Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Liver Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20195826 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Liver Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20195826 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8602222 | PMID:9139670 | PMID:9736629 | PMID:10833321 | PMID:11694882 | PMID:12429208 | PMID:12477932 | PMID:12953101 | PMID:14978112 | PMID:15174051 | PMID:15340161 | PMID:15342556 |
PMID:15355918 | PMID:15489334 | PMID:15670776 | PMID:15944307 | PMID:16142329 | PMID:16196087 | PMID:16354654 | PMID:16685272 | PMID:17207965 | PMID:17353931 | PMID:17373842 | PMID:17448443 |
PMID:17620599 | PMID:17626247 | PMID:18058718 | PMID:18372903 | PMID:18403914 | PMID:18594538 | PMID:18599487 | PMID:18714373 | PMID:18781797 | PMID:19020323 | PMID:19056867 | PMID:19380743 |
PMID:19394292 | PMID:19670153 | PMID:19703016 | PMID:19720844 | PMID:19833888 | PMID:20020773 | PMID:20510021 | PMID:20571754 | PMID:20809104 | PMID:20837461 | PMID:20889853 | PMID:21139048 |
PMID:21145461 | PMID:21319273 | PMID:21397687 | PMID:21565611 | PMID:21642987 | PMID:21873635 | PMID:21988832 | PMID:22262861 | PMID:22588119 | PMID:22658674 | PMID:23376485 | PMID:23398456 |
PMID:23426625 | PMID:23455922 | PMID:23686814 | PMID:23824909 | PMID:23979707 | PMID:24562771 | PMID:24969620 | PMID:24981860 | PMID:25055737 | PMID:25324306 | PMID:25331947 | PMID:25416956 |
PMID:25673161 | PMID:25879571 | PMID:25921289 | PMID:25963833 | PMID:26170170 | PMID:26693507 | PMID:26718508 | PMID:26725010 | PMID:26777405 | PMID:26944449 | PMID:26972000 | PMID:27217568 |
PMID:27392853 | PMID:27432908 | PMID:27462432 | PMID:27545878 | PMID:27591049 | PMID:27609421 | PMID:27650261 | PMID:28515276 | PMID:28685749 | PMID:28888369 | PMID:28977666 | PMID:29053956 |
PMID:29128334 | PMID:29178343 | PMID:29180619 | PMID:29298432 | PMID:29467282 | PMID:29478914 | PMID:29507755 | PMID:29549164 | PMID:29563501 | PMID:29676528 | PMID:29735542 | PMID:29777862 |
PMID:29844126 | PMID:29845934 | PMID:29859926 | PMID:29969578 | PMID:30226544 | PMID:30258100 | PMID:30309841 | PMID:30413534 | PMID:30463107 | PMID:30575818 | PMID:30734678 | PMID:30737378 |
PMID:30745168 | PMID:30836988 | PMID:30948266 | PMID:30997501 | PMID:31010829 | PMID:31091453 | PMID:31115649 | PMID:31180492 | PMID:31253590 | PMID:31267705 | PMID:31273033 | PMID:31300519 |
PMID:31324722 | PMID:31406141 | PMID:31436131 | PMID:31586073 | PMID:31669268 | PMID:31950832 | PMID:31952546 | PMID:32120844 | PMID:32129710 | PMID:32176739 | PMID:32296183 | PMID:32355176 |
PMID:32398829 | PMID:32552912 | PMID:32572027 | PMID:32614325 | PMID:32687490 | PMID:32807901 | PMID:32905556 | PMID:32908313 | PMID:32913203 | PMID:32929329 | PMID:32989256 | PMID:33005030 |
PMID:33194618 | PMID:33239621 | PMID:33644029 | PMID:33742100 | PMID:33838681 | PMID:33981001 | PMID:34185411 | PMID:34431227 | PMID:34445801 | PMID:34728620 | PMID:35013218 | PMID:35124280 |
PMID:35256949 | PMID:35271311 | PMID:35474131 | PMID:35546148 | PMID:35583604 | PMID:35652658 | PMID:35831895 | PMID:35864588 | PMID:35896951 | PMID:35944360 | PMID:36057605 | PMID:36114006 |
PMID:36147463 | PMID:36180891 | PMID:36199071 | PMID:36215168 | PMID:36243803 | PMID:36244648 | PMID:36307841 | PMID:36339263 | PMID:36373674 | PMID:36414381 | PMID:36424410 | PMID:36490346 |
PMID:36517590 | PMID:36526897 | PMID:36574265 | PMID:36604567 | PMID:36610398 | PMID:36636478 | PMID:37689310 | PMID:37827155 | PMID:38113892 | PMID:38172120 |
DCD (Homo sapiens - human) |
