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. | 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 |
3. | Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. | Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363. |
PMID:3202964 | PMID:8179826 | PMID:9007972 | PMID:9632704 | PMID:9733783 | PMID:9892200 | PMID:10945474 | PMID:11079561 | PMID:11780052 | PMID:12423348 | PMID:12477932 | PMID:15212960 |
PMID:15489334 | PMID:15752368 | PMID:16601115 | PMID:17207965 | PMID:18256700 | PMID:19192250 | PMID:21344476 | PMID:21873635 | PMID:22365146 | PMID:28514442 | PMID:30021884 | PMID:30033148 |
PMID:31059105 | PMID:32947653 | PMID:33868254 | PMID:33961781 | PMID:34189679 |
CST7 (Homo sapiens - human) |
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Cst7 (Mus musculus - house mouse) |
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Cst7 (Rattus norvegicus - Norway rat) |
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Cst7 (Chinchilla lanigera - long-tailed chinchilla) |
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CST7 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CST7 (Canis lupus familiaris - dog) |
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Cst7 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CST7 (Sus scrofa - pig) |
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Cst7 (Heterocephalus glaber - naked mole-rat) |
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Variants in CST7
7 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 | copy number gain | See cases [RCV000051227] | Chr20:89939..25697564 [GRCh38] Chr20:70580..25678200 [GRCh37] Chr20:18580..25626200 [NCBI36] Chr20:20p13-11.21 |
pathogenic |
GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3 | copy number gain | See cases [RCV000053000] | Chr20:22061586..30285812 [GRCh38] Chr20:22042224..29520488 [GRCh37] Chr20:21990224..28134149 [NCBI36] Chr20:20p11.22-q11.1 |
pathogenic |
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 | copy number gain | See cases [RCV000052999] | Chr20:9811433..39316956 [GRCh38] Chr20:9792081..37945599 [GRCh37] Chr20:9740081..37379013 [NCBI36] Chr20:20p12.2-q12 |
pathogenic |
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 | copy number gain | See cases [RCV000133996] | Chr20:80106..30227427 [GRCh38] Chr20:60747..29462103 [GRCh37] Chr20:8747..28075764 [NCBI36] Chr20:20p13-q11.1 |
pathogenic |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 | copy number gain | See cases [RCV000142017] | Chr20:80927..26324843 [GRCh38] Chr20:61568..26305479 [GRCh37] Chr20:9568..26253479 [NCBI36] Chr20:20p13-11.1 |
pathogenic |
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 | copy number gain | See cases [RCV000239954] | Chr20:80198..26075841 [GRCh37] Chr20:20p13-11.1 |
pathogenic |
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3 | copy number gain | See cases [RCV000240436] | Chr20:17705775..31600738 [GRCh37] Chr20:20p12.1-q11.21 |
pathogenic |
GRCh37/hg19 20p11.21(chr20:24930152-25195470)x3 | copy number gain | See cases [RCV000445675] | Chr20:24930152..25195470 [GRCh37] Chr20:20p11.21 |
uncertain significance |
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3 | copy number gain | See cases [RCV000448977] | Chr20:24162775..31820857 [GRCh37] Chr20:20p11.21-q11.21 |
likely pathogenic |
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 | copy number gain | not provided [RCV000487461] | Chr20:80198..26208081 [GRCh37] Chr20:20p13-q11.21 |
pathogenic |
GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1 | copy number loss | See cases [RCV000510621] | Chr20:18500917..25847320 [GRCh37] Chr20:20p11.23-11.1 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3 | copy number gain | See cases [RCV000512500] | Chr20:24876569..30494851 [GRCh37] Chr20:20p11.21-q11.21 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
Single allele | duplication | not provided [RCV000677978] | Chr20:17705775..31600738 [GRCh37] Chr20:20p12.1-q11.21 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p11.21(chr20:24232978-25520939)x3 | copy number gain | not provided [RCV000847453] | Chr20:24232978..25520939 [GRCh37] Chr20:20p11.21 |
uncertain significance |
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 | copy number gain | not provided [RCV001007068] | Chr20:61568..26305479 [GRCh37] Chr20:20p13-11.1 |
