Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hepatocellular carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28284560 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hepatocellular carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28284560 | |
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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 |
4. | A novel liver-specific zona pellucida domain containing protein that is expressed rarely in hepatocellular carcinoma. | Xu ZG, etal., Hepatology 2003 Sep;38(3):735-44. |
PMID:12477932 | PMID:12975309 | PMID:14702039 | PMID:15589826 | PMID:16344560 | PMID:18830570 | PMID:21873635 | PMID:25416956 | PMID:25824785 | PMID:30561431 | PMID:32296183 | PMID:32569156 |
PMID:33961781 | PMID:35256949 | PMID:35353239 | PMID:37201744 |
OIT3 (Homo sapiens - human) |
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Oit3 (Mus musculus - house mouse) |
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Oit3 (Rattus norvegicus - Norway rat) |
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Oit3 (Chinchilla lanigera - long-tailed chinchilla) |
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OIT3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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OIT3 (Canis lupus familiaris - dog) |
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Oit3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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OIT3 (Sus scrofa - pig) |
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OIT3 (Chlorocebus sabaeus - green monkey) |
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Oit3 (Heterocephalus glaber - naked mole-rat) |
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Variants in OIT3
34 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 | copy number loss | See cases [RCV000052530] | Chr10:62229688..74468143 [GRCh38] Chr10:63989447..76227901 [GRCh37] Chr10:63659453..75897907 [NCBI36] Chr10:10q21.2-22.2 |
pathogenic |
GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1 | copy number loss | See cases [RCV000052531] | Chr10:72720628..75612374 [GRCh38] Chr10:74480386..77372132 [GRCh37] Chr10:74150392..77042138 [NCBI36] Chr10:10q22.1-22.2 |
pathogenic |
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 | copy number loss | See cases [RCV000052511] | Chr10:58436466..74415216 [GRCh38] Chr10:60196226..76174974 [GRCh37] Chr10:59866232..75844980 [NCBI36] Chr10:10q21.1-22.2 |
pathogenic |
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 | copy number gain | See cases [RCV000134848] | Chr10:42685306..73715908 [GRCh38] Chr10:43180754..75475666 [GRCh37] Chr10:42500760..75145672 [NCBI36] Chr10:10q11.21-22.2 |
pathogenic |
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 | copy number gain | See cases [RCV000135438] | Chr10:67196567..79422057 [GRCh38] Chr10:68956325..81181813 [GRCh37] Chr10:68626331..80851819 [NCBI36] Chr10:10q21.3-22.3 |
pathogenic |
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 | copy number loss | See cases [RCV000136658] | Chr10:63402579..75296099 [GRCh38] Chr10:65162339..77055857 [GRCh37] Chr10:64832345..76725863 [NCBI36] Chr10:10q21.3-22.2 |
pathogenic|likely benign |
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 | copy number gain | See cases [RCV000138007] | Chr10:50729367..87147204 [GRCh38] Chr10:52489127..88906961 [GRCh37] Chr10:52159133..88896941 [NCBI36] Chr10:10q11.23-23.2 |
pathogenic |
NM_152635.3(OIT3):c.1598C>T (p.Thr533Met) | single nucleotide variant | Malignant tumor of prostate [RCV000205640] | Chr10:72932484 [GRCh38] Chr10:74692242 [GRCh37] Chr10:10q22.1 |
uncertain significance |
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 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_152635.3(OIT3):c.304C>T (p.Arg102Cys) | single nucleotide variant | Inborn genetic diseases [RCV003277180] | Chr10:72898906 [GRCh38] Chr10:74658664 [GRCh37] Chr10:10q22.1 |
uncertain significance |
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 |
NM_152635.3(OIT3):c.902C>T (p.Thr301Ile) | single nucleotide variant | Inborn genetic diseases [RCV003282094] | Chr10:72913419 [GRCh38] Chr10:74673177 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.326A>G (p.Asn109Ser) | single nucleotide variant | Inborn genetic diseases [RCV003295452] | Chr10:72898928 [GRCh38] Chr10:74658686 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 | copy number gain | not provided [RCV000683289] | Chr10:69040366..93194993 [GRCh37] Chr10:10q21.3-23.32 |
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 10p15.3-q26.3(chr10:98087-135477883)x3 | copy number gain | not provided [RCV000749465] | Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_152635.3(OIT3):c.1339G>T (p.Val447Phe) | single nucleotide variant | Inborn genetic diseases [RCV003244612] | Chr10:72924616 [GRCh38] Chr10:74684374 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) | copy number loss | not specified [RCV002052875] | Chr10:68735254..78885714 [GRCh37] Chr10:10q21.3-22.3 |
