Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | inflammatory bowel disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28067908 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | inflammatory bowel disease | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28067908 | |
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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:11313408 | PMID:12477932 | PMID:12928397 | PMID:14702039 | PMID:15340161 | PMID:15489334 | PMID:16303743 | PMID:16344560 | PMID:16710414 | PMID:20237496 | PMID:21873635 | PMID:28514442 |
PMID:28700943 | PMID:29498772 | PMID:32054954 | PMID:32296183 | PMID:33961781 | PMID:35259711 | PMID:35432371 | PMID:35506438 | PMID:38158136 |
SLAMF8 (Homo sapiens - human) |
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Slamf8 (Mus musculus - house mouse) |
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Slamf8 (Rattus norvegicus - Norway rat) |
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Slamf8 (Chinchilla lanigera - long-tailed chinchilla) |
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SLAMF8 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLAMF8 (Canis lupus familiaris - dog) |
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Slamf8 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLAMF8 (Sus scrofa - pig) |
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LOC103223747 (Chlorocebus sabaeus - green monkey) |
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Slamf8 (Heterocephalus glaber - naked mole-rat) |
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Variants in SLAMF8
22 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 | copy number loss | See cases [RCV000051172] | Chr1:159479887..166895086 [GRCh38] Chr1:159449677..166864323 [GRCh37] Chr1:157716301..165130947 [NCBI36] Chr1:1q23.2-24.1 |
pathogenic |
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 | copy number gain | See cases [RCV000051854] | Chr1:157747246..176021247 [GRCh38] Chr1:157717036..175990383 [GRCh37] Chr1:155983660..174257006 [NCBI36] Chr1:1q23.1-25.1 |
pathogenic |
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] | Chr1:156664483..160727411 [GRCh38] Chr1:156634275..160697201 [GRCh37] Chr1:154900899..158963825 [NCBI36] Chr1:1q23.1-23.3 |
pathogenic |
NM_020125.2(SLAMF8):c.494G>A (p.Arg165Gln) | single nucleotide variant | Malignant melanoma [RCV000064249] | Chr1:159833002 [GRCh38] Chr1:159802792 [GRCh37] Chr1:158069416 [NCBI36] Chr1:1q23.2 |
not provided |
NM_001134233.1(C1orf204):c.*804C>T | single nucleotide variant | Malignant melanoma [RCV000064250] | Chr1:159835353 [GRCh38] Chr1:159805143 [GRCh37] Chr1:158071767 [NCBI36] Chr1:1q23.2 |
not provided |
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 | copy number gain | See cases [RCV000143515] | Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_020125.3(SLAMF8):c.119C>G (p.Pro40Arg) | single nucleotide variant | Inborn genetic diseases [RCV003255701] | Chr1:159829944 [GRCh38] Chr1:159799734 [GRCh37] Chr1:1q23.2 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_020125.3(SLAMF8):c.235C>G (p.Arg79Gly) | single nucleotide variant | Inborn genetic diseases [RCV003290930] | Chr1:159830060 [GRCh38] Chr1:159799850 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_020125.3(SLAMF8):c.710T>A (p.Val237Glu) | single nucleotide variant | Inborn genetic diseases [RCV003304497] | Chr1:159833298 [GRCh38] Chr1:159803088 [GRCh37] Chr1:1q23.2 |
uncertain significance |
GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3 | copy number gain | not provided [RCV002474924] | Chr1:159778364..160770515 [GRCh37] Chr1:1q23.2-23.3 |
uncertain significance |
NM_020125.3(SLAMF8):c.650G>T (p.Trp217Leu) | single nucleotide variant | Inborn genetic diseases [RCV002841805] | Chr1:159833158 [GRCh38] Chr1:159802948 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_020125.3(SLAMF8):c.56C>T (p.Thr19Ile) | single nucleotide variant | Inborn genetic diseases [RCV002734342] | Chr1:159829881 [GRCh38] Chr1:159799671 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_020125.3(SLAMF8):c.23G>A (p.Ser8Asn) | single nucleotide variant | Inborn genetic diseases [RCV002703871] | Chr1:159826921 [GRCh38] Chr1:159796711 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_020125.3(SLAMF8):c.271G>A (p.Gly91Arg) | single nucleotide variant | Inborn genetic diseases [RCV002710010] | Chr1:159830096 [GRCh38] Chr1:159799886 [GRCh37] Chr1:1q23.2 |
likely benign |
NM_020125.3(SLAMF8):c.413G>A (p.Arg138Lys) | single nucleotide variant | Inborn genetic diseases [RCV002698528] | Chr1:159832921 [GRCh38] Chr1:159802711 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_020125.3(SLAMF8):c.497G>T (p.Arg166Leu) | single nucleotide variant | Inborn genetic diseases [RCV002718600] | Chr1:159833005 [GRCh38] Chr1:159802795 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_020125.3(SLAMF8):c.513C>G (p.Asp171Glu) | single nucleotide variant | Inborn genetic diseases [RCV002792965] | Chr1:159833021 [GRCh38] Chr1:159802811 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_020125.3(SLAMF8):c.91G>A (p.Gly31Ser) | single nucleotide variant | Inborn genetic diseases [RCV002717762] | Chr1:159829916 [GRCh38] Chr1:159799706 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_020125.3(SLAMF8):c.128T>C (p.Phe43Ser) | single nucleotide variant | Inborn genetic diseases [RCV003217517] | Chr1:159829953 [GRCh38] Chr1:159799743 [GRCh37] Chr1:1q23.2 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_020125.3(SLAMF8):c.92G>A (p.Gly31Asp) | single nucleotide variant | Inborn genetic diseases [RCV003244463] | Chr1:159829917 [GRCh38] Chr1:159799707 [GRCh37] Chr1:1q23.2 |
