054236] | Chr8:21482945..22853239 [GRCh38] Chr8:21340456..22710752 [GRCh37] Chr8:21384736..22766697 [NCBI36] Chr8:8p21.3 |
pathogenic |
NM_001135721.1(PIWIL2):c.69G>A (p.Arg23=) | single nucleotide variant | Malignant melanoma [RCV000068240] | Chr8:22279455 [GRCh38] Chr8:22136968 [GRCh37] Chr8:22192913 [NCBI36] Chr8:8p21.3 |
not provided |
NM_001135721.1(PIWIL2):c.885G>A (p.Arg295=) | single nucleotide variant | Malignant melanoma [RCV000061774] | Chr8:22288565 [GRCh38] Chr8:22146078 [GRCh37] Chr8:22202023 [NCBI36] Chr8:8p21.3 |
not provided |
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 | copy number gain | See cases [RCV000135786] | Chr8:12609975..43673207 [GRCh38] Chr8:12467484..43528350 [GRCh37] Chr8:12511855..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 | copy number gain | See cases [RCV000135566] | Chr8:12383584..43673207 [GRCh38] Chr8:12241093..43528350 [GRCh37] Chr8:12285464..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 | copy number gain | See cases [RCV000136516] | Chr8:12728904..40169194 [GRCh38] Chr8:12586413..40026713 [GRCh37] Chr8:12630784..40145870 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 | copy number gain | See cases [RCV000135967] | Chr8:241530..23198398 [GRCh38] Chr8:191530..23055911 [GRCh37] Chr8:181530..23111856 [NCBI36] Chr8:8p23.3-21.3 |
pathogenic |
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 | copy number gain | See cases [RCV000136026] | Chr8:241605..24656971 [GRCh38] Chr8:191605..24514484 [GRCh37] Chr8:181605..24570374 [NCBI36] Chr8:8p23.3-21.2 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 | copy number gain | See cases [RCV000136825] | Chr8:12725750..30180521 [GRCh38] Chr8:12583259..30038037 [GRCh37] Chr8:12627630..30157579 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 | copy number gain | See cases [RCV000137249] | Chr8:12182421..43673207 [GRCh38] Chr8:12039930..43528350 [GRCh37] Chr8:12077339..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 | copy number gain | See cases [RCV000138058] | Chr8:12698495..35476082 [GRCh38] Chr8:12556004..35333600 [GRCh37] Chr8:12600375..35453142 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 | copy number gain | See cases [RCV000137807] | Chr8:226452..38021728 [GRCh38] Chr8:176452..37879246 [GRCh37] Chr8:166452..37998403 [NCBI36] Chr8:8p23.3-11.23 |
pathogenic|likely pathogenic |
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 | copy number gain | See cases [RCV000138831] | Chr8:241605..31091074 [GRCh38] Chr8:191605..30948590 [GRCh37] Chr8:181605..31068132 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 | copy number gain | See cases [RCV000138643] | Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 | copy number gain | See cases [RCV000138244] | Chr8:12382844..28625564 [GRCh38] Chr8:12240353..28483081 [GRCh37] Chr8:12284724..28539000 [NCBI36] Chr8:8p23.1-21.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 | copy number gain | See cases [RCV000139891] | Chr8:7141697..38695546 [GRCh38] Chr8:6999219..38553064 [GRCh37] Chr8:6986629..38672221 [NCBI36] Chr8:8p23.1-11.22 |
pathogenic |
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 | copy number gain | See cases [RCV000139770] | Chr8:12729023..39235934 [GRCh38] Chr8:12586532..39093453 [GRCh37] Chr8:12630903..39212610 [NCBI36] Chr8:8p23.1-11.22 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 | copy number gain | See cases [RCV000139796] | Chr8:12646123..43686843 [GRCh38] Chr8:12503632..43541986 [GRCh37] Chr8:12548003..43661143 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 | copy number gain | See cases [RCV000139549] | Chr8:11851113..37216333 [GRCh38] Chr8:11708622..37073851 [GRCh37] Chr8:11746031..37193009 [NCBI36] Chr8:8p23.1-11.23 |
pathogenic |
