Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Coronavirus infectious disease | | ISS | Ppp1r14c (Mus musculus) | 13592920 | | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Coronavirus infectious disease | | ISS | Ppp1r14c (Mus musculus) | 13592920 | | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:11564868 | PMID:11812771 | PMID:11948623 | PMID:12477932 | PMID:12747765 | PMID:14574404 | PMID:14702039 | PMID:15489334 | PMID:16449650 | PMID:19132087 | PMID:19475667 | PMID:20592344 |
PMID:21873635 | PMID:21946350 | PMID:22939629 | PMID:23284291 | PMID:26760575 | PMID:28514442 | PMID:29987050 | PMID:30021884 | PMID:33961781 | PMID:34187934 | PMID:35031423 |
PPP1R14C (Homo sapiens - human) |
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Ppp1r14c (Mus musculus - house mouse) |
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Ppp1r14c (Rattus norvegicus - Norway rat) |
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Ppp1r14c (Chinchilla lanigera - long-tailed chinchilla) |
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PPP1R14C (Pan paniscus - bonobo/pygmy chimpanzee) |
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PPP1R14C (Canis lupus familiaris - dog) |
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Ppp1r14c (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PPP1R14C (Sus scrofa - pig) |
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PPP1R14C (Chlorocebus sabaeus - green monkey) |
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Ppp1r14c (Heterocephalus glaber - naked mole-rat) |
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Variants in PPP1R14C
11 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 | copy number gain | See cases [RCV000050604] | Chr6:141132990..169339571 [GRCh38] Chr6:141454127..169739666 [GRCh37] Chr6:141495820..169481591 [NCBI36] Chr6:6q24.1-27 |
pathogenic |
GRCh38/hg38 6q24.3-25.1(chr6:146481119-151427629)x1 | copy number loss | See cases [RCV000051005] | Chr6:146481119..151427629 [GRCh38] Chr6:146802255..151748764 [GRCh37] Chr6:146843948..151790457 [NCBI36] Chr6:6q24.3-25.1 |
pathogenic |
GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1 | copy number loss | See cases [RCV000052206] | Chr6:144932561..152985364 [GRCh38] Chr6:145253697..153306499 [GRCh37] Chr6:145295390..153348192 [NCBI36] Chr6:6q24.2-25.2 |
pathogenic |
GRCh38/hg38 6q24.3-25.1(chr6:147805119-150893715)x1 | copy number loss | See cases [RCV000135408] | Chr6:147805119..150893715 [GRCh38] Chr6:148126255..151214851 [GRCh37] Chr6:148167948..151256544 [NCBI36] Chr6:6q24.3-25.1 |
pathogenic |
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 | copy number gain | See cases [RCV000136826] | Chr6:135358150..155455117 [GRCh38] Chr6:135679288..155776251 [GRCh37] Chr6:135720981..155817943 [NCBI36] Chr6:6q23.3-25.3 |
pathogenic |
GRCh38/hg38 6q24.3-25.1(chr6:147580351-150227963)x3 | copy number gain | See cases [RCV000138362] | Chr6:147580351..150227963 [GRCh38] Chr6:147901487..150549099 [GRCh37] Chr6:147943180..150590792 [NCBI36] Chr6:6q24.3-25.1 |
uncertain significance |
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 | copy number gain | See cases [RCV000143444] | Chr6:133537271..165875545 [GRCh38] Chr6:133858409..166289033 [GRCh37] Chr6:133900102..166209023 [NCBI36] Chr6:6q23.2-27 |
pathogenic |
GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1 | copy number loss | See cases [RCV000448815] | Chr6:144075695..152337005 [GRCh37] Chr6:6q24.2-25.1 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 | copy number gain | not provided [RCV000746100] | Chr6:150284435..170919470 [GRCh37] Chr6:6q25.1-27 |
pathogenic |
GRCh37/hg19 6q24.3-25.1(chr6:148690764-150494873)x1 | copy number loss | See cases [RCV000790589] | Chr6:148690764..150494873 [GRCh37] Chr6:6q24.3-25.1 |
pathogenic |
GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1 | copy number loss | not provided [RCV001005856] | Chr6:149431322..154120064 [GRCh37] Chr6:6q25.1-25.2 |
pathogenic |
GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3 | copy number gain | not provided [RCV000846496] | Chr6:148195086..160127254 [GRCh37] Chr6:6q24.3-25.3 |
pathogenic |
NM_030949.3(PPP1R14C):c.143C>A (p.Ala48Glu) | single nucleotide variant | Inborn genetic diseases [RCV002836728] | Chr6:150143335 [GRCh38] Chr6:150464471 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_030949.3(PPP1R14C):c.112A>G (p.Ser38Gly) | single nucleotide variant | Inborn genetic diseases [RCV002992617] | Chr6:150143304 [GRCh38] Chr6:150464440 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_030949.3(PPP1R14C):c.80G>A (p.Arg27Gln) | single nucleotide variant | Inborn genetic diseases [RCV002869814] | Chr6:150143272 [GRCh38] Chr6:150464408 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_030949.3(PPP1R14C):c.160G>A (p.Ala54Thr) | single nucleotide variant | Inborn genetic diseases [RCV003004404] | Chr6:150143352 [GRCh38] Chr6:150464488 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_030949.3(PPP1R14C):c.148G>T (p.Val50Leu) | single nucleotide variant | Inborn genetic diseases [RCV002714083] | Chr6:150143340 [GRCh38] Chr6:150464476 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_030949.3(PPP1R14C):c.304G>A (p.Glu102Lys) | single nucleotide variant | Inborn genetic diseases [RCV003344352] | Chr6:150143496 [GRCh38] Chr6:150464632 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_030949.3(PPP1R14C):c.282G>C (p.Gln94His) | single nucleotide variant | Inborn genetic diseases [RCV003369501] | Chr6:150143474 [GRCh38] Chr6:150464610 [GRCh37] Chr6:6q25.1 |