likely benign |
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 | copy number loss | not provided [RCV000848773] | Chr1:157321299..167391423 [GRCh37] Chr1:1q23.1-24.2 |
pathogenic |
NC_000001.10:g.(?_158581054)_(162750036_?)dup | duplication | Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] | Chr1:158581054..162750036 [GRCh37] Chr1:1q23.1-23.3 |
uncertain significance|no classifications from unflagged records |
NM_020125.3(SLAMF8):c.667G>A (p.Glu223Lys) | single nucleotide variant | Inborn genetic diseases [RCV003196407] | Chr1:159833175 [GRCh38] Chr1:159802965 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_020125.3(SLAMF8):c.496C>T (p.Arg166Trp) | single nucleotide variant | Inborn genetic diseases [RCV003204274] | Chr1:159833004 [GRCh38] Chr1:159802794 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_020125.3(SLAMF8):c.298A>C (p.Asn100His) | single nucleotide variant | Inborn genetic diseases [RCV003205851] | Chr1:159830123 [GRCh38] Chr1:159799913 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_020125.3(SLAMF8):c.707T>C (p.Leu236Pro) | single nucleotide variant | Inborn genetic diseases [RCV003386066] | Chr1:159833295 [GRCh38] Chr1:159803085 [GRCh37] Chr1:1q23.2 |
uncertain significance |
NM_020125.3(SLAMF8):c.406G>A (p.Val136Ile) | single nucleotide variant | Inborn genetic diseases [RCV003366666] | Chr1:159832914 [GRCh38] Chr1:159802704 [GRCh37] Chr1:1q23.2 |
uncertain significance |
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 | copy number loss | not provided [RCV003483944] | Chr1:158001058..162858285 [GRCh37] Chr1:1q23.1-23.3 |
likely pathogenic |
NM_020125.3(SLAMF8):c.725C>T (p.Ser242Leu) | single nucleotide variant | Inborn genetic diseases [RCV003354331] | Chr1:159833313 [GRCh38] Chr1:159803103 [GRCh37] Chr1:1q23.2 |
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. |
SLAMF8_2285 |
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WI-11725 |
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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 | |||||||||||||||||
Medium | 188 | 265 | 166 | 48 | 434 | 29 | 225 | 22 | 298 | 75 | 120 | 537 | 20 | 206 | 77 | ||
Low | 2126 | 2568 | 1372 | 403 | 910 | 261 | 3552 | 1711 | 2853 | 280 | 1201 | 888 | 144 | 996 | 2379 | 2 | |
Below cutoff | 62 | 140 | 152 | 145 | 252 | 144 | 396 | 427 | 512 | 42 | 70 | 106 | 7 | 2 | 331 | 1 | 1 |
RefSeq Transcripts | NM_001330741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_020125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_005245345 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011509775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011509776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011509777 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011509778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011509779 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017001844 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017001845 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017001846 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337743 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337744 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337745 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337749 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054337750 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF144235 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF146761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK074669 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL590560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC109194 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CQ782632 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA578369 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000289707 ⟹ ENSP00000289707 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000368104 ⟹ ENSP00000357084 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000471286 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000497141 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001330741 ⟹ NP_001317670 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_020125 ⟹ NP_064510 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005245345 ⟹ XP_005245402 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011509775 ⟹ XP_011508077 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011509776 ⟹ XP_011508078 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011509777 ⟹ XP_011508079 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011509778 ⟹ XP_011508080 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011509779 ⟹ XP_011508081 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017001844 ⟹ XP_016857333 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017001845 ⟹ XP_016857334 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017001846 ⟹ XP_016857335 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_054337742 ⟹ XP_054193717 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337743 ⟹ XP_054193718 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337744 ⟹ XP_054193719 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337745 ⟹ XP_054193720 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337746 ⟹ XP_054193721 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337747 ⟹ XP_054193722 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337748 ⟹ XP_054193723 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337749 ⟹ XP_054193724 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054337750 ⟹ XP_054193725 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001317670 | (Get FASTA) | NCBI Sequence Viewer |
