Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Aicardi-Goutieres Syndrome 8 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Aicardi-Goutieres Syndrome 8 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
2. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:11574479 | PMID:12975319 | PMID:14702039 | PMID:15489334 | PMID:16087681 | PMID:16714279 | PMID:16914750 | PMID:18029348 | PMID:18082603 | PMID:19322201 | PMID:19928837 | PMID:21873635 |
PMID:22939629 | PMID:23071092 | PMID:26496610 | PMID:26673895 | PMID:26972000 | PMID:28431233 | PMID:28514442 | PMID:28977470 | PMID:29395067 | PMID:29509190 | PMID:31527615 | PMID:31819999 |
PMID:32203420 | PMID:32296183 | PMID:33230297 | PMID:33961781 | PMID:34079125 | PMID:34373451 | PMID:34728620 | PMID:35271311 |
LSM11 (Homo sapiens - human) |
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Lsm11 (Mus musculus - house mouse) |
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Lsm11 (Rattus norvegicus - Norway rat) |
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Lsm11 (Chinchilla lanigera - long-tailed chinchilla) |
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LSM11 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LSM11 (Canis lupus familiaris - dog) |
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Lsm11 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LSM11 (Sus scrofa - pig) |
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LSM11 (Chlorocebus sabaeus - green monkey) |
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Lsm11 (Heterocephalus glaber - naked mole-rat) |
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Variants in LSM11
29 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 | copy number gain | See cases [RCV000051863] | Chr5:149714592..181272151 [GRCh38] Chr5:149094155..180699152 [GRCh37] Chr5:149074348..180631758 [NCBI36] Chr5:5q32-35.3 |
pathogenic |
GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1 | copy number loss | See cases [RCV000052144] | Chr5:152761187..167248053 [GRCh38] Chr5:152140747..166675058 [GRCh37] Chr5:152120940..166607636 [NCBI36] Chr5:5q33.1-34 |
pathogenic |
GRCh38/hg38 5q33.1-34(chr5:153195314-164014005)x1 | copy number loss | See cases [RCV000052145] | Chr5:153195314..164014005 [GRCh38] Chr5:152574874..163441011 [GRCh37] Chr5:152555067..163373589 [NCBI36] Chr5:5q33.1-34 |
pathogenic |
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 | copy number gain | See cases [RCV000133847] | Chr5:156825512..181269805 [GRCh38] Chr5:156252523..180696806 [GRCh37] Chr5:156185101..180629412 [NCBI36] Chr5:5q33.3-35.3 |
pathogenic |
GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1 | copy number loss | See cases [RCV000138282] | Chr5:152443869..166104392 [GRCh38] Chr5:151823430..165531397 [GRCh37] Chr5:151803623..165463975 [NCBI36] Chr5:5q33.1-34 |
pathogenic |
GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1 | copy number loss | See cases [RCV000240059] | Chr5:154886174..169757448 [GRCh37] Chr5:5q33.2-35.1 |
pathogenic |
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 | copy number gain | not provided [RCV000487658] | Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 | copy number gain | See cases [RCV000449349] | Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) | copy number gain | See cases [RCV000510723] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 | copy number gain | See cases [RCV000448245] | Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3 |
pathogenic |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 | copy number loss | See cases [RCV000511978] | Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 | copy number gain | See cases [RCV000512039] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_173491.4(LSM11):c.170C>A (p.Ala57Glu) | single nucleotide variant | Inborn genetic diseases [RCV003282474] | Chr5:157743920 [GRCh38] Chr5:157170928 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.742T>C (p.Ser248Pro) | single nucleotide variant | Inborn genetic diseases [RCV003253001] | Chr5:157754923 [GRCh38] Chr5:157181931 [GRCh37] Chr5:5q33.3 |
uncertain significance |
GRCh37/hg19 5q33.3(chr5:156911673-157225044)x3 | copy number gain | not provided [RCV000682603] | Chr5:156911673..157225044 [GRCh37] Chr5:5q33.3 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 | copy number gain | not provided [RCV000744317] | Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 | copy number gain | not provided [RCV000744323] | Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 | copy number gain | not provided [RCV000745284] | Chr5:155344802..180693344 [GRCh37] Chr5:5q33.2-35.3 |
pathogenic |
NM_173491.4(LSM11):c.631G>A (p.Gly211Ser) | single nucleotide variant | Aicardi-Goutieres syndrome 8 [RCV001568350] | Chr5:157754046 [GRCh38] Chr5:157181054 [GRCh37] Chr5:5q33.3 |
pathogenic |
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) | copy number gain | Hunter-McAlpine craniosynostosis [RCV002280612] | Chr5:149010383..180719789 [GRCh37] Chr5:5q32-35.3 |