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 | copy number gain | See cases [RCV000141410] | Chr8:226452..34491890 [GRCh38] Chr8:176452..34349408 [GRCh37] Chr8:166452..34468950 [NCBI36] Chr8:8p23.3-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 | copy number gain | See cases [RCV000141808] | Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 | copy number gain | See cases [RCV000142021] | Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 | copy number gain | See cases [RCV000142858] | Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 | copy number loss | See cases [RCV000142516] | Chr8:12383584..29033946 [GRCh38] Chr8:12241093..28891463 [GRCh37] Chr8:12285464..28947382 [NCBI36] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 | copy number loss | See cases [RCV000142747] | Chr8:18972996..33619264 [GRCh38] Chr8:18830506..33476782 [GRCh37] Chr8:18874786..33596324 [NCBI36] Chr8:8p22-12 |
pathogenic |
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 | copy number gain | See cases [RCV000148092] | Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 | copy number gain | See cases [RCV000143508] | Chr8:12633490..40685533 [GRCh38] Chr8:12490999..40543052 [GRCh37] Chr8:12535370..40662209 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 | copy number gain | See cases [RCV000148249] | Chr8:12609975..42085703 [GRCh38] Chr8:12467484..41943221 [GRCh37] Chr8:12511855..42062378 [NCBI36] Chr8:8p23.1-11.21 |
pathogenic |
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 | copy number gain | See cases [RCV000148237] | Chr8:12728904..43673207 [GRCh38] Chr8:12586413..43528350 [GRCh37] Chr8:12630784..43647507 [NCBI36] Chr8:8p23.1-11.1 |
pathogenic |
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 | copy number loss | See cases [RCV000148252] | Chr8:2475295..27504279 [GRCh38] Chr8:2292235..27361796 [GRCh37] Chr8:2121457..27417713 [NCBI36] Chr8:8p23.2-21.1 |
pathogenic |
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 | copy number gain | See cases [RCV000203434] | Chr8:20478546..28986438 [GRCh37] Chr8:8p21.3-12 |
pathogenic |
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 | copy number gain | See cases [RCV000511325] | Chr8:12528482..39593802 [GRCh37] Chr8:8p23.1-11.22 |
pathogenic |
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 | copy number gain | See cases [RCV000239945] | Chr8:12580132..26774307 [GRCh37] Chr8:8p23.1-21.2 |
pathogenic |
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) | copy number gain | Autism [RCV000626542] | Chr8:12580104..25947329 [GRCh37] Chr8:8p23.1-21.2 |
pathogenic |
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 | copy number gain | See cases [RCV000449225] | Chr8:158048..30262760 [GRCh37] Chr8:8p23.3-12 |
pathogenic |
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) | copy number loss | See cases [RCV000447428] | Chr8:13091530..24483615 [GRCh37] Chr8:8p22-21.2 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 | copy number gain | See cases [RCV000447507] | Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 | copy number gain | See cases [RCV000447909] | Chr8:158048..43786723 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 | copy number gain | See cases [RCV000447913] | Chr8:12580132..43388233 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p21.3(chr8:22167513-22332527)x3 | copy number gain | See cases [RCV000448311] | Chr8:22167513..22332527 [GRCh37] Chr8:8p21.3 |
likely benign |
GRCh37/hg19 8p21.3(chr8:21521340-22492009)x4 | copy number gain | See cases [RCV000510404] | Chr8:21521340..22492009 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 | copy number loss | not provided [RCV000509389] | Chr8:16992973..32612724 [GRCh37] Chr8:8p22-12 |
not provided |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) | copy number gain | See cases [RCV000510234] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 | copy number gain | See cases [RCV000510571] | Chr8:12528482..33684786 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 | copy number gain | See cases [RCV000511028] | Chr8:11935023..43824035 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 | copy number gain | See cases [RCV000510899] | Chr8:11945855..34875355 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 | copy number gain | See cases [RCV000511095] | Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 | copy number gain | See cases [RCV000512169] | Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3 |