uncertain significance |
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 | copy number gain | not specified [RCV003986631] | Chr6:119840686..156623091 [GRCh37] Chr6:6q22.31-25.3 |
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. |
WIAF-1701 |
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RH37413 |
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RH18265 |
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RH47324 |
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RH37415 |
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D6S1178E |
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RH18363 |
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WI-22584 |
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PPP1R14C_2476 |
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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 | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 349 | 839 | 718 | 38 | 36 | 18 | 2125 | 1150 | 826 | 190 | 638 | 1186 | 35 | 3 | 1475 | 2 | ||
Low | 661 | 1172 | 323 | 118 | 311 | 27 | 1261 | 253 | 2422 | 175 | 479 | 363 | 91 | 1 | 354 | 831 | 2 | 1 |
Below cutoff | 1362 | 890 | 477 | 286 | 1125 | 239 | 943 | 745 | 447 | 49 | 315 | 34 | 47 | 821 | 476 | 1 |
RefSeq Transcripts | NM_030949 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_005267152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF308297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF407165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF407166 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK092697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK096272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL096708 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL138890 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL355497 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC015773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB994599 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DR003369 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000361131 ⟹ ENSP00000355260 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_030949 ⟹ NP_112211 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_112211 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAG48264 | (Get FASTA) | NCBI Sequence Viewer |
AAH15773 | (Get FASTA) | NCBI Sequence Viewer | |
AAL83506 | (Get FASTA) | NCBI Sequence Viewer | |
AAL83507 | (Get FASTA) | NCBI Sequence Viewer | |
EAW47770 | (Get FASTA) | NCBI Sequence Viewer | |
EAW47771 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000355260 | ||
ENSP00000355260.4 | |||
GenBank Protein | Q8TAE6 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_112211 ⟸ NM_030949 |
- UniProtKB: | Q96BB1 (UniProtKB/Swiss-Prot), Q5VY83 (UniProtKB/Swiss-Prot), Q9H277 (UniProtKB/Swiss-Prot), Q8TAE6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000355260 ⟸ ENST00000361131 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8TAE6-F1-model_v2 | AlphaFold | Q8TAE6 | 1-165 | view protein structure |
RGD ID: | 7209433 | ||||||||
Promoter ID: | EPDNEW_H10462 | ||||||||
Type: | initiation region | ||||||||
Name: | PPP1R14C_1 | ||||||||
Description: | protein phosphatase 1 regulatory inhibitor subunit 14C | ||||||||
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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RGD ID: | 6804557 | ||||||||
Promoter ID: | HG_KWN:55419 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | ENST00000361131 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:14952 | AgrOrtholog |
COSMIC | PPP1R14C | COSMIC |
Ensembl Genes | ENSG00000198729 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000361131 | ENTREZGENE |
ENST00000361131.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.150.220 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000198729 | GTEx |
HGNC ID | HGNC:14952 | ENTREZGENE |
Human Proteome Map | PPP1R14C | Human Proteome Map |
InterPro | CPI-17 | UniProtKB/Swiss-Prot |
CPI-17_sf | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:81706 | UniProtKB/Swiss-Prot |
NCBI Gene | 81706 | ENTREZGENE |
OMIM | 613242 | OMIM |
PANTHER | PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT 14C | UniProtKB/Swiss-Prot |
PTHR16188 | UniProtKB/Swiss-Prot | |
Pfam | PP1_inhibitor | UniProtKB/Swiss-Prot |
PharmGKB | PA33630 | PharmGKB |
Superfamily-SCOP | SSF81790 | UniProtKB/Swiss-Prot |
UniProt | L8EAF9_HUMAN | UniProtKB/TrEMBL |
PP14C_HUMAN | UniProtKB/Swiss-Prot | |
Q5VY83 | ENTREZGENE | |
Q8TAE6 | ENTREZGENE | |
Q96BB1 | ENTREZGENE | |
Q9H277 | ENTREZGENE | |
UniProt Secondary | Q5VY83 | UniProtKB/Swiss-Prot |
Q96BB1 | UniProtKB/Swiss-Prot | |
Q9H277 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-11-24 | PPP1R14C | protein phosphatase 1 regulatory inhibitor subunit 14C | protein phosphatase 1, regulatory (inhibitor) subunit 14C | Symbol and/or name change | 5135510 | APPROVED |