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A930009A15Rik (Mus musculus - house mouse) |
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Dcd (Chinchilla lanigera - long-tailed chinchilla) |
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DCD (Pan paniscus - bonobo/pygmy chimpanzee) |
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DCD (Chlorocebus sabaeus - green monkey) |
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Variants in DCD
7 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 | copy number gain | See cases [RCV000139555] | Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3 | copy number gain | See cases [RCV000141435] | Chr12:53420606..56202942 [GRCh38] Chr12:53814390..56596726 [GRCh37] Chr12:52100657..54882993 [NCBI36] Chr12:12q13.13-13.3 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 | copy number gain | See cases [RCV000258805] | Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 | copy number gain | See cases [RCV000510482] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) | copy number gain | See cases [RCV000511643] | Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 | copy number gain | not provided [RCV000750246] | Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 | copy number gain | not provided [RCV000750253] | Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_053283.4(DCD):c.211G>A (p.Asp71Asn) | single nucleotide variant | not provided [RCV000973150] | Chr12:54645251 [GRCh38] Chr12:55039035 [GRCh37] Chr12:12q13.2 |
benign |
NM_053283.4(DCD):c.72C>T (p.Ala24=) | single nucleotide variant | not provided [RCV000897772] | Chr12:54647146 [GRCh38] Chr12:55040930 [GRCh37] Chr12:12q13.2 |
likely benign |
NM_053283.4(DCD):c.280G>A (p.Val94Met) | single nucleotide variant | Inborn genetic diseases [RCV003241217] | Chr12:54645182 [GRCh38] Chr12:55038966 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_053283.4(DCD):c.326T>C (p.Val109Ala) | single nucleotide variant | Inborn genetic diseases [RCV002728268] | Chr12:54644720 [GRCh38] Chr12:55038504 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_053283.4(DCD):c.89C>T (p.Ser30Leu) | single nucleotide variant | Inborn genetic diseases [RCV002640912] | Chr12:54647129 [GRCh38] Chr12:55040913 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_053283.4(DCD):c.241G>A (p.Gly81Arg) | single nucleotide variant | Inborn genetic diseases [RCV002769433] | Chr12:54645221 [GRCh38] Chr12:55039005 [GRCh37] Chr12:12q13.2 |
uncertain significance |
NM_053283.4(DCD):c.295G>A (p.Val99Ile) | single nucleotide variant | Inborn genetic diseases [RCV002940581] | Chr12:54644751 [GRCh38] Chr12:55038535 [GRCh37] Chr12:12q13.2 |
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. |
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 | |
High | 1 | 743 | 19 | 467 | |||||||||||
Medium | 11 | 11 | 6 | 2 | 2 | 2 | 499 | 6 | 10 | 4 | 9 | 27 | 218 | ||
Low | 718 | 1126 | 385 | 89 | 296 | 46 | 1495 | 707 | 893 | 27 | 406 | 424 | 43 | 608 | 1069 |
Below cutoff | 1003 | 1389 | 627 | 180 | 653 | 112 | 1130 | 1095 | 1728 | 119 | 558 | 527 | 68 | 464 | 861 |