pathogenic |
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 | copy number gain | not provided [RCV000683041] | Chr8:8770948..27079636 [GRCh37] Chr8:8p23.1-21.2 |
pathogenic |
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 | copy number gain | not provided [RCV000683043] | Chr8:12552775..35935825 [GRCh37] Chr8:8p23.1-12 |
pathogenic |
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 | copy number gain | not provided [RCV000683042] | Chr8:1825200..24533193 [GRCh37] Chr8:8p23.3-21.2 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 | copy number gain | not provided [RCV000747254] | Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 | copy number gain | not provided [RCV000747248] | Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p21.3(chr8:22100833-22154133)x1 | copy number loss | not provided [RCV000747472] | Chr8:22100833..22154133 [GRCh37] Chr8:8p21.3 |
benign |
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 | copy number gain | not provided [RCV000762735] | Chr8:12556004..34374150 [GRCh37] Chr8:8p23.1-12 |
likely pathogenic |
Single allele | duplication | not provided [RCV000768452] | Chr8:12546855..35816855 [GRCh37] Chr8:8p23.1-12 |
likely pathogenic |
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1 | copy number loss | not provided [RCV000849161] | Chr8:21662847..24199218 [GRCh37] Chr8:8p21.3-21.2 |
pathogenic |
GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3 | copy number gain | not provided [RCV000846113] | Chr8:21717395..22395625 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3 | copy number gain | not provided [RCV000847279] | Chr8:20564910..22629124 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p21.3(chr8:22139159-22337479)x3 | copy number gain | not provided [RCV000846328] | Chr8:22139159..22337479 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 | copy number gain | not provided [RCV000848478] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
GRCh37/hg19 8p21.3(chr8:22151127-22225228)x3 | copy number gain | not provided [RCV000848914] | Chr8:22151127..22225228 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p21.3(chr8:22212779-22376721)x3 | copy number gain | not provided [RCV000848990] | Chr8:22212779..22376721 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1 | copy number loss | not provided [RCV000846265] | Chr8:21077580..22144930 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p21.3(chr8:22205522-22381979)x3 | copy number gain | not provided [RCV000847721] | Chr8:22205522..22381979 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.339G>C (p.Arg113Ser) | single nucleotide variant | Inborn genetic diseases [RCV003272064] | Chr8:22281429 [GRCh38] Chr8:22138942 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p21.3(chr8:22195112-22395309)x3 | copy number gain | not provided [RCV001006089] | Chr8:22195112..22395309 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_018068.5(PIWIL2):c.1664G>A (p.Arg555His) | single nucleotide variant | Inborn genetic diseases [RCV003273220] | Chr8:22308051 [GRCh38] Chr8:22165564 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 | copy number gain | not provided [RCV001260030] | Chr8:12528482..29886483 [GRCh37] Chr8:8p23.1-12 |
likely pathogenic |
GRCh37/hg19 8p21.3(chr8:22138904-22381334)x3 | copy number gain | not provided [RCV001259475] | Chr8:22138904..22381334 [GRCh37] Chr8:8p21.3 |
likely benign |
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) | copy number gain | Abnormal fetal cardiovascular morphology [RCV001291977] | Chr8:176814..43396776 [GRCh37] Chr8:8p23.3-11.1 |
pathogenic |
NM_018068.5(PIWIL2):c.397A>G (p.Met133Val) | single nucleotide variant | Inborn genetic diseases [RCV003241805] | Chr8:22281487 [GRCh38] Chr8:22139000 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) | copy number gain | Polydactyly [RCV002280629] | Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3 |