pathogenic |
GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3 | copy number gain | not provided [RCV001258738] | Chr20:19750804..30479077 [GRCh37] Chr20:20p11.23-q11.21 |
likely pathogenic |
GRCh37/hg19 20p11.21(chr20:24685850-24948039)x3 | copy number gain | not provided [RCV001258736] | Chr20:24685850..24948039 [GRCh37] Chr20:20p11.21 |
uncertain significance |
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 | copy number gain | not provided [RCV001829151] | Chr20:18665879..33903216 [GRCh37] Chr20:20p11.23-q11.22 |
likely pathogenic |
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857) | copy number gain | not specified [RCV002052707] | Chr20:24162775..31820857 [GRCh37] Chr20:20p11.21-q11.21 |
likely pathogenic |
NM_003650.4(CST7):c.296G>C (p.Cys99Ser) | single nucleotide variant | Inborn genetic diseases [RCV002884022] | Chr20:24958980 [GRCh38] Chr20:24939616 [GRCh37] Chr20:20p11.21 |
uncertain significance |
NM_003650.4(CST7):c.208T>G (p.Phe70Val) | single nucleotide variant | Inborn genetic diseases [RCV003212184] | Chr20:24957424 [GRCh38] Chr20:24938060 [GRCh37] Chr20:20p11.21 |
uncertain significance |
NM_003650.4(CST7):c.412G>A (p.Glu138Lys) | single nucleotide variant | Inborn genetic diseases [RCV003202046] | Chr20:24959686 [GRCh38] Chr20:24940322 [GRCh37] Chr20:20p11.21 |
uncertain significance |
NM_003650.4(CST7):c.187T>C (p.Cys63Arg) | single nucleotide variant | Inborn genetic diseases [RCV003383319] | Chr20:24957403 [GRCh38] Chr20:24938039 [GRCh37] Chr20:20p11.21 |
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. |
RH46008 |
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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 | 496 | 503 | 1 | 1 | ||||||||||||||
Medium | 401 | 624 | 385 | 138 | 847 | 132 | 596 | 96 | 124 | 128 | 261 | 908 | 9 | 676 | 230 | |||
Low | 1973 | 1800 | 1319 | 480 | 432 | 327 | 3380 | 1903 | 3069 | 253 | 1098 | 584 | 161 | 1 | 528 | 2382 | 4 | 2 |
Below cutoff | 38 | 69 | 14 | 3 | 84 | 3 | 315 | 176 | 500 | 19 | 66 | 55 | 4 | 172 | 1 |
RefSeq Acc Id: | ENST00000480798 ⟹ ENSP00000420384 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_003650 ⟹ NP_003641 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NP_003641 ⟸ NM_003650 |
- Peptide Label: | precursor |
- UniProtKB: | Q7Z4J8 (UniProtKB/Swiss-Prot), Q6FH95 (UniProtKB/Swiss-Prot), Q9UED4 (UniProtKB/Swiss-Prot), O76096 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000420384 ⟸ ENST00000480798 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-O76096-F1-model_v2 | AlphaFold | O76096 | 1-145 | view protein structure |
RGD ID: | 6798615 | ||||||||
Promoter ID: | HG_KWN:38883 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, NB4 | ||||||||
Transcripts: | OTTHUMT00000078381 | ||||||||
Position: |
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RGD ID: | 13206557 | ||||||||
Promoter ID: | EPDNEW_H26860 | ||||||||
Type: | initiation region | ||||||||
Name: | CST7_1 | ||||||||
Description: | cystatin F | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:2479 | AgrOrtholog |
COSMIC | CST7 | COSMIC |
Ensembl Genes | ENSG00000077984 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000480798 | ENTREZGENE |
ENST00000480798.2 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.10.450.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000077984 | GTEx |
HGNC ID | HGNC:2479 | ENTREZGENE |
Human Proteome Map | CST7 | Human Proteome Map |
InterPro | Cystatin-F | UniProtKB/Swiss-Prot |
Cystatin_dom | UniProtKB/Swiss-Prot | |
Cystatin_sf | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:8530 | UniProtKB/Swiss-Prot |
NCBI Gene | 8530 | ENTREZGENE |
OMIM | 603253 | OMIM |
PANTHER | CYSTATIN-F | UniProtKB/Swiss-Prot |
PTHR47141 | UniProtKB/Swiss-Prot | |
Pfam | Cystatin | UniProtKB/Swiss-Prot |
PharmGKB | CST7 | RGD, PharmGKB |
SMART | SM00043 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF54403 | UniProtKB/Swiss-Prot |
UniProt | CYTF_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE |
Q6FH95 | ENTREZGENE | |
Q7Z4J8 | ENTREZGENE | |
Q9UED4 | ENTREZGENE | |
UniProt Secondary | Q6FH95 | UniProtKB/Swiss-Prot |
Q7Z4J8 | UniProtKB/Swiss-Prot | |
Q9UED4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-12-22 | CST7 | cystatin F | CST7 | cystatin F (leukocystatin) | Symbol and/or name change | 5135510 | APPROVED |