pathogenic |
GRCh37/hg19 10q22.1-22.2(chr10:74472028-75007588) | copy number gain | not specified [RCV002052877] | Chr10:74472028..75007588 [GRCh37] Chr10:10q22.1-22.2 |
uncertain significance |
GRCh37/hg19 10q22.1(chr10:74573522-74852531)x3 | copy number gain | not provided [RCV001834524] | Chr10:74573522..74852531 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.49G>A (p.Val17Met) | single nucleotide variant | Inborn genetic diseases [RCV002990096] | Chr10:72893847 [GRCh38] Chr10:74653605 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.159C>G (p.Asn53Lys) | single nucleotide variant | Inborn genetic diseases [RCV002733743] | Chr10:72898761 [GRCh38] Chr10:74658519 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.827A>C (p.Asn276Thr) | single nucleotide variant | Inborn genetic diseases [RCV002685069] | Chr10:72913344 [GRCh38] Chr10:74673102 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.398T>G (p.Leu133Arg) | single nucleotide variant | Inborn genetic diseases [RCV002708318] | Chr10:72899000 [GRCh38] Chr10:74658758 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.719G>C (p.Gly240Ala) | single nucleotide variant | Inborn genetic diseases [RCV003001765] | Chr10:72911768 [GRCh38] Chr10:74671526 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.1619G>A (p.Arg540His) | single nucleotide variant | Inborn genetic diseases [RCV002951746] | Chr10:72932505 [GRCh38] Chr10:74692263 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_152635.3(OIT3):c.59T>C (p.Val20Ala) | single nucleotide variant | Inborn genetic diseases [RCV002703886] | Chr10:72893857 [GRCh38] Chr10:74653615 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.460G>A (p.Asp154Asn) | single nucleotide variant | Inborn genetic diseases [RCV003001122] | Chr10:72900400 [GRCh38] Chr10:74660158 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.58G>A (p.Val20Met) | single nucleotide variant | Inborn genetic diseases [RCV002985109] | Chr10:72893856 [GRCh38] Chr10:74653614 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_152635.3(OIT3):c.494G>A (p.Cys165Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002930718] | Chr10:72900434 [GRCh38] Chr10:74660192 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.4C>T (p.Pro2Ser) | single nucleotide variant | Inborn genetic diseases [RCV002930044] | Chr10:72893802 [GRCh38] Chr10:74653560 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.412G>A (p.Val138Ile) | single nucleotide variant | Inborn genetic diseases [RCV002789678] | Chr10:72899014 [GRCh38] Chr10:74658772 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.635G>A (p.Arg212His) | single nucleotide variant | Inborn genetic diseases [RCV002936808] | Chr10:72906686 [GRCh38] Chr10:74666444 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.799T>G (p.Leu267Val) | single nucleotide variant | Inborn genetic diseases [RCV002935796] | Chr10:72913316 [GRCh38] Chr10:74673074 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.502G>A (p.Ala168Thr) | single nucleotide variant | Inborn genetic diseases [RCV002717986] | Chr10:72900442 [GRCh38] Chr10:74660200 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.1048C>G (p.Leu350Val) | single nucleotide variant | Inborn genetic diseases [RCV002655951] | Chr10:72924325 [GRCh38] Chr10:74684083 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.262C>A (p.Leu88Ile) | single nucleotide variant | Inborn genetic diseases [RCV003216227] | Chr10:72898864 [GRCh38] Chr10:74658622 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.1105G>A (p.Val369Ile) | single nucleotide variant | Inborn genetic diseases [RCV003174364] | Chr10:72924382 [GRCh38] Chr10:74684140 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.457G>A (p.Glu153Lys) | single nucleotide variant | Inborn genetic diseases [RCV003174332] | Chr10:72900397 [GRCh38] Chr10:74660155 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.1516C>T (p.Arg506Cys) | single nucleotide variant | Inborn genetic diseases [RCV003173520] | Chr10:72932402 [GRCh38] Chr10:74692160 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.683A>G (p.His228Arg) | single nucleotide variant | Inborn genetic diseases [RCV003175565] | Chr10:72911732 [GRCh38] Chr10:74671490 [GRCh37] Chr10:10q22.1 |
uncertain significance |
NM_152635.3(OIT3):c.1052T>C (p.Leu351Pro) | single nucleotide variant | Inborn genetic diseases [RCV003287835] | Chr10:72924329 [GRCh38] Chr10:74684087 [GRCh37] Chr10:10q22.1 |
uncertain significance |
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 10p13-q26.3(chr10:12829206-135427143) | copy number loss | Distal 10q deletion syndrome [RCV003319583] | Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
