Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19367726 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19367726 | |
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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:838735 | PMID:1313424 | PMID:1718282 | PMID:1741693 | PMID:1747107 | PMID:2373369 | PMID:2483725 | PMID:3426601 | PMID:3476566 | PMID:3502720 | PMID:7876428 | PMID:9048421 |
PMID:9109822 | PMID:10728974 | PMID:10748043 | PMID:10831095 | PMID:12060866 | PMID:12444093 | PMID:12477932 | PMID:15489334 | PMID:15769251 | PMID:16203048 | PMID:19678690 | PMID:19799638 |
PMID:20237496 | PMID:20731414 | PMID:22505607 | PMID:22563672 | PMID:23333304 | PMID:24981860 | PMID:25128293 | PMID:25192599 | PMID:26544073 | PMID:28330616 | PMID:28837608 | PMID:31606405 |
PMID:32296183 | PMID:32707033 | PMID:33961781 | PMID:35384245 | PMID:36395562 | PMID:36949045 |
STATH (Homo sapiens - human) |
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Stath (Rattus norvegicus - Norway rat) |
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STATH (Pan paniscus - bonobo/pygmy chimpanzee) |
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Stath (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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STATH (Sus scrofa - pig) |
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Variants in STATH
5 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1 | copy number loss | See cases [RCV000050704] | Chr4:66842408..70831557 [GRCh38] Chr4:67708126..71697274 [GRCh37] Chr4:67390721..71916138 [NCBI36] Chr4:4q13.2-13.3 |
pathogenic |
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 | copy number gain | See cases [RCV000051772] | Chr4:51831622..97505618 [GRCh38] Chr4:52697788..98426769 [GRCh37] Chr4:52392545..98645792 [NCBI36] Chr4:4q12-22.3 |
pathogenic |
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] | Chr4:67869564..85517308 [GRCh38] Chr4:68735282..86438461 [GRCh37] Chr4:68417877..86657485 [NCBI36] Chr4:4q13.2-21.23 |
pathogenic |
GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1 | copy number loss | See cases [RCV000053293] | Chr4:65454562..72313693 [GRCh38] Chr4:66320280..73179410 [GRCh37] Chr4:66002875..73398274 [NCBI36] Chr4:4q13.1-13.3 |
pathogenic |
GRCh38/hg38 4q13.3(chr4:69758599-70193037)x1 | copy number loss | See cases [RCV000054041] | Chr4:69758599..70193037 [GRCh38] Chr4:70624317..71058754 [GRCh37] Chr4:70658906..71093343 [NCBI36] Chr4:4q13.3 |
uncertain significance |
NM_001009181.1(STATH):c.9C>T (p.Phe3=) | single nucleotide variant | Malignant melanoma [RCV000061034] | Chr4:69998446 [GRCh38] Chr4:70864163 [GRCh37] Chr4:70898752 [NCBI36] Chr4:4q13.3 |
not provided |
GRCh38/hg38 4q13.2-13.3(chr4:68902161-70620273)x3 | copy number gain | See cases [RCV000136751] | Chr4:68902161..70620273 [GRCh38] Chr4:69767879..71485990 [GRCh37] Chr4:69802468..71520579 [NCBI36] Chr4:4q13.2-13.3 |
pathogenic |
GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1 | copy number loss | See cases [RCV000137622] | Chr4:67799665..74240920 [GRCh38] Chr4:68665383..75106637 [GRCh37] Chr4:68347978..75325501 [NCBI36] Chr4:4q13.2-13.3 |
likely pathogenic |
GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1 | copy number loss | See cases [RCV000142366] | Chr4:67744481..70267689 [GRCh38] Chr4:68610199..71133406 [GRCh37] Chr4:68292794..71167995 [NCBI36] Chr4:4q13.2-13.3 |
uncertain significance |
GRCh38/hg38 4q13.3(chr4:69860680-70385052)x3 | copy number gain | See cases [RCV000143520] | Chr4:69860680..70385052 [GRCh38] Chr4:70726398..71250769 [GRCh37] Chr4:70760987..71285358 [NCBI36] Chr4:4q13.3 |
likely benign|uncertain significance |
