Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Molecular profiling of laser-microdissected matched tumor and normal breast tissue identifies karyopherin alpha2 as a potential novel prognostic marker in breast cancer. | Dahl E, etal., Clin Cancer Res. 2006 Jul 1;12(13):3950-60. |
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:12477932 | PMID:17590538 | PMID:20379614 | PMID:21873635 | PMID:23535033 | PMID:24623722 | PMID:25416956 | PMID:28851360 | PMID:30361512 | PMID:32296183 | PMID:33961781 |
PLPP4 (Homo sapiens - human) |
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Plpp4 (Mus musculus - house mouse) |
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Plpp4 (Rattus norvegicus - Norway rat) |
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Plpp4 (Chinchilla lanigera - long-tailed chinchilla) |
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PLPP4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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PLPP4 (Canis lupus familiaris - dog) |
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Plpp4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PLPP4 (Sus scrofa - pig) |
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PLPP4 (Chlorocebus sabaeus - green monkey) |
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Plpp4 (Heterocephalus glaber - naked mole-rat) |
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Variants in PLPP4
13 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3 | copy number gain | See cases [RCV000050701] | Chr10:119273012..123117390 [GRCh38] Chr10:121032524..124876906 [GRCh37] Chr10:121022514..124866896 [NCBI36] Chr10:10q26.11-26.13 |
pathogenic |
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 | copy number gain | See cases [RCV000051218] | Chr10:111313099..133620674 [GRCh38] Chr10:113072857..135434178 [GRCh37] Chr10:113062847..135284168 [NCBI36] Chr10:10q25.2-26.3 |
pathogenic |
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 | copy number loss | See cases [RCV000051103] | Chr10:120454430..133620674 [GRCh38] Chr10:122213942..135434178 [GRCh37] Chr10:122203932..135284168 [NCBI36] Chr10:10q26.12-26.3 |
pathogenic |
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] | Chr10:91048545..133620674 [GRCh38] Chr10:92808302..135434178 [GRCh37] Chr10:92798282..135284168 [NCBI36] Chr10:10q23.31-26.3 |
pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 | copy number gain | See cases [RCV000053564] | Chr10:100194215..132432797 [GRCh38] Chr10:101953972..134246301 [GRCh37] Chr10:101943962..134096291 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 | copy number gain | See cases [RCV000053588] | Chr10:106925303..133620815 [GRCh38] Chr10:108685061..135434319 [GRCh37] Chr10:108675051..135284309 [NCBI36] Chr10:10q25.1-26.3 |
pathogenic |
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 | copy number gain | See cases [RCV000053589] | Chr10:117866565..133554210 [GRCh38] Chr10:119626076..135367714 [GRCh37] Chr10:119616066..135217704 [NCBI36] Chr10:10q26.11-26.3 |
pathogenic |
NM_001030059.1(PPAPDC1A):c.445+7313G>T | single nucleotide variant | Lung cancer [RCV000108749] | Chr10:120528408 [GRCh38] Chr10:122287920 [GRCh37] Chr10:10q26.12 |
uncertain significance |
NM_001030059.1(PPAPDC1A):c.446-19391C>T | single nucleotide variant | Lung cancer [RCV000108750] | Chr10:120555740 [GRCh38] Chr10:122315252 [GRCh37] Chr10:10q26.12 |
uncertain significance |
NM_001030059.1(PPAPDC1A):c.446-14260T>A | single nucleotide variant | Lung cancer [RCV000108751] | Chr10:120560871 [GRCh38] Chr10:122320383 [GRCh37] Chr10:10q26.12 |
uncertain significance |
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 | copy number gain | See cases [RCV000133688] | Chr10:108102587..133620674 [GRCh38] Chr10:109862345..135434178 [GRCh37] Chr10:109852335..135284168 [NCBI36] Chr10:10q25.1-26.3 |
pathogenic |
GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3 | copy number gain | See cases [RCV000137511] | Chr10:112701186..120970617 [GRCh38] Chr10:114460945..122730130 [GRCh37] Chr10:114450935..122720120 [NCBI36] Chr10:10q25.2-26.12 |
likely pathogenic |
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 | copy number gain | See cases [RCV000137747] | Chr10:100600492..133622588 [GRCh38] Chr10:102360249..135436092 [GRCh37] Chr10:102350239..135286082 [NCBI36] Chr10:10q24.31-26.3 |
pathogenic |
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 | copy number gain | See cases [RCV000142005] | Chr10:119707856..133613639 [GRCh38] Chr10:121467368..135427143 [GRCh37] Chr10:121457358..135277133 [NCBI36] Chr10:10q26.11-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1 | copy number loss | See cases [RCV000240153] | Chr10:122239239..128203032 [GRCh37] Chr10:10q26.12-26.2 |
pathogenic |