pathogenic |
NC_000008.10:g.(?_21900440)_(23564111_?)dup | duplication | Conotruncal heart malformations [RCV003107885]|not provided [RCV001928022] | Chr8:21900440..23564111 [GRCh37] Chr8:8p21.3-21.2 |
uncertain significance|no classifications from unflagged records |
GRCh37/hg19 8p21.3(chr8:21303187-22230498) | copy number gain | not specified [RCV002053755] | Chr8:21303187..22230498 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 | copy number gain | not provided [RCV002279745] | Chr8:19779604..26531980 [GRCh37] Chr8:8p21.3-21.2 |
pathogenic |
Single allele | complex | See cases [RCV002292428] | Chr8:6999114..11935023 [GRCh37] Chr8:8p23.3-11.21 |
pathogenic |
Single allele | complex | 8p inverted duplication/deletion syndrome [RCV002280753] | Chr8:158048..43019304 [GRCh37] Chr8:8p23.3-11.21 |
pathogenic |
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 | copy number loss | See cases [RCV002286343] | Chr8:158048..30187456 [GRCh37] Chr8:8p23.3-12 |
pathogenic |
NM_018068.5(PIWIL2):c.2490T>G (p.Ile830Met) | single nucleotide variant | Inborn genetic diseases [RCV002901167] | Chr8:22353045 [GRCh38] Chr8:22210558 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.328C>T (p.Arg110Cys) | single nucleotide variant | Inborn genetic diseases [RCV002990690] | Chr8:22281418 [GRCh38] Chr8:22138931 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.388G>T (p.Asp130Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002841887] | Chr8:22281478 [GRCh38] Chr8:22138991 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1198C>G (p.Gln400Glu) | single nucleotide variant | Inborn genetic diseases [RCV002773159] | Chr8:22304037 [GRCh38] Chr8:22161550 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1378T>C (p.Tyr460His) | single nucleotide variant | Inborn genetic diseases [RCV002778669] | Chr8:22304791 [GRCh38] Chr8:22162304 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1282C>T (p.Arg428Cys) | single nucleotide variant | Inborn genetic diseases [RCV002887527] | Chr8:22304121 [GRCh38] Chr8:22161634 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.2329T>G (p.Phe777Val) | single nucleotide variant | Inborn genetic diseases [RCV002660883] | Chr8:22318201 [GRCh38] Chr8:22175714 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.2155C>T (p.Leu719Phe) | single nucleotide variant | Inborn genetic diseases [RCV002738142] | Chr8:22315092 [GRCh38] Chr8:22172605 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.2818G>A (p.Val940Ile) | single nucleotide variant | Inborn genetic diseases [RCV002707649] | Chr8:22355401 [GRCh38] Chr8:22212914 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.428C>T (p.Thr143Met) | single nucleotide variant | Inborn genetic diseases [RCV002703754] | Chr8:22283036 [GRCh38] Chr8:22140549 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_018068.5(PIWIL2):c.2123C>T (p.Thr708Ile) | single nucleotide variant | Inborn genetic diseases [RCV002868635] | Chr8:22315060 [GRCh38] Chr8:22172573 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.599G>A (p.Arg200His) | single nucleotide variant | Inborn genetic diseases [RCV002738459] | Chr8:22283207 [GRCh38] Chr8:22140720 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_018068.5(PIWIL2):c.1270A>G (p.Asn424Asp) | single nucleotide variant | Inborn genetic diseases [RCV002869221] | Chr8:22304109 [GRCh38] Chr8:22161622 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.2131C>T (p.Arg711Trp) | single nucleotide variant | Inborn genetic diseases [RCV002925908] | Chr8:22315068 [GRCh38] Chr8:22172581 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.91G>A (p.Ala31Thr) | single nucleotide variant | Inborn genetic diseases [RCV002739801] | Chr8:22279477 [GRCh38] Chr8:22136990 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1265A>G (p.Tyr422Cys) | single nucleotide variant | Inborn genetic diseases [RCV002742339] | Chr8:22304104 [GRCh38] Chr8:22161617 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.536G>A (p.Arg179Gln) | single nucleotide variant | Inborn genetic diseases [RCV002789853] | Chr8:22283144 [GRCh38] Chr8:22140657 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.2884C>G (p.Pro962Ala) | single nucleotide variant | Inborn genetic diseases [RCV002954839] | Chr8:22355467 [GRCh38] Chr8:22212980 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1065C>G (p.His355Gln) | single nucleotide variant | Inborn genetic diseases [RCV002827569] | Chr8:22289925 [GRCh38] Chr8:22147438 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1844T>G (p.Met615Arg) | single nucleotide variant | Inborn genetic diseases [RCV002893549] | Chr8:22311155 [GRCh38] Chr8:22168668 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.2184G>T (p.Glu728Asp) | single nucleotide variant | Inborn genetic diseases [RCV002787582] | Chr8:22315121 [GRCh38] Chr8:22172634 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1223A>G (p.Glu408Gly) | single nucleotide variant | Inborn genetic diseases [RCV002674993] | Chr8:22304062 [GRCh38] Chr8:22161575 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.100C>A (p.Pro34Thr) | single nucleotide variant | Inborn genetic diseases [RCV002940225] | Chr8:22279486 [GRCh38] Chr8:22136999 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.2669A>G (p.Tyr890Cys) | single nucleotide variant | Inborn genetic diseases [RCV002674607] | Chr8:22354282 [GRCh38] Chr8:22211795 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.590C>T (p.Ser197Phe) | single nucleotide variant | Inborn genetic diseases [RCV002808525] | Chr8:22283198 [GRCh38] Chr8:22140711 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.581C>G (p.Pro194Arg) | single nucleotide variant | Inborn genetic diseases [RCV002941614] | Chr8:22283189 [GRCh38] Chr8:22140702 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.143G>C (p.Gly48Ala) | single nucleotide variant | Inborn genetic diseases [RCV002895955] | Chr8:22279529 [GRCh38] Chr8:22137042 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.380C>T (p.Ala127Val) | single nucleotide variant | Inborn genetic diseases [RCV002669704] | Chr8:22281470 [GRCh38] Chr8:22138983 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.571C>T (p.Pro191Ser) | single nucleotide variant | Inborn genetic diseases [RCV002936225] | Chr8:22283179 [GRCh38] Chr8:22140692 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1697G>T (p.Arg566Leu) | single nucleotide variant | Inborn genetic diseases [RCV003212697] | Chr8:22309971 [GRCh38] Chr8:22167484 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1652G>A (p.Arg551His) | single nucleotide variant | Inborn genetic diseases [RCV003205465] | Chr8:22308039 [GRCh38] Chr8:22165552 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1274G>A (p.Arg425His) | single nucleotide variant | Inborn genetic diseases [RCV003184019] | Chr8:22304113 [GRCh38] Chr8:22161626 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1241T>C (p.Val414Ala) | single nucleotide variant | Inborn genetic diseases [RCV003212373] | Chr8:22304080 [GRCh38] Chr8:22161593 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.329G>A (p.Arg110His) | single nucleotide variant | Inborn genetic diseases [RCV003174237] | Chr8:22281419 [GRCh38] Chr8:22138932 [GRCh37] Chr8:8p21.3 |
likely benign |
GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1 | copy number loss | not provided [RCV003223292] | Chr8:21925038..26372195 [GRCh37] Chr8:8p21.3-21.2 |
likely pathogenic |
NM_018068.5(PIWIL2):c.2464C>G (p.Leu822Val) | single nucleotide variant | Inborn genetic diseases [RCV003191644] | Chr8:22353019 [GRCh38] Chr8:22210532 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.2790G>A (p.Met930Ile) | single nucleotide variant | Inborn genetic diseases [RCV003203279] | Chr8:22355373 [GRCh38] Chr8:22212886 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.452C>T (p.Ala151Val) | single nucleotide variant | Inborn genetic diseases [RCV003183053] | Chr8:22283060 [GRCh38] Chr8:22140573 [GRCh37] Chr8:8p21.3 |
likely benign |
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 | copy number loss | Microcephaly [RCV003327707] | Chr8:12721809..30183737 [GRCh38] Chr8:8p23.1-12 |
