Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | alopecia areata | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20596022 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | alopecia areata | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:20596022 | |
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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:11239445 | PMID:11491531 | PMID:11754823 | PMID:11777960 | PMID:11827464 | PMID:12477932 | PMID:12753652 | PMID:15051759 | PMID:18394338 | PMID:18544572 | PMID:19688209 | PMID:19798433 |
PMID:20219610 | PMID:20237496 | PMID:20530255 | PMID:20596022 | PMID:21048031 | PMID:21320692 | PMID:21689246 | PMID:21873635 | PMID:21874023 | PMID:21934670 | PMID:23319000 | PMID:24677544 |
PMID:25138242 | PMID:25659154 | PMID:25980678 | PMID:25995251 | PMID:26186194 | PMID:27142445 | PMID:28514442 | PMID:28559451 | PMID:30561431 | PMID:32814053 | PMID:33961781 | PMID:34732716 |
PMID:37499664 |
ULBP3 (Homo sapiens - human) |
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Ulbp3 (Mus musculus - house mouse) |
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ULBP3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LOC100683099 (Canis lupus familiaris - dog) |
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ULBP1 (Sus scrofa - pig) |
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ULBP3 (Chlorocebus sabaeus - green monkey) |
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Variants in ULBP3
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 6q24.1-25.1(chr6:139513020-150389231)x1 | copy number loss | See cases [RCV000510942] | Chr6:139513020..150389231 [GRCh37] Chr6:6q24.1-25.1 |
pathogenic |
NM_024518.3(ULBP3):c.397G>A (p.Asp133Asn) | single nucleotide variant | Inborn genetic diseases [RCV003251105] | Chr6:150065629 [GRCh38] Chr6:150386765 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_024518.3(ULBP3):c.335A>T (p.Glu112Val) | single nucleotide variant | Inborn genetic diseases [RCV003248062] | Chr6:150065916 [GRCh38] Chr6:150387052 [GRCh37] Chr6:6q25.1 |
uncertain significance |
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(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [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 6q24.3-25.3(chr6:148195086-160127254)x3 | copy number gain | not provided [RCV000846496] | Chr6:148195086..160127254 [GRCh37] Chr6:6q24.3-25.3 |
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 |
NM_024518.3(ULBP3):c.77C>T (p.Thr26Met) | single nucleotide variant | Inborn genetic diseases [RCV002753200] | Chr6:150068990 [GRCh38] Chr6:150390126 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_024518.3(ULBP3):c.439C>T (p.Arg147Trp) | single nucleotide variant | Inborn genetic diseases [RCV002708099] | Chr6:150065587 [GRCh38] Chr6:150386723 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_024518.3(ULBP3):c.266G>A (p.Gly89Glu) | single nucleotide variant | Inborn genetic diseases [RCV003000924] | Chr6:150065985 [GRCh38] Chr6:150387121 [GRCh37] Chr6:6q25.1 |
likely benign |
NM_024518.3(ULBP3):c.32C>T (p.Pro11Leu) | single nucleotide variant | Inborn genetic diseases [RCV002950998] | Chr6:150069035 [GRCh38] Chr6:150390171 [GRCh37] Chr6:6q25.1 |
likely benign |
NM_024518.3(ULBP3):c.368A>G (p.Gln123Arg) | single nucleotide variant | Inborn genetic diseases [RCV002744824] | Chr6:150065658 [GRCh38] Chr6:150386794 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_024518.3(ULBP3):c.641T>C (p.Met214Thr) | single nucleotide variant | Inborn genetic diseases [RCV003183326] | Chr6:150064701 [GRCh38] Chr6:150385837 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_024518.3(ULBP3):c.409C>T (p.Arg137Cys) | single nucleotide variant | Inborn genetic diseases [RCV003260083] | Chr6:150065617 [GRCh38] Chr6:150386753 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_024518.3(ULBP3):c.253A>T (p.Thr85Ser) | single nucleotide variant | Inborn genetic diseases [RCV003384042] | Chr6:150065998 [GRCh38] Chr6:150387134 [GRCh37] Chr6:6q25.1 |
uncertain significance |
NM_024518.3(ULBP3):c.470G>A (p.Arg157Lys) | single nucleotide variant | Inborn genetic diseases [RCV003366782] | Chr6:150065556 [GRCh38] Chr6:150386692 [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. |
D8S2278 |
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D8S2279 |