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 | copy number gain | See cases [RCV000240457] | Chr10:103288313..135512075 [GRCh37] Chr10:10q24.32-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 | copy number gain | See cases [RCV000449169] | Chr10:122125760..135062972 [GRCh37] Chr10:10q26.12-26.3 |
likely pathogenic |
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 | copy number gain | See cases [RCV000449386] | Chr10:104633712..135427143 [GRCh37] Chr10:10q24.32-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 | copy number loss | See cases [RCV000446095] | Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 | copy number gain | See cases [RCV000446733] | Chr10:100780957..135427143 [GRCh37] Chr10:10q24.2-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 | copy number gain | See cases [RCV000448750] | Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) | copy number gain | See cases [RCV000511389] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 | copy number gain | See cases [RCV000510813] | Chr10:106003533..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 | copy number gain | See cases [RCV000510972] | Chr10:93283493..135427143 [GRCh37] Chr10:10q23.32-26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 | copy number gain | See cases [RCV000510861] | Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_001030059.3(PLPP4):c.331G>A (p.Asp111Asn) | single nucleotide variant | Inborn genetic diseases [RCV003247219] | Chr10:120520981 [GRCh38] Chr10:122280493 [GRCh37] Chr10:10q26.12 |
uncertain significance |
NM_001030059.3(PLPP4):c.771C>T (p.Ser257=) | single nucleotide variant | Inborn genetic diseases [RCV003273226] | Chr10:120589457 [GRCh38] Chr10:122348969 [GRCh37] Chr10:10q26.12 |
likely benign |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] | Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 | copy number gain | not provided [RCV000683288] | Chr10:121269222..135427143 [GRCh37] Chr10:10q26.11-26.3 |
pathogenic |
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 | copy number gain | not provided [RCV000683290] | Chr10:105613040..135427143 [GRCh37] Chr10:10q24.33-26.3 |
pathogenic |
GRCh37/hg19 10q26.11-26.12(chr10:121659411-122322239)x1 | copy number loss | not provided [RCV000683244] | Chr10:121659411..122322239 [GRCh37] Chr10:10q26.11-26.12 |
uncertain significance |
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 | copy number gain | not provided [RCV000683291] | Chr10:94346520..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 | copy number gain | not provided [RCV000847820] | Chr10:114544537..135427143 [GRCh37] Chr10:10q25.2-26.3 |
pathogenic |
GRCh37/hg19 10q26.12(chr10:122224799-122228534)x0 | copy number loss | not provided [RCV000737302] | Chr10:122224799..122228534 [GRCh37] Chr10:10q26.12 |
benign |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 | copy number gain | not provided [RCV000749464] | Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) | copy number gain | not provided [RCV000767665] | Chr10:110022170..135439095 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) | copy number loss | Distal 10q deletion syndrome [RCV000767564] | Chr10:117024753..124942806 [GRCh37] Chr10:10q25.3-26.13 |
pathogenic |
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 | copy number gain | not provided [RCV001006356] | Chr10:119996339..135427143 [GRCh37] Chr10:10q26.11-26.3 |
pathogenic |
Single allele | deletion | not provided [RCV001391678] | Chr10:119302758..124813305 [GRCh37] Chr10:10q26.11-26.13 |
likely pathogenic |
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 | copy number gain | not provided [RCV001537903] | Chr10:118247181..135435319 [GRCh37] Chr10:10q25.3-26.3 |
pathogenic |
GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1 | copy number loss | Astigmatism [RCV001801230] | Chr10:118891670..122349064 [GRCh37] Chr10:10q25.3-26.12 |
uncertain significance |
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) | copy number gain | not specified [RCV002052891] | Chr10:108455687..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066) | copy number loss | not specified [RCV002052892] | Chr10:117019650..125217066 [GRCh37] Chr10:10q25.3-26.13 |
pathogenic |
GRCh37/hg19 10q26.11-26.13(chr10:120782191-123155522) | copy number gain | not specified [RCV002052893] | Chr10:120782191..123155522 [GRCh37] Chr10:10q26.11-26.13 |
uncertain significance |
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) | copy number loss | not specified [RCV002052895] | Chr10:122343861..135427143 [GRCh37] Chr10:10q26.12-26.3 |
pathogenic |
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972) | copy number gain | not specified [RCV002052894] | Chr10:122125760..135062972 [GRCh37] Chr10:10q26.12-26.3 |
likely pathogenic |
GRCh37/hg19 10q26.12(chr10:121819687-122603004)x3 | copy number gain | not provided [RCV002474662] | Chr10:121819687..122603004 [GRCh37] Chr10:10q26.12 |
uncertain significance |