NP_064510 | (Get FASTA) | NCBI Sequence Viewer | |
XP_005245402 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011508077 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011508078 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011508079 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011508080 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011508081 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016857333 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016857334 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016857335 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193717 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193718 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193719 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193720 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193721 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193722 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193723 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193724 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054193725 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD33923 | (Get FASTA) | NCBI Sequence Viewer |
AAF67470 | (Get FASTA) | NCBI Sequence Viewer | |
AAI09195 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11123 | (Get FASTA) | NCBI Sequence Viewer | |
CAF85891 | (Get FASTA) | NCBI Sequence Viewer | |
EAW52774 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000289707 | ||
ENSP00000289707.5 | |||
ENSP00000357084 | |||
ENSP00000357084.4 | |||
GenBank Protein | Q9P0V8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_064510 ⟸ NM_020125 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q32MC6 (UniProtKB/Swiss-Prot), Q5VU15 (UniProtKB/Swiss-Prot), Q9P0V8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005245402 ⟸ XM_005245345 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_011508077 ⟸ XM_011509775 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_011508079 ⟸ XM_011509777 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_011508078 ⟸ XM_011509776 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_011508080 ⟸ XM_011509778 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_011508081 ⟸ XM_011509779 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_016857333 ⟸ XM_017001844 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | XP_016857334 ⟸ XM_017001845 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_016857335 ⟸ XM_017001846 |
- Peptide Label: | isoform X7 |
- Sequence: |
RefSeq Acc Id: | NP_001317670 ⟸ NM_001330741 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9P0V8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000289707 ⟸ ENST00000289707 |
RefSeq Acc Id: | ENSP00000357084 ⟸ ENST00000368104 |
RefSeq Acc Id: | XP_054193717 ⟸ XM_054337742 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054193719 ⟸ XM_054337744 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054193718 ⟸ XM_054337743 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054193722 ⟸ XM_054337747 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_054193725 ⟸ XM_054337750 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_054193723 ⟸ XM_054337748 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_054193724 ⟸ XM_054337749 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_054193720 ⟸ XM_054337745 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054193721 ⟸ XM_054337746 |
- Peptide Label: | isoform X4 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9P0V8-F1-model_v2 | AlphaFold | Q9P0V8 | 1-285 | view protein structure |
RGD ID: | 6786863 | ||||||||
Promoter ID: | HG_KWN:5706 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, Lymphoblastoid | ||||||||
Transcripts: | ENST00000368104, NM_020125 | ||||||||
Position: |
|
RGD ID: | 6857730 | ||||||||
Promoter ID: | EPDNEW_H2030 | ||||||||
Type: | initiation region | ||||||||
Name: | SLAMF8_2 | ||||||||
Description: | SLAM family member 8 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2031 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6857732 | ||||||||
Promoter ID: | EPDNEW_H2031 | ||||||||
Type: | initiation region | ||||||||
Name: | SLAMF8_1 | ||||||||
Description: | SLAM family member 8 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2030 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:21391 | AgrOrtholog |
COSMIC | SLAMF8 | COSMIC |
Ensembl Genes | ENSG00000158714 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000289707 | ENTREZGENE |
ENST00000289707.10 | UniProtKB/Swiss-Prot | |
ENST00000368104 | ENTREZGENE | |
ENST00000368104.4 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000158714 | GTEx |
HGNC ID | HGNC:21391 | ENTREZGENE |
Human Proteome Map | SLAMF8 | Human Proteome Map |
InterPro | Ig-like_dom | UniProtKB/Swiss-Prot |
Ig-like_dom_sf | UniProtKB/Swiss-Prot | |
Ig-like_fold | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:56833 | UniProtKB/Swiss-Prot |
NCBI Gene | 56833 | ENTREZGENE |
OMIM | 606620 | OMIM |
PANTHER | SIGNALING LYMPHOCYTIC ACTIVATION MOLECULE | UniProtKB/Swiss-Prot |
SLAM FAMILY MEMBER 8 | UniProtKB/Swiss-Prot | |
PharmGKB | PA134983606 | PharmGKB |
PROSITE | IG_LIKE | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot |
UniProt | Q32MC6 | ENTREZGENE |
Q5VU15 | ENTREZGENE | |
Q9P0V8 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q32MC6 | UniProtKB/Swiss-Prot |
Q5VU15 | UniProtKB/Swiss-Prot |