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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 | 71 | 31 | 8 | 7 | 8 | 39 | 13 | 52 | 44 | 113 | 136 | 8 | 1 | |||
Low | 399 | 655 | 1006 | 136 | 402 | 88 | 1565 | 159 | 1051 | 259 | 826 | 1220 | 54 | 927 | 672 | 3 |
Below cutoff | 1601 | 1776 | 545 | 350 | 902 | 249 | 2316 | 1454 | 1974 | 104 | 424 | 228 | 100 | 269 | 1735 |
RefSeq Transcripts | NM_024518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AB052908 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF304379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF346596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI298332 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK297815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK302076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK315275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL355497 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY027538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC098127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA488356 | (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 |
RefSeq Acc Id: | ENST00000367339 ⟹ ENSP00000356308 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000438272 ⟹ ENSP00000403562 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_024518 ⟹ NP_078794 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_078794 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH98127 | (Get FASTA) | NCBI Sequence Viewer |
AAK13049 | (Get FASTA) | NCBI Sequence Viewer | |
AAK13083 | (Get FASTA) | NCBI Sequence Viewer | |
AAN40839 | (Get FASTA) | NCBI Sequence Viewer | |
BAB61050 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37687 | (Get FASTA) | NCBI Sequence Viewer | |
BAG60153 | (Get FASTA) | NCBI Sequence Viewer | |
BAG63465 | (Get FASTA) | NCBI Sequence Viewer | |
EAW47772 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000356308 | ||
ENSP00000356308.1 | |||
ENSP00000403562.2 | |||
GenBank Protein | Q9BZM4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_078794 ⟸ NM_024518 |
- UniProtKB: | Q8IZX5 (UniProtKB/Swiss-Prot), Q5VY82 (UniProtKB/Swiss-Prot), Q8TE75 (UniProtKB/Swiss-Prot), Q9BZM4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000403562 ⟸ ENST00000438272 |
RefSeq Acc Id: | ENSP00000356308 ⟸ ENST00000367339 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9BZM4-F1-model_v2 | AlphaFold | Q9BZM4 | 1-244 | view protein structure |
RGD ID: | 7209429 | ||||||||
Promoter ID: | EPDNEW_H10460 | ||||||||
Type: | initiation region | ||||||||
Name: | ULBP3_1 | ||||||||
Description: | UL16 binding protein 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10461 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 7209431 | ||||||||
Promoter ID: | EPDNEW_H10461 | ||||||||
Type: | initiation region | ||||||||
Name: | ULBP3_2 | ||||||||
Description: | UL16 binding protein 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H10460 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 6804981 | ||||||||
Promoter ID: | HG_KWN:55418 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell_12Hour, HeLa_S3 | ||||||||
Transcripts: | ENST00000367339, UC003QNS.2 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:14895 | AgrOrtholog |
COSMIC | ULBP3 | COSMIC |
Ensembl Genes | ENSG00000131019 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000367339 | ENTREZGENE |
ENST00000367339.7 | UniProtKB/Swiss-Prot | |
ENST00000438272.2 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.30.500.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000131019 | GTEx |
HGNC ID | HGNC:14895 | ENTREZGENE |
Human Proteome Map | ULBP3 | Human Proteome Map |
InterPro | MHC_I-like_Ag-recog | UniProtKB/Swiss-Prot |
MHC_I-like_Ag-recog_sf | UniProtKB/Swiss-Prot | |
MHC_I/II-like_Ag-recog | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:79465 | UniProtKB/Swiss-Prot |
NCBI Gene | 79465 | ENTREZGENE |
OMIM | 605699 | OMIM |
PANTHER | MHC CLASS I-RELATED | UniProtKB/Swiss-Prot |
UL16-BINDING PROTEIN 3 | UniProtKB/Swiss-Prot | |
Pfam | MHC_I | UniProtKB/Swiss-Prot |
PharmGKB | PA37917 | PharmGKB |
Superfamily-SCOP | SSF54452 | UniProtKB/Swiss-Prot |
UniProt | Q5VY82 | ENTREZGENE |
Q8IZX5 | ENTREZGENE | |
Q8TE75 | ENTREZGENE | |
Q9BZM4 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q5VY82 | UniProtKB/Swiss-Prot |
Q8IZX5 | UniProtKB/Swiss-Prot | |
Q8TE75 | UniProtKB/Swiss-Prot |