NM_001030059.3(PLPP4):c.496C>T (p.His166Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002822947] | Chr10:120575181 [GRCh38] Chr10:122334693 [GRCh37] Chr10:10q26.12 |
uncertain significance |
NM_001030059.3(PLPP4):c.508G>C (p.Glu170Gln) | single nucleotide variant | Inborn genetic diseases [RCV002891808] | Chr10:120575193 [GRCh38] Chr10:122334705 [GRCh37] Chr10:10q26.12 |
uncertain significance |
NM_001030059.3(PLPP4):c.230A>C (p.Lys77Thr) | single nucleotide variant | Inborn genetic diseases [RCV002714037] | Chr10:120513975 [GRCh38] Chr10:122273487 [GRCh37] Chr10:10q26.12 |
uncertain significance |
NM_001030059.3(PLPP4):c.501C>G (p.Cys167Trp) | single nucleotide variant | Inborn genetic diseases [RCV003008567] | Chr10:120575186 [GRCh38] Chr10:122334698 [GRCh37] Chr10:10q26.12 |
uncertain significance |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319583] | Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) | copy number gain | Distal trisomy 10q [RCV003319593] | Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 | copy number gain | not provided [RCV003484817] | Chr10:111447991..133435388 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 | copy number gain | Distal trisomy 10q [RCV003458955] | Chr10:111378692..135427143 [GRCh37] Chr10:10q25.1-26.3 |
pathogenic |
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3 | copy number gain | not specified [RCV003986891] | Chr10:107129993..123817654 [GRCh37] Chr10:10q25.1-26.13 |
likely pathogenic |
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 | copy number gain | not specified [RCV003986893] | Chr10:95078198..135427143 [GRCh37] Chr10:10q23.33-26.3 |
pathogenic |
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. |
D10S1757 |
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D10S209 |
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U64670 |
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SHGC-35172 |
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RH44621 |
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G60313 |
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G62583 |
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SHGC-142790 |
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SHGC-143619 |
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SHGC-147463 |
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U64671 |
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PPAPDC1__5754 |
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D10S209 |
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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 | 1 | |||||||||||||||
Medium | 7 | 14 | 7 | 10 | 8 | 54 | 11 | 878 | 35 | 285 | 40 | 2 | 1 | 5 | ||
Low | 1378 | 143 | 571 | 234 | 154 | 218 | 1666 | 634 | 2553 | 289 | 713 | 427 | 19 | 321 | 996 | |
Below cutoff | 882 | 2045 | 935 | 316 | 864 | 187 | 2032 | 997 | 279 | 74 | 354 | 958 | 131 | 747 | 1267 | 1 |
RefSeq Acc Id: | ENST00000369073 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000398250 ⟹ ENSP00000381302 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000496437 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001030059 ⟹ NP_001025230 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001318166 ⟹ NP_001305095 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001318167 ⟹ NP_001305096 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001318168 ⟹ NP_001305097 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001318169 ⟹ NP_001305098 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_134516 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005269592 ⟹ XP_005269649 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006717686 ⟹ XP_006717749 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011539444 ⟹ XP_011537746 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017015821 ⟹ XP_016871310 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017015822 ⟹ XP_016871311 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017015823 ⟹ XP_016871312 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_024447862 ⟹ XP_024303630 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047424709 ⟹ XP_047280665 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047424710 ⟹ XP_047280666 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054364983 ⟹ XP_054220958 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054364984 ⟹ XP_054220959 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054364985 ⟹ XP_054220960 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054364986 ⟹ XP_054220961 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054364987 ⟹ XP_054220962 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054364988 ⟹ XP_054220963 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054364989 ⟹ XP_054220964 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054364990 ⟹ XP_054220965 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054364991 ⟹ XP_054220966 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_001025230 ⟸ NM_001030059 |
