Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | medulloblastoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19270706 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | medulloblastoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19270706 | |
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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:10591208 | PMID:11076863 | PMID:11230166 | PMID:11256614 | PMID:11682070 | PMID:12004135 | PMID:12477932 | PMID:14702039 | PMID:15461802 | PMID:15489334 | PMID:15489336 | PMID:16189514 |
PMID:16381901 | PMID:16751776 | PMID:17540172 | PMID:18029348 | PMID:19233876 | PMID:19241375 | PMID:20360068 | PMID:20385135 | PMID:21549307 | PMID:21596310 | PMID:21654808 | PMID:21873635 |
PMID:21988832 | PMID:22325352 | PMID:24369422 | PMID:24457600 | PMID:24981860 | PMID:25056061 | PMID:25416956 | PMID:25609649 | PMID:26186194 | PMID:26437366 | PMID:26496610 | PMID:26673895 |
PMID:26871637 | PMID:27107012 | PMID:27705803 | PMID:27918536 | PMID:28514442 | PMID:28718761 | PMID:29028833 | PMID:29117863 | PMID:29395067 | PMID:29467282 | PMID:29581593 | PMID:29778605 |
PMID:29844126 | PMID:29997244 | PMID:30415952 | PMID:30804502 | PMID:31343991 | PMID:31409639 | PMID:31586073 | PMID:31871319 | PMID:32296183 | PMID:32891193 | PMID:33766124 | PMID:33916271 |
PMID:33957083 | PMID:33961781 | PMID:34079125 | PMID:34672954 | PMID:34709266 | PMID:34728620 | PMID:35140242 | PMID:35439318 | PMID:35705031 | PMID:35933409 | PMID:35941108 | PMID:35944360 |
PMID:36089195 | PMID:36129980 | PMID:36180527 | PMID:36537216 | PMID:36912080 | PMID:37689310 | PMID:37992172 | PMID:38297188 |
L3MBTL2 (Homo sapiens - human) |
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L3mbtl2 (Mus musculus - house mouse) |
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L3mbtl2 (Rattus norvegicus - Norway rat) |
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L3mbtl2 (Chinchilla lanigera - long-tailed chinchilla) |
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L3MBTL2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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L3MBTL2 (Canis lupus familiaris - dog) |
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L3mbtl2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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L3MBTL2 (Sus scrofa - pig) |
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L3MBTL2 (Chlorocebus sabaeus - green monkey) |
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L3mbtl2 (Heterocephalus glaber - naked mole-rat) |
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Variants in L3MBTL2
40 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3 | copy number gain | See cases [RCV000050897] | Chr22:40860894..41306006 [GRCh38] Chr22:41256898..41702010 [GRCh37] Chr22:39586844..40031956 [NCBI36] Chr22:22q13.2 |
uncertain significance |
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 | copy number gain | See cases [RCV000051682] | Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 | copy number gain | See cases [RCV000051684] | Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33 |
pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 | copy number gain | See cases [RCV000133646] | Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 | copy number gain | See cases [RCV000134730] | Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33 |
pathogenic |
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 | copy number gain | See cases [RCV000134513] | Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33 |
pathogenic |
GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3 | copy number gain | See cases [RCV000134514] | Chr22:40769910..41360090 [GRCh38] Chr22:41165914..41756094 [GRCh37] Chr22:39495860..40086040 [NCBI36] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 | copy number gain | See cases [RCV000240091] | Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 | copy number gain | See cases [RCV000240469] | Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33 |
pathogenic |
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 | copy number gain | See cases [RCV000240459] | Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 | copy number gain | See cases [RCV000446956] | Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 | copy number gain | See cases [RCV000448847] | Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q13.1-13.2(chr22:40233644-41655673)x3 | copy number gain | See cases [RCV000448955] | Chr22:40233644..41655673 [GRCh37] Chr22:22q13.1-13.2 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) | copy number gain | See cases [RCV000510873] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_031488.5(L3MBTL2):c.1670C>T (p.Thr557Met) | single nucleotide variant | Inborn genetic diseases [RCV003299790] | Chr22:41227171 [GRCh38] Chr22:41623175 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.557A>G (p.Lys186Arg) | single nucleotide variant | Inborn genetic diseases [RCV003245631] | Chr22:41217159 [GRCh38] Chr22:41613163 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NC_000022.10:g.(?_41264983)_(41729217_?)dup | duplication | Nephronophthisis-like nephropathy 1 [RCV000556646] | Chr22:40868979..41333213 [GRCh38] Chr22:41264983..41729217 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q13.2(chr22:41568382-41673592)x3 | copy number gain | See cases [RCV000512234] | Chr22:41568382..41673592 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 | copy number gain | See cases [RCV000512333] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 | copy number gain | not provided [RCV000741689] | Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 | copy number gain | not provided [RCV000741691] | Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 | copy number gain | not provided [RCV000741692] | Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_031488.5(L3MBTL2):c.1057C>T (p.Leu353=) | single nucleotide variant | not provided [RCV000899914] | Chr22:41224134 [GRCh38] Chr22:41620138 [GRCh37] Chr22:22q13.2 |