pathogenic |
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 | copy number loss | Neurodevelopmental disorder [RCV003327729] | Chr8:449893..23854904 [GRCh38] Chr8:8p23.3-21.2 |
pathogenic |
NM_018068.5(PIWIL2):c.613A>C (p.Thr205Pro) | single nucleotide variant | Inborn genetic diseases [RCV003356892] | Chr8:22283221 [GRCh38] Chr8:22140734 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.29G>A (p.Gly10Asp) | single nucleotide variant | Inborn genetic diseases [RCV003381090] | Chr8:22279415 [GRCh38] Chr8:22136928 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.526A>G (p.Thr176Ala) | single nucleotide variant | Inborn genetic diseases [RCV003360461] | Chr8:22283134 [GRCh38] Chr8:22140647 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_018068.5(PIWIL2):c.1483C>T (p.Pro495Ser) | single nucleotide variant | Inborn genetic diseases [RCV003356191] | Chr8:22305954 [GRCh38] Chr8:22163467 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.2320C>T (p.Arg774Trp) | single nucleotide variant | Inborn genetic diseases [RCV003350451] | Chr8:22318192 [GRCh38] Chr8:22175705 [GRCh37] Chr8:8p21.3 |
uncertain significance |
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 | copy number loss | not provided [RCV003483018] | Chr8:12490999..28150620 [GRCh37] Chr8:8p23.1-21.1 |
pathogenic |
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 | copy number gain | not provided [RCV003484713] | Chr8:2201405..41723095 [GRCh37] Chr8:8p23.2-11.21 |
pathogenic |
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 | copy number gain | not provided [RCV003484724] | Chr8:12560782..38748763 [GRCh37] Chr8:8p23.1-11.22 |
pathogenic |
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 | copy number gain | not provided [RCV003484725] | Chr8:14240573..43824035 [GRCh37] Chr8:8p22-11.1 |
pathogenic |
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 | copy number gain | not provided [RCV003484722] | Chr8:11945856..37902453 [GRCh37] Chr8:8p23.1-11.23 |
pathogenic |
Single allele | duplication | not provided [RCV003448693] | Chr8:12530550..43483193 [GRCh37] Chr8:8p23.1-11.1 |
pathogenic |
NM_018068.5(PIWIL2):c.1678G>A (p.Val560Ile) | single nucleotide variant | not provided [RCV003436791] | Chr8:22308065 [GRCh38] Chr8:22165578 [GRCh37] Chr8:8p21.3 |
uncertain significance |
Single allele | duplication | not provided [RCV003448690] | Chr8:20868762..22701502 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_018068.5(PIWIL2):c.1688T>C (p.Ile563Thr) | single nucleotide variant | not provided [RCV003436792] | Chr8:22309962 [GRCh38] Chr8:22167475 [GRCh37] Chr8:8p21.3 |
uncertain significance |
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. |
SHGC-110848 |
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SHGC-155028 |
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PIWIL2__7002 |
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D11S2921 |
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D8S2279 |
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D1S1425 |
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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 | 5 | 3 | 2 | 3 | 23 | 6 | 12 | 392 | 5 | 9 | ||||||
Low | 2034 | 1506 | 1144 | 371 | 498 | 251 | 3968 | 1454 | 2494 | 115 | 825 | 1081 | 126 | 1107 | 2602 | |
Below cutoff | 391 | 1423 | 574 | 249 | 1238 | 211 | 363 | 731 | 1205 | 268 | 222 | 508 | 46 | 97 | 177 | 4 |