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 | copy number gain | See cases [RCV000143458] | Chr4:68686088..95294456 [GRCh38] Chr4:69551806..96215607 [GRCh37] Chr4:69234401..96434630 [NCBI36] Chr4:4q13.2-22.3 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1 | copy number loss | See cases [RCV000510445] | Chr4:66017575..76772947 [GRCh37] Chr4:4q13.1-21.1 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3 | copy number gain | not provided [RCV000682409] | Chr4:64705501..73469716 [GRCh37] Chr4:4q13.1-13.3 |
pathogenic |
GRCh37/hg19 4q13.2-13.3(chr4:70012338-71167321)x3 | copy number gain | not provided [RCV000682416] | Chr4:70012338..71167321 [GRCh37] Chr4:4q13.2-13.3 |
uncertain significance |
GRCh37/hg19 4q13.3(chr4:70594519-70885440)x3 | copy number gain | not provided [RCV000682417] | Chr4:70594519..70885440 [GRCh37] Chr4:4q13.3 |
uncertain significance |
GRCh37/hg19 4q13.3(chr4:70725002-71237421)x3 | copy number gain | not provided [RCV000682418] | Chr4:70725002..71237421 [GRCh37] Chr4:4q13.3 |
likely benign |
GRCh37/hg19 4q12-13.3(chr4:58332294-71587615)x1 | copy number loss | not provided [RCV000743602] | Chr4:58332294..71587615 [GRCh37] Chr4:4q12-13.3 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q13.3(chr4:70618421-71083238)x1 | copy number loss | not provided [RCV001005554] | Chr4:70618421..71083238 [GRCh37] Chr4:4q13.3 |
uncertain significance |
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 | copy number gain | not provided [RCV000845944] | Chr4:68242784..82991431 [GRCh37] Chr4:4q13.2-21.22 |
pathogenic |
NM_003154.3(STATH):c.102+7G>A | single nucleotide variant | not provided [RCV000887392] | Chr4:69999816 [GRCh38] Chr4:70865533 [GRCh37] Chr4:4q13.3 |
benign |
NM_003154.3(STATH):c.11T>C (p.Leu4Pro) | single nucleotide variant | not provided [RCV000906714] | Chr4:69998448 [GRCh38] Chr4:70864165 [GRCh37] Chr4:4q13.3 |
likely benign |
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1 | copy number loss | not provided [RCV001005553] | Chr4:68950363..79738598 [GRCh37] Chr4:4q13.2-21.21 |
pathogenic |
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 | copy number loss | Piebaldism [RCV001420508] | Chr4:51891814..76009719 [GRCh38] Chr4:4q12-21.1 |
pathogenic |
GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517) | copy number loss | not specified [RCV002053422] | Chr4:61867555..74711517 [GRCh37] Chr4:4q13.1-13.3 |
pathogenic |
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 | copy number gain | not provided [RCV001827738] | Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21 |
pathogenic |
NC_000004.12:g.67833055_82716065del | deletion | See cases [RCV003313802] | Chr4:67833055..82716065 [GRCh38] Chr4:4q13.2-21.22 |
pathogenic |
GRCh37/hg19 4q13.2-13.3(chr4:70478978-70985189)x1 | copy number loss | not provided [RCV002473768] | Chr4:70478978..70985189 [GRCh37] Chr4:4q13.2-13.3 |
uncertain significance |
GRCh37/hg19 4q13.2-13.3(chr4:70479061-70985189)x1 | copy number loss | not provided [RCV002475802] | Chr4:70479061..70985189 [GRCh37] Chr4:4q13.2-13.3 |
uncertain significance |
NM_003154.3(STATH):c.149C>A (p.Pro50Gln) | single nucleotide variant | Inborn genetic diseases [RCV002778157] | Chr4:70000909 [GRCh38] Chr4:70866626 [GRCh37] Chr4:4q13.3 |
uncertain significance |
NM_003154.3(STATH):c.128T>C (p.Val43Ala) | single nucleotide variant | Inborn genetic diseases [RCV003199573] | Chr4:70000888 [GRCh38] Chr4:70866605 [GRCh37] Chr4:4q13.3 |
uncertain significance |
GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1 | copy number loss | not provided [RCV003485417] | Chr4:57584845..72430996 [GRCh37] Chr4:4q12-13.3 |
pathogenic |
GRCh37/hg19 4q13.1-13.3(chr4:63684557-71480358)x3 | copy number gain | not provided [RCV003484182] | Chr4:63684557..71480358 [GRCh37] Chr4:4q13.1-13.3 |
pathogenic |
GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1 | copy number loss | not provided [RCV003485422] | Chr4:69146217..75500577 [GRCh37] Chr4:4q13.2-13.3 |
pathogenic |
GRCh37/hg19 4q13.3(chr4:70563498-71253752)x1 | copy number loss | not specified [RCV003986514] | Chr4:70563498..71253752 [GRCh37] Chr4:4q13.3 |
uncertain significance |