benign |
NM_031488.5(L3MBTL2):c.101G>C (p.Arg34Pro) | single nucleotide variant | not provided [RCV000950875] | Chr22:41209772 [GRCh38] Chr22:41605776 [GRCh37] Chr22:22q13.2 |
benign |
GRCh37/hg19 22q13.2(chr22:41590999-41759326)x1 | copy number loss | not provided [RCV000846905] | Chr22:41590999..41759326 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 | copy number gain | not provided [RCV001007181] | Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 | copy number gain | not provided [RCV000846344] | Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NM_031488.5(L3MBTL2):c.759C>T (p.Asp253=) | single nucleotide variant | not provided [RCV000958242] | Chr22:41220774 [GRCh38] Chr22:41616778 [GRCh37] Chr22:22q13.2 |
benign |
NM_031488.5(L3MBTL2):c.1213A>G (p.Lys405Glu) | single nucleotide variant | Inborn genetic diseases [RCV002748779] | Chr22:41224763 [GRCh38] Chr22:41620767 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.125G>A (p.Ser42Asn) | single nucleotide variant | Inborn genetic diseases [RCV003276678] | Chr22:41209796 [GRCh38] Chr22:41605800 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 | copy number gain | not provided [RCV001007502] | Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 | copy number gain | See cases [RCV001263056] | Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NC_000022.10:g.(?_41277754)_(43089957_?)dup | duplication | Immunodeficiency, common variable, 4 [RCV001979926] | Chr22:41277754..43089957 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NC_000022.10:g.(?_35776672)_(42486826_?)dup | duplication | Adenylosuccinate lyase deficiency [RCV003119093] | Chr22:35776672..42486826 [GRCh37] Chr22:22q12.3-13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.874G>A (p.Asp292Asn) | single nucleotide variant | Inborn genetic diseases [RCV003259234] | Chr22:41221219 [GRCh38] Chr22:41617223 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.2017C>T (p.Arg673Cys) | single nucleotide variant | Inborn genetic diseases [RCV003264515] | Chr22:41230150 [GRCh38] Chr22:41626154 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.703G>A (p.Val235Ile) | single nucleotide variant | Inborn genetic diseases [RCV002860735] | Chr22:41219521 [GRCh38] Chr22:41615525 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.925G>A (p.Val309Met) | single nucleotide variant | Inborn genetic diseases [RCV002774530] | Chr22:41221270 [GRCh38] Chr22:41617274 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.1991C>G (p.Pro664Arg) | single nucleotide variant | Inborn genetic diseases [RCV002689315] | Chr22:41229642 [GRCh38] Chr22:41625646 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.1310T>C (p.Ile437Thr) | single nucleotide variant | Inborn genetic diseases [RCV002860794] | Chr22:41225025 [GRCh38] Chr22:41621029 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.89A>G (p.Tyr30Cys) | single nucleotide variant | Inborn genetic diseases [RCV002732017] | Chr22:41209760 [GRCh38] Chr22:41605764 [GRCh37] Chr22:22q13.2 |
uncertain significance |
GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3 | copy number gain | not provided [RCV002475709] | Chr22:39768795..41946225 [GRCh37] Chr22:22q13.1-13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.808A>C (p.Ile270Leu) | single nucleotide variant | Inborn genetic diseases [RCV002837251] | Chr22:41220823 [GRCh38] Chr22:41616827 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.627T>A (p.Asp209Glu) | single nucleotide variant | Inborn genetic diseases [RCV002799219] | Chr22:41219445 [GRCh38] Chr22:41615449 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.575C>T (p.Ala192Val) | single nucleotide variant | Inborn genetic diseases [RCV002692343] | Chr22:41217177 [GRCh38] Chr22:41613181 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.9G>T (p.Lys3Asn) | single nucleotide variant | Inborn genetic diseases [RCV002783106] | Chr22:41205371 [GRCh38] Chr22:41601375 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.1538A>G (p.Tyr513Cys) | single nucleotide variant | Inborn genetic diseases [RCV002803585] | Chr22:41226695 [GRCh38] Chr22:41622699 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.2029G>A (p.Glu677Lys) | single nucleotide variant | Inborn genetic diseases [RCV002892409] | Chr22:41230162 [GRCh38] Chr22:41626166 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.901C>G (p.Leu301Val) | single nucleotide variant | Inborn genetic diseases [RCV002652301] | Chr22:41221246 [GRCh38] Chr22:41617250 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.1342G>A (p.Ala448Thr) | single nucleotide variant | Inborn genetic diseases [RCV002940139] | Chr22:41225057 [GRCh38] Chr22:41621061 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.518A>T (p.Asp173Val) | single nucleotide variant | Inborn genetic