RefSeq Transcripts | NM_001135721 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001330480 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_018068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005273551 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047421925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054360748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB079367 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC105206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC105910 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK000397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK001213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK027497 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK056418 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK292440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC025995 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC111751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC403636 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HM005454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HQ651229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY030065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KF651165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KJ534584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KM434336 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000356766 ⟹ ENSP00000349208 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000454009 ⟹ ENSP00000406956 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000519884 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000521356 ⟹ ENSP00000428267 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000611073 ⟹ ENSP00000478103 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001135721 ⟹ NP_001129193 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001330480 ⟹ NP_001317409 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_018068 ⟹ NP_060538 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005273551 ⟹ XP_005273608 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047421924 ⟹ XP_047277880 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047421925 ⟹ XP_047277881 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054360746 ⟹ XP_054216721 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054360747 ⟹ XP_054216722 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054360748 ⟹ XP_054216723 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001129193 | (Get FASTA) | NCBI Sequence Viewer |
NP_001317409 | (Get FASTA) | NCBI Sequence Viewer | |
NP_060538 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005273608 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277880 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047277881 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216721 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216722 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054216723 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH25995 | (Get FASTA) | NCBI Sequence Viewer |
AAI11752 | (Get FASTA) | NCBI Sequence Viewer | |
ADV17663 | (Get FASTA) | NCBI Sequence Viewer | |
AEE61052 | (Get FASTA) | NCBI Sequence Viewer | |
AHF72552 | (Get FASTA) | NCBI Sequence Viewer | |
AHZ89834 | (Get FASTA) | NCBI Sequence Viewer | |
AIY32628 | (Get FASTA) | NCBI Sequence Viewer | |
BAA91558 | (Get FASTA) | NCBI Sequence Viewer | |
BAB55155 | (Get FASTA) | NCBI Sequence Viewer | |
BAC81342 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83727 | (Get FASTA) | NCBI Sequence Viewer | |
BAF85129 | (Get FASTA) | NCBI Sequence Viewer | |
BAF98721 | (Get FASTA) | NCBI Sequence Viewer | |
BAF98724 | (Get FASTA) | NCBI Sequence Viewer | |
BAG61134 | (Get FASTA) | NCBI Sequence Viewer | |
EAW63686 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000349208 | ||
ENSP00000349208.6 | |||
ENSP00000406956 | |||
ENSP00000406956.2 | |||
ENSP00000428267 | |||
ENSP00000428267.1 | |||
ENSP00000478103.1 | |||
GenBank Protein | Q8TC59 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_060538 ⟸ NM_018068 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q96SW6 (UniProtKB/Swiss-Prot), E7ECA4 (UniProtKB/Swiss-Prot), B4DR22 (UniProtKB/Swiss-Prot), B0AZP2 (UniProtKB/Swiss-Prot), B0AZN9 (UniProtKB/Swiss-Prot), A8K8S5 (UniProtKB/Swiss-Prot), A8K4S3 (UniProtKB/Swiss-Prot), Q9NW28 (UniProtKB/Swiss-Prot), Q8TC59 (UniProtKB/Swiss-Prot), W0HK13 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001129193 ⟸ NM_001135721 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q96SW6 (UniProtKB/Swiss-Prot), E7ECA4 (UniProtKB/Swiss-Prot), B4DR22 (UniProtKB/Swiss-Prot), B0AZP2 (UniProtKB/Swiss-Prot), B0AZN9 (UniProtKB/Swiss-Prot), A8K8S5 (UniProtKB/Swiss-Prot), A8K4S3 (UniProtKB/Swiss-Prot), Q9NW28 (UniProtKB/Swiss-Prot), Q8TC59 (UniProtKB/Swiss-Prot), W0HK13 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005273608 ⟸ XM_005273551 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | NP_001317409 ⟸ NM_001330480 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q8TC59 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000406956 ⟸ ENST00000454009 |