pathogenic |
GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1 | copy number loss | not provided [RCV001005746] | Chr5:156347980..169959880 [GRCh37] Chr5:5q33.3-35.1 |
pathogenic |
GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3 | copy number gain | not provided [RCV000845588] | Chr5:156597181..171166353 [GRCh37] Chr5:5q33.3-35.1 |
pathogenic |
GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1 | copy number loss | not provided [RCV001825167] | Chr5:155970607..162450579 [GRCh37] Chr5:5q33.3-34 |
not provided |
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) | copy number gain | not specified [RCV002053526] | Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3 |
pathogenic |
NM_173491.4(LSM11):c.1014A>C (p.Val338=) | single nucleotide variant | not provided [RCV002214366] | Chr5:157755195 [GRCh38] Chr5:157182203 [GRCh37] Chr5:5q33.3 |
likely benign |
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3 | copy number gain | not provided [RCV002474507] | Chr5:150535183..172906793 [GRCh37] Chr5:5q33.1-35.2 |
pathogenic |
GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1 | copy number loss | not provided [RCV002512289] | Chr5:156786013..162945369 [GRCh37] Chr5:5q33.3-34 |
likely pathogenic |
NM_173491.4(LSM11):c.17G>A (p.Arg6Gln) | single nucleotide variant | Inborn genetic diseases [RCV002844852] | Chr5:157743767 [GRCh38] Chr5:157170775 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.323A>C (p.Glu108Ala) | single nucleotide variant | Inborn genetic diseases [RCV002692604] | Chr5:157744073 [GRCh38] Chr5:157171081 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.254G>T (p.Gly85Val) | single nucleotide variant | Inborn genetic diseases [RCV002870523] | Chr5:157744004 [GRCh38] Chr5:157171012 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.10C>T (p.Arg4Trp) | single nucleotide variant | Inborn genetic diseases [RCV002822780] | Chr5:157743760 [GRCh38] Chr5:157170768 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.535C>T (p.Leu179Phe) | single nucleotide variant | Inborn genetic diseases [RCV002782574] | Chr5:157751476 [GRCh38] Chr5:157178484 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.647G>A (p.Arg216Gln) | single nucleotide variant | Inborn genetic diseases [RCV002888625] | Chr5:157754062 [GRCh38] Chr5:157181070 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.50C>G (p.Ala17Gly) | single nucleotide variant | Inborn genetic diseases [RCV002929634] | Chr5:157743800 [GRCh38] Chr5:157170808 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.206G>A (p.Gly69Asp) | single nucleotide variant | Inborn genetic diseases [RCV002916991] | Chr5:157743956 [GRCh38] Chr5:157170964 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.1025A>T (p.His342Leu) | single nucleotide variant | Inborn genetic diseases [RCV002984318] | Chr5:157755206 [GRCh38] Chr5:157182214 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.242C>G (p.Ala81Gly) | single nucleotide variant | Inborn genetic diseases [RCV002985963] | Chr5:157743992 [GRCh38] Chr5:157171000 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.268C>A (p.Pro90Thr) | single nucleotide variant | Inborn genetic diseases [RCV002803747] | Chr5:157744018 [GRCh38] Chr5:157171026 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.305C>G (p.Ala102Gly) | single nucleotide variant | Inborn genetic diseases [RCV002673362] | Chr5:157744055 [GRCh38] Chr5:157171063 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.17G>C (p.Arg6Pro) | single nucleotide variant | Inborn genetic diseases [RCV002674647] | Chr5:157743767 [GRCh38] Chr5:157170775 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.317A>C (p.Asp106Ala) | single nucleotide variant | Inborn genetic diseases [RCV002722818] | Chr5:157744067 [GRCh38] Chr5:157171075 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.325C>T (p.Arg109Cys) | single nucleotide variant | Inborn genetic diseases [RCV003199490] | Chr5:157744075 [GRCh38] Chr5:157171083 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.721T>C (p.Ser241Pro) | single nucleotide variant | Inborn genetic diseases [RCV003208999] | Chr5:157754902 [GRCh38] Chr5:157181910 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.544G>A (p.Val182Ile) | single nucleotide variant | Inborn genetic diseases [RCV003345360] | Chr5:157751485 [GRCh38] Chr5:157178493 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.974G>A (p.Arg325His) | single nucleotide variant | Inborn genetic diseases [RCV003360028] | Chr5:157755155 [GRCh38] Chr5:157182163 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.881G>C (p.Arg294Thr) | single nucleotide variant | Inborn genetic diseases [RCV003376656] | Chr5:157755062 [GRCh38] Chr5:157182070 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.29C>G (p.Ser10Trp) | single nucleotide variant | Inborn genetic diseases [RCV003346906] | Chr5:157743779 [GRCh38] Chr5:157170787 [GRCh37] Chr5:5q33.3 |
uncertain significance |