diseases [RCV002934115] | Chr22:41216260 [GRCh38] Chr22:41612264 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.20T>C (p.Ile7Thr) | single nucleotide variant | Inborn genetic diseases [RCV002855823] | Chr22:41205382 [GRCh38] Chr22:41601386 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.1231G>A (p.Val411Ile) | single nucleotide variant | Inborn genetic diseases [RCV002987856] | Chr22:41224781 [GRCh38] Chr22:41620785 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.1393G>A (p.Gly465Arg) | single nucleotide variant | Inborn genetic diseases [RCV002722327] | Chr22:41225830 [GRCh38] Chr22:41621834 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.652G>C (p.Val218Leu) | single nucleotide variant | Inborn genetic diseases [RCV003218086] | Chr22:41219470 [GRCh38] Chr22:41615474 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.232C>T (p.Arg78Cys) | single nucleotide variant | Inborn genetic diseases [RCV003185021] | Chr22:41209903 [GRCh38] Chr22:41605907 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.1771G>A (p.Val591Ile) | single nucleotide variant | Inborn genetic diseases [RCV003210710] | Chr22:41227272 [GRCh38] Chr22:41623276 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.230C>A (p.Pro77His) | single nucleotide variant | Inborn genetic diseases [RCV003220051] | Chr22:41209901 [GRCh38] Chr22:41605905 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.899G>A (p.Arg300Gln) | single nucleotide variant | Inborn genetic diseases [RCV003265921] | Chr22:41221244 [GRCh38] Chr22:41617248 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.2018G>A (p.Arg673His) | single nucleotide variant | Inborn genetic diseases [RCV003340088] | Chr22:41230151 [GRCh38] Chr22:41626155 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.697G>A (p.Ala233Thr) | single nucleotide variant | Inborn genetic diseases [RCV003364164] | Chr22:41219515 [GRCh38] Chr22:41615519 [GRCh37] Chr22:22q13.2 |
uncertain significance |
NM_031488.5(L3MBTL2):c.1819G>A (p.Ala607Thr) | single nucleotide variant | Inborn genetic diseases [RCV003349285] | Chr22:41227320 [GRCh38] Chr22:41623324 [GRCh37] Chr22:22q13.2 |
likely benign |
GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3 | copy number gain | Syndromic craniosynostosis [RCV003481509] | Chr22:40545592..42096995 [GRCh37] Chr22:22q13.1-13.2 |
likely pathogenic |
NM_031488.5(L3MBTL2):c.2088C>T (p.Val696=) | single nucleotide variant | not provided [RCV003437613] | Chr22:41230221 [GRCh38] Chr22:41626225 [GRCh37] Chr22:22q13.2 |
likely benign |
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3 | copy number gain | not specified [RCV003986179] | Chr22:39044105..45794212 [GRCh37] Chr22:22q13.1-13.31 |
pathogenic |
GRCh37/hg19 22q13.2(chr22:41430641-41815625)x1 | copy number loss | not specified [RCV003986190] | Chr22:41430641..41815625 [GRCh37] Chr22:22q13.2 |
pathogenic |
GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1 | copy number loss | not specified [RCV003986188] | Chr22:39935185..41752098 [GRCh37] Chr22:22q13.1-13.2 |
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. |
G43605 |
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D22S1539 |
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MARC_6537-6538:992007286:1 |
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GDB:631802 |
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D22S1539 |
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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 | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2327 | 1916 | 1506 | 410 | 1392 | 255 | 3889 | 1435 | 3267 | 307 | 1421 | 1544 | 167 | 1171 | 2335 | 3 | 2 | |
Low | 112 | 1075 | 220 | 214 | 559 | 210 | 468 | 762 | 467 | 112 | 39 | 69 | 8 | 1 | 33 | 453 | 3 | |
Below cutoff |
RefSeq Transcripts | NM_031488 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_011530420 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011530421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028978 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017028980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024452279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441536 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047441537 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054325999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054326000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054326001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054326002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001755320 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001755321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001755322 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002958718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002958719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AJ305226 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AJ305227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK056443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK074091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK097052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK307763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL035658 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL035681 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL136564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC017191 