- Peptide Label: | isoform a |
- UniProtKB: | Q495B4 (UniProtKB/Swiss-Prot), Q0IIP2 (UniProtKB/Swiss-Prot), Q08EQ2 (UniProtKB/Swiss-Prot), A2RU82 (UniProtKB/Swiss-Prot), Q5VZY1 (UniProtKB/Swiss-Prot), Q5VZY2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005269649 ⟸ XM_005269592 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_006717749 ⟸ XM_006717686 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_011537746 ⟸ XM_011539444 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | NP_001305095 ⟸ NM_001318166 |
- Peptide Label: | isoform b |
- UniProtKB: | Q5VZY2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001305096 ⟸ NM_001318167 |
- Peptide Label: | isoform c |
- UniProtKB: | Q5VZY2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001305097 ⟸ NM_001318168 |
- Peptide Label: | isoform d |
- UniProtKB: | Q5VZY2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001305098 ⟸ NM_001318169 |
- Peptide Label: | isoform e |
- UniProtKB: | Q5VZY2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016871312 ⟸ XM_017015823 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_016871311 ⟸ XM_017015822 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_016871310 ⟸ XM_017015821 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_024303630 ⟸ XM_024447862 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | ENSP00000381302 ⟸ ENST00000398250 |
RefSeq Acc Id: | XP_047280665 ⟸ XM_047424709 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047280666 ⟸ XM_047424710 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054220958 ⟸ XM_054364983 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054220961 ⟸ XM_054364986 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054220960 ⟸ XM_054364985 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054220966 ⟸ XM_054364991 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054220959 ⟸ XM_054364984 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054220964 ⟸ XM_054364989 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054220963 ⟸ XM_054364988 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054220962 ⟸ XM_054364987 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054220965 ⟸ XM_054364990 |
- Peptide Label: | isoform X5 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q5VZY2-F1-model_v2 | AlphaFold | Q5VZY2 | 1-271 | view protein structure |
RGD ID: | 7218831 | ||||||||
Promoter ID: | EPDNEW_H15161 | ||||||||
Type: | single initiation site | ||||||||
Name: | PLPP4_4 | ||||||||
Description: | phospholipid phosphatase 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H15160 EPDNEW_H15162 EPDNEW_H15163 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7218833 | ||||||||
Promoter ID: | EPDNEW_H15162 | ||||||||
Type: | initiation region | ||||||||
Name: | PLPP4_2 | ||||||||
Description: | phospholipid phosphatase 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H15160 EPDNEW_H15161 EPDNEW_H15163 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7218835 | ||||||||
Promoter ID: | EPDNEW_H15163 | ||||||||
Type: | initiation region | ||||||||
Name: | PLPP4_1 | ||||||||
Description: | phospholipid phosphatase 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H15160 EPDNEW_H15161 EPDNEW_H15162 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:23531 | AgrOrtholog |
COSMIC | PLPP4 | COSMIC |
Ensembl Genes | ENSG00000203805 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000398250 | ENTREZGENE |
ENST00000398250.6 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Phosphatidic acid phosphatase type 2/haloperoxidase | UniProtKB/Swiss-Prot |
GTEx | ENSG00000203805 | GTEx |
HGNC ID | HGNC:23531 | ENTREZGENE |
Human Proteome Map | PLPP4 | Human Proteome Map |
InterPro | P_Acid_Pase_2/haloperoxi_sf | UniProtKB/Swiss-Prot |
P_Acid_Pase_2/haloperoxidase | UniProtKB/Swiss-Prot | |
PLPP | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:196051 | UniProtKB/Swiss-Prot |
NCBI Gene | 196051 | ENTREZGENE |
PANTHER | PTHR10165 | UniProtKB/Swiss-Prot |
PTHR10165:SF90 | UniProtKB/Swiss-Prot | |
Pfam | PAP2 | UniProtKB/Swiss-Prot |
PharmGKB | PA134907381 | PharmGKB |
SMART | acidPPc | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF48317 | UniProtKB/Swiss-Prot |
UniProt | A2RU82 | ENTREZGENE |
PLPP4_HUMAN | UniProtKB/Swiss-Prot | |
Q08EQ2 | ENTREZGENE | |
Q0IIP2 | ENTREZGENE | |
Q495B4 | ENTREZGENE | |
Q5VZY1 | ENTREZGENE | |
Q5VZY2 | ENTREZGENE | |
UniProt Secondary | A2RU82 | UniProtKB/Swiss-Prot |
Q08EQ2 | UniProtKB/Swiss-Prot | |
Q0IIP2 | UniProtKB/Swiss-Prot | |
Q495B4 | UniProtKB/Swiss-Prot | |
Q5VZY1 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-10-20 | PLPP4 | phospholipid phosphatase 4 | PPAPDC1A | phosphatidic acid phosphatase type 2 domain containing 1A | Symbol and/or name change | 5135510 | APPROVED |