NM_173491.4(LSM11):c.228G>A (p.Arg76=) | single nucleotide variant | not specified [RCV003489166] | Chr5:157743978 [GRCh38] Chr5:157170986 [GRCh37] Chr5:5q33.3 |
benign |
NM_173491.4(LSM11):c.108C>T (p.Ala36=) | single nucleotide variant | not provided [RCV003429954] | Chr5:157743858 [GRCh38] Chr5:157170866 [GRCh37] Chr5:5q33.3 |
likely benign |
NM_173491.4(LSM11):c.1062G>A (p.Leu354=) | single nucleotide variant | not provided [RCV003429956] | Chr5:157755243 [GRCh38] Chr5:157182251 [GRCh37] Chr5:5q33.3 |
likely benign |
NM_173491.4(LSM11):c.18G>C (p.Arg6=) | single nucleotide variant | not provided [RCV003429953] | Chr5:157743768 [GRCh38] Chr5:157170776 [GRCh37] Chr5:5q33.3 |
likely benign |
NM_173491.4(LSM11):c.675A>G (p.Leu225=) | single nucleotide variant | not provided [RCV003429955] | Chr5:157754856 [GRCh38] Chr5:157181864 [GRCh37] Chr5:5q33.3 |
likely benign |
NM_173491.4(LSM11):c.843C>G (p.Val281=) | single nucleotide variant | LSM11-related condition [RCV003907160] | Chr5:157755024 [GRCh38] Chr5:157182032 [GRCh37] Chr5:5q33.3 |
likely benign |
NM_173491.4(LSM11):c.208G>A (p.Gly70Ser) | single nucleotide variant | LSM11-related condition [RCV003917094] | Chr5:157743958 [GRCh38] Chr5:157170966 [GRCh37] Chr5:5q33.3 |
likely benign |
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. |
LSM11__7339 |
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AFMa205yh9 |
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L18426 |
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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 | 950 | 29 | 21 | 9 | 142 | 11 | 73 | 663 | 546 | 46 | 345 | 76 | 1 | 5 | 17 | 2 |
Low | 1482 | 2442 | 1684 | 596 | 1408 | 436 | 4244 | 1386 | 3039 | 366 | 1103 | 1532 | 170 | 1199 | 2733 | 2 |
Below cutoff | 513 | 18 | 17 | 398 | 17 | 38 | 144 | 123 | 6 | 38 |
RefSeq Transcripts | NM_173491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC026407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AI271367 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK023159 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK055297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK095592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK123951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC051353 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC126449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT585125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000286307 ⟹ ENSP00000286307 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_173491 ⟹ NP_775762 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_775762 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH51353 | (Get FASTA) | NCBI Sequence Viewer |
AAI26450 | (Get FASTA) | NCBI Sequence Viewer | |
BAC04581 | (Get FASTA) | NCBI Sequence Viewer | |
EAW61589 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000286307 | ||
ENSP00000286307.5 | |||
GenBank Protein | P83369 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_775762 ⟸ NM_173491 |
- UniProtKB: | Q7Z7P0 (UniProtKB/Swiss-Prot), A0AVQ1 (UniProtKB/Swiss-Prot), Q8N975 (UniProtKB/Swiss-Prot), P83369 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000286307 ⟸ ENST00000286307 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P83369-F1-model_v2 | AlphaFold | P83369 | 1-360 | view protein structure |
RGD ID: | 6803338 | ||||||||
Promoter ID: | HG_KWN:51653 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000252580 | ||||||||
Position: |
|
RGD ID: | 6871422 | ||||||||
Promoter ID: | EPDNEW_H8876 | ||||||||
Type: | initiation region | ||||||||
Name: | LSM11_1 | ||||||||
Description: | LSM11, U7 small nuclear RNA associated | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:30860 | AgrOrtholog |
COSMIC | LSM11 | COSMIC |
Ensembl Genes | ENSG00000155858 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000286307 | ENTREZGENE |
ENST00000286307.6 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.30.30.100 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000155858 | GTEx |
HGNC ID | HGNC:30860 | ENTREZGENE |
Human Proteome Map | LSM11 | Human Proteome Map |
InterPro | IPR047575 | UniProtKB/Swiss-Prot |
LSM-related_domain | UniProtKB/Swiss-Prot | |
Lsm11 | UniProtKB/Swiss-Prot | |
Lsm11_M | UniProtKB/Swiss-Prot | |
LSM_dom_euk/arc | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:134353 | UniProtKB/Swiss-Prot |
NCBI Gene | 134353 | ENTREZGENE |
OMIM | 617910 | OMIM |
PANTHER | PTHR21415 | UniProtKB/Swiss-Prot |
U7 SNRNA-ASSOCIATED SM-LIKE PROTEIN LSM11 | UniProtKB/Swiss-Prot | |
PharmGKB | PA134983181 | PharmGKB |
PROSITE | PS52002 | UniProtKB/Swiss-Prot |
SMART | SM00651 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | Sm_like_riboprot | UniProtKB/Swiss-Prot |
UniProt | A0AVQ1 | ENTREZGENE |
L0R895_HUMAN | UniProtKB/TrEMBL | |
LSM11_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q7Z7P0 | ENTREZGENE | |
Q8N975 | ENTREZGENE | |
UniProt Secondary | A0AVQ1 | UniProtKB/Swiss-Prot |
Q7Z7P0 | UniProtKB/Swiss-Prot | |
Q8N975 | UniProtKB/Swiss-Prot |