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 | copy number gain | not provided [RCV003885507] | Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2 |
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. |
SHGC4-1838 |
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SHGC-59549 |
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SGC35622 |
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D4S2814 |
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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 | pharyngeal arch | |
High | 1 | 55 | 1 | 1 | 54 | ||||||||||||
Medium | 3 | 1 | 4 | 104 | 1 | 5 | 5 | 3 | 10 | 4 | 102 | 3 | 1 | 2 | |||
Low | 38 | 41 | 84 | 9 | 24 | 5 | 121 | 71 | 94 | 4 | 101 | 68 | 6 | 39 | 77 | ||
Below cutoff | 338 | 341 | 356 | 64 | 244 | 63 | 841 | 371 | 509 | 26 | 379 | 355 | 1 | 290 | 490 | 1 |
RefSeq Acc Id: | ENST00000246895 ⟹ ENSP00000246895 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000381060 ⟹ ENSP00000370448 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000506576 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000507211 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000507962 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000510010 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000511658 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000615994 ⟹ ENSP00000484341 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001009181 ⟹ NP_001009181 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_003154 ⟹ NP_003145 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NP_003145 ⟸ NM_003154 |
- Peptide Label: | isoform a precursor |
- UniProtKB: | A6NKE9 (UniProtKB/Swiss-Prot), B2R4F8 (UniProtKB/Swiss-Prot), P02808 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001009181 ⟸ NM_001009181 |
- Peptide Label: | isoform b precursor |
- UniProtKB: | P02808 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000246895 ⟸ ENST00000246895 |
RefSeq Acc Id: | ENSP00000484341 ⟸ ENST00000615994 |
RefSeq Acc Id: | ENSP00000370448 ⟸ ENST00000381060 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P02808-F1-model_v2 | AlphaFold | P02808 | 1-62 | view protein structure |
RGD ID: | 6867618 | ||||||||
Promoter ID: | EPDNEW_H6974 | ||||||||
Type: | initiation region | ||||||||
Name: | STATH_1 | ||||||||
Description: | statherin | ||||||||
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: | 6851744 | ||||||||
Promoter ID: | EP73677 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | HS_STATH | ||||||||
Description: | Statherin. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | NEDO full length human cDNA sequencing project.; Oligo-capping | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:11369 | AgrOrtholog |
COSMIC | STATH | COSMIC |
Ensembl Genes | ENSG00000126549 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
ENSG00000282891 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000246895 | ENTREZGENE |
ENST00000246895.9 | UniProtKB/Swiss-Prot | |
ENST00000381060 | ENTREZGENE | |
ENST00000381060.2 | UniProtKB/Swiss-Prot | |
ENST00000634727.1 | UniProtKB/Swiss-Prot | |
ENST00000635686.2 | UniProtKB/Swiss-Prot | |
ENST00000676772.1 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000126549 | GTEx |
ENSG00000282891 | GTEx | |
HGNC ID | HGNC:11369 | ENTREZGENE |
Human Proteome Map | STATH | Human Proteome Map |
InterPro | Histatin/statherin | UniProtKB/Swiss-Prot |
Statherin | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:6779 | UniProtKB/Swiss-Prot |
NCBI Gene | 6779 | ENTREZGENE |
OMIM | 184470 | OMIM |
PANTHER | PTHR15057 | UniProtKB/Swiss-Prot |
STATHERIN | UniProtKB/Swiss-Prot | |
Pfam | Statherin | UniProtKB/Swiss-Prot |
PharmGKB | PA36187 | PharmGKB |
PIRSF | Statherin | UniProtKB/Swiss-Prot |
UniProt | A6NKE9 | ENTREZGENE |
B2R4F8 | ENTREZGENE | |
P02808 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | A6NKE9 | UniProtKB/Swiss-Prot |
B2R4F8 | UniProtKB/Swiss-Prot |