RefSeq Transcripts | NM_001300854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_053283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC079310 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF144011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF418981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY044239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY590150 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC062682 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC069108 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP313072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF503687 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF503688 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF503689 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000293371 ⟹ ENSP00000293371 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000456047 ⟹ ENSP00000406773 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000546807 ⟹ ENSP00000450415 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001300854 ⟹ NP_001287783 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_053283 ⟹ NP_444513 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001287783 | (Get FASTA) | NCBI Sequence Viewer |
NP_444513 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH62682 | (Get FASTA) | NCBI Sequence Viewer |
AAH69108 | (Get FASTA) | NCBI Sequence Viewer | |
AAK94785 | (Get FASTA) | NCBI Sequence Viewer | |
AAL18349 | (Get FASTA) | NCBI Sequence Viewer | |
AAL25801 | (Get FASTA) | NCBI Sequence Viewer | |
AAS99907 | (Get FASTA) | NCBI Sequence Viewer | |
ABQ53649 | (Get FASTA) | NCBI Sequence Viewer | |
ABQ53650 | (Get FASTA) | NCBI Sequence Viewer | |
ABQ53651 | (Get FASTA) | NCBI Sequence Viewer | |
EAW96794 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000293371 | ||
ENSP00000293371.6 | |||
ENSP00000406773 | |||
ENSP00000406773.2 | |||
ENSP00000450415.1 | |||
GenBank Protein | P81605 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_444513 ⟸ NM_053283 |
- Peptide Label: | isoform 1 preproprotein |
- UniProtKB: | P58461 (UniProtKB/Swiss-Prot), A5JHP3 (UniProtKB/Swiss-Prot), A5JHP2 (UniProtKB/Swiss-Prot), Q53YJ2 (UniProtKB/Swiss-Prot), P81605 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001287783 ⟸ NM_001300854 |
- Peptide Label: | isoform 2 preproprotein |
- UniProtKB: | P81605 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000293371 ⟸ ENST00000293371 |
RefSeq Acc Id: | ENSP00000450415 ⟸ ENST00000546807 |
RefSeq Acc Id: | ENSP00000406773 ⟸ ENST00000456047 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P81605-F1-model_v2 | AlphaFold | P81605 | 1-110 | view protein structure |
RGD ID: | 7224277 | ||||||||
Promoter ID: | EPDNEW_H17884 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | DCD_1 | ||||||||
Description: | dermcidin | ||||||||
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) |
COSMIC | DCD | COSMIC |
Ensembl Genes | ENSG00000161634 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000293371 | ENTREZGENE |
ENST00000293371.11 | UniProtKB/Swiss-Prot | |
ENST00000456047 | ENTREZGENE | |
ENST00000456047.2 | UniProtKB/Swiss-Prot | |
ENST00000546807.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 6.10.140.580 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000161634 | GTEx |
HGNC ID | HGNC:14669 | ENTREZGENE |
Human Proteome Map | DCD | Human Proteome Map |
InterPro | Dermcidin | UniProtKB/Swiss-Prot |
Dermcidin/Lacritin | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:117159 | UniProtKB/Swiss-Prot |
NCBI Gene | 117159 | ENTREZGENE |
OMIM | 606634 | OMIM |
PANTHER | PTHR40711 | UniProtKB/Swiss-Prot |
PTHR40711:SF1 | UniProtKB/Swiss-Prot | |
Pfam | Dermcidin | UniProtKB/Swiss-Prot |
PharmGKB | PA27171 | PharmGKB |
UniProt | A5JHP2 | ENTREZGENE |
A5JHP3 | ENTREZGENE | |
DCD_HUMAN | UniProtKB/Swiss-Prot | |
P58461 | ENTREZGENE | |
P81605 | ENTREZGENE | |
Q53YJ2 | ENTREZGENE | |
UniProt Secondary | A5JHP2 | UniProtKB/Swiss-Prot |
A5JHP3 | UniProtKB/Swiss-Prot | |
P58461 | UniProtKB/Swiss-Prot | |
Q53YJ2 | UniProtKB/Swiss-Prot |