NM_152635.3(OIT3):c.752G>A (p.Arg251Gln) | single nucleotide variant | Inborn genetic diseases [RCV003356549] | Chr10:72911801 [GRCh38] Chr10:74671559 [GRCh37] Chr10:10q22.1 |
uncertain significance |
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 | copy number gain | not provided [RCV003484798] | Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2 |
pathogenic |
NM_152635.3(OIT3):c.198G>A (p.Ala66=) | single nucleotide variant | not provided [RCV003417493] | Chr10:72898800 [GRCh38] Chr10:74658558 [GRCh37] Chr10:10q22.1 |
likely benign |
NM_152635.3(OIT3):c.501C>T (p.Cys167=) | single nucleotide variant | not provided [RCV003417494] | Chr10:72900441 [GRCh38] Chr10:74660199 [GRCh37] Chr10:10q22.1 |
likely benign |
GRCh37/hg19 10q22.1-22.2(chr10:74472028-75019111)x3 | copy number gain | not specified [RCV003986877] | Chr10:74472028..75019111 [GRCh37] Chr10:10q22.1-22.2 |
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. |
D10S1146 |
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D10S1432 |
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RH70386 |
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RH81037 |
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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 | ||||||||||||||||
Medium | 7 | 32 | 290 | 290 | 108 | 290 | 1 | 1 | 17 | 16 | 2 | 1 | ||||
Low | 343 | 487 | 247 | 155 | 363 | 149 | 63 | 16 | 394 | 177 | 432 | 207 | 7 | 39 | 20 | |
Below cutoff | 1439 | 1987 | 992 | 158 | 847 | 19 | 3051 | 1520 | 2127 | 159 | 730 | 1157 | 144 | 880 | 2029 | 1 |
RefSeq Acc Id: | ENST00000334011 ⟹ ENSP00000333900 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000622652 ⟹ ENSP00000479787 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_152635 ⟹ NP_689848 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_130125 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_689848 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAG40096 | (Get FASTA) | NCBI Sequence Viewer |
AAI26441 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ88705 | (Get FASTA) | NCBI Sequence Viewer | |
BAC04788 | (Get FASTA) | NCBI Sequence Viewer | |
CAK32166 | (Get FASTA) | NCBI Sequence Viewer | |
EAW54463 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000333900 | ||
ENSP00000333900.5 | |||
ENSP00000479787.1 | |||
GenBank Protein | Q8WWZ8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_689848 ⟸ NM_152635 |
- Peptide Label: | precursor |
- UniProtKB: | A0AVP3 (UniProtKB/Swiss-Prot), Q8N1M8 (UniProtKB/Swiss-Prot), Q8WWZ8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000479787 ⟸ ENST00000622652 |
RefSeq Acc Id: | ENSP00000333900 ⟸ ENST00000334011 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8WWZ8-F1-model_v2 | AlphaFold | Q8WWZ8 | 1-545 | view protein structure |
RGD ID: | 7217823 | ||||||||
Promoter ID: | EPDNEW_H14657 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | OIT3_1 | ||||||||
Description: | oncoprotein induced transcript 3 | ||||||||
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) |
AGR Gene | HGNC:29953 | AgrOrtholog |
COSMIC | OIT3 | COSMIC |
Ensembl Genes | ENSG00000138315 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000334011 | ENTREZGENE |
ENST00000334011.10 | UniProtKB/Swiss-Prot | |
ENST00000622652.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.60.40.4100 | UniProtKB/Swiss-Prot |
Laminin | UniProtKB/Swiss-Prot | |
Zona pellucida, ZP-N domain | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000138315 | GTEx |
HGNC ID | HGNC:29953 | ENTREZGENE |
Human Proteome Map | OIT3 | Human Proteome Map |
InterPro | EGF-like_Ca-bd_dom | UniProtKB/Swiss-Prot |
EGF-like_dom | UniProtKB/Swiss-Prot | |
EGF_Ca-bd_CS | UniProtKB/Swiss-Prot | |
ZP-C | UniProtKB/Swiss-Prot | |
ZP_chr | UniProtKB/Swiss-Prot | |
ZP_dom | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:170392 | UniProtKB/Swiss-Prot |
NCBI Gene | 170392 | ENTREZGENE |
OMIM | 609330 | OMIM |
PANTHER | ENDOGLIN/TGF-BETA RECEPTOR TYPE III | UniProtKB/Swiss-Prot |
ONCOPROTEIN-INDUCED TRANSCRIPT 3 PROTEIN | UniProtKB/Swiss-Prot | |
Pfam | FXa_inhibition | UniProtKB/Swiss-Prot |
Zona_pellucida | UniProtKB/Swiss-Prot | |
PharmGKB | PA142671231 | PharmGKB |
PRINTS | ZPELLUCIDA | UniProtKB/Swiss-Prot |
PROSITE | ASX_HYDROXYL | UniProtKB/Swiss-Prot |
EGF_CA | UniProtKB/Swiss-Prot | |
ZP_2 | UniProtKB/Swiss-Prot | |
SMART | EGF | UniProtKB/Swiss-Prot |
EGF_CA | UniProtKB/Swiss-Prot | |
SM00241 | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | EGF/Laminin | UniProtKB/Swiss-Prot |
UniProt | A0AVP3 | ENTREZGENE |
OIT3_HUMAN | UniProtKB/Swiss-Prot | |
Q8N1M8 | ENTREZGENE | |
Q8WWZ8 | ENTREZGENE | |
UniProt Secondary | A0AVP3 | UniProtKB/Swiss-Prot |
Q8N1M8 | UniProtKB/Swiss-Prot |