RefSeq Acc Id: | ENSP00000478103 ⟸ ENST00000611073 |
RefSeq Acc Id: | ENSP00000428267 ⟸ ENST00000521356 |
RefSeq Acc Id: | ENSP00000349208 ⟸ ENST00000356766 |
RefSeq Acc Id: | XP_047277880 ⟸ XM_047421924 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_047277881 ⟸ XM_047421925 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054216722 ⟸ XM_054360747 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054216721 ⟸ XM_054360746 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054216723 ⟸ XM_054360748 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8TC59-F1-model_v2 | AlphaFold | Q8TC59 | 1-973 | view protein structure |
RGD ID: | 6806926 | ||||||||
Promoter ID: | HG_KWN:60885 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3 | ||||||||
Transcripts: | UC003XBO.1 | ||||||||
Position: |
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RGD ID: | 7212801 | ||||||||
Promoter ID: | EPDNEW_H12146 | ||||||||
Type: | initiation region | ||||||||
Name: | PIWIL2_1 | ||||||||
Description: | piwi like RNA-mediated gene silencing 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:17644 | AgrOrtholog |
COSMIC | PIWIL2 | COSMIC |
Ensembl Genes | ENSG00000197181 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000356766 | ENTREZGENE |
ENST00000356766.11 | UniProtKB/Swiss-Prot | |
ENST00000454009 | ENTREZGENE | |
ENST00000454009.6 | UniProtKB/Swiss-Prot | |
ENST00000521356 | ENTREZGENE | |
ENST00000521356.5 | UniProtKB/Swiss-Prot | |
ENST00000611073.1 | UniProtKB/Swiss-Prot | |
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 | ENSG00000197181 | GTEx |
HGNC ID | HGNC:17644 | ENTREZGENE |
Human Proteome Map | PIWIL2 | Human Proteome Map |
InterPro | ArgoL1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
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:55124 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 55124 | ENTREZGENE |
OMIM | 610312 | OMIM |
PANTHER | EUKARYOTIC TRANSLATION INITIATION FACTOR 2C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PIWI-LIKE PROTEIN 2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | ArgoL1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PAZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Piwi | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA38461 | PharmGKB |
PROSITE | PAZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PIWI | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | DUF1785 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
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 | A0A059V6Y7_HUMAN | UniProtKB/TrEMBL |
A8K4S3 | ENTREZGENE | |
A8K8S5 | ENTREZGENE | |
B0AZN9 | ENTREZGENE | |
B0AZP2 | ENTREZGENE | |
B4DR22 | ENTREZGENE | |
E7ECA4 | ENTREZGENE | |
PIWL2_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q96SW6 | ENTREZGENE | |
Q9NW28 | ENTREZGENE | |
W0HK13 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | A8K4S3 | UniProtKB/Swiss-Prot |
A8K8S5 | UniProtKB/Swiss-Prot | |
B0AZN9 | UniProtKB/Swiss-Prot | |
B0AZP2 | UniProtKB/Swiss-Prot | |
B4DR22 | UniProtKB/Swiss-Prot | |
E7ECA4 | UniProtKB/Swiss-Prot | |
Q96SW6 | UniProtKB/Swiss-Prot | |
Q9NW28 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-04-26 | PIWIL2 | piwi like RNA-mediated gene silencing 2 | PIWIL2 | piwi-like RNA-mediated gene silencing 2 | Symbol and/or name change | 5135510 | APPROVED |
2013-02-20 | PIWIL2 | piwi-like RNA-mediated gene silencing 2 | PIWIL2 | piwi-like 2 (Drosophila) | Symbol and/or name change | 5135510 | APPROVED |