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU184979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR456482 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ576322 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KT584262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU178799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU178800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000216237 ⟹ ENSP00000216237 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000449635 ⟹ ENSP00000399405 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000450939 ⟹ ENSP00000403767 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000452106 ⟹ ENSP00000414423 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000453659 ⟹ ENSP00000405849 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000466589 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000479978 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000481902 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000489136 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_031488 ⟹ NP_113676 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017028976 ⟹ XP_016884465 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017028977 ⟹ XP_016884466 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047441536 ⟹ XP_047297492 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047441537 ⟹ XP_047297493 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054325999 ⟹ XP_054181974 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054326000 ⟹ XP_054181975 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054326001 ⟹ XP_054181976 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054326002 ⟹ XP_054181977 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_113676 | (Get FASTA) | NCBI Sequence Viewer |
XP_016884465 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016884466 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297492 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047297493 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181974 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181975 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181976 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054181977 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH17191 | (Get FASTA) | NCBI Sequence Viewer |
ALQ34257 | (Get FASTA) | NCBI Sequence Viewer | |
ALQ34258 | (Get FASTA) | NCBI Sequence Viewer | |
BAB84917 | (Get FASTA) | NCBI Sequence Viewer | |
BAC04936 | (Get FASTA) | NCBI Sequence Viewer | |
BAG51710 | (Get FASTA) | NCBI Sequence Viewer | |
CAB66499 | (Get FASTA) | NCBI Sequence Viewer | |
CAC37794 | (Get FASTA) | NCBI Sequence Viewer | |
CAC37795 | (Get FASTA) | NCBI Sequence Viewer | |
CAG30368 | (Get FASTA) | NCBI Sequence Viewer | |
EAW60410 | (Get FASTA) | NCBI Sequence Viewer | |
EAW60411 | (Get FASTA) | NCBI Sequence Viewer | |
EAW60412 | (Get FASTA) | NCBI Sequence Viewer | |
EAW60413 | (Get FASTA) | NCBI Sequence Viewer | |
EAW60414 | (Get FASTA) | NCBI Sequence Viewer | |
EAW60415 | (Get FASTA) | NCBI Sequence Viewer | |
EAW60416 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000216237 | ||
ENSP00000216237.5 | |||
ENSP00000399405.1 | |||
ENSP00000403767.1 | |||
ENSP00000414423.1 | |||
GenBank Protein | Q969R5 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_113676 ⟸ NM_031488 |
- UniProtKB: | Q9BQI2 (UniProtKB/Swiss-Prot), Q96SC4 (UniProtKB/Swiss-Prot), Q8TEN1 (UniProtKB/Swiss-Prot), Q9UGS4 (UniProtKB/Swiss-Prot), Q969R5 (UniProtKB/Swiss-Prot), A0A0S2Z5X6 (UniProtKB/TrEMBL), B3KPJ8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016884465 ⟸ XM_017028976 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_016884466 ⟸ XM_017028977 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | ENSP00000403767 ⟸ ENST00000450939 |
RefSeq Acc Id: | ENSP00000216237 ⟸ ENST00000216237 |
RefSeq Acc Id: | ENSP00000414423 ⟸ ENST00000452106 |
RefSeq Acc Id: | ENSP00000405849 ⟸ ENST00000453659 |
RefSeq Acc Id: | ENSP00000399405 ⟸ ENST00000449635 |
RefSeq Acc Id: | XP_047297492 ⟸ XM_047441536 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A0S2Z5Q2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047297493 ⟸ XM_047441537 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054181975 ⟸ XM_054326000 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054181974 ⟸ XM_054325999 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A0S2Z5Q2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054181977 ⟸ XM_054326002 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054181976 ⟸ XM_054326001 |
- Peptide Label: | isoform X3 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q969R5-F1-model_v2 | AlphaFold | Q969R5 | 1-705 | view protein structure |
RGD ID: | 6800076 | ||||||||
Promoter ID: | HG_KWN:42960 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000320613, OTTHUMT00000320614, OTTHUMT00000320616, OTTHUMT00000320618, OTTHUMT00000320619, UC003AZN.1, UC010GYI.1 | ||||||||
Position: |
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RGD ID: | 13604236 | ||||||||
Promoter ID: | EPDNEW_H28302 | ||||||||
Type: | initiation region | ||||||||
Name: | L3MBTL2_1 | ||||||||
Description: | L3MBTL2 polycomb repressive complex 1 subunit | ||||||||
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:18594 | AgrOrtholog |
COSMIC | L3MBTL2 | COSMIC |
Ensembl Genes | ENSG00000100395 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000216237 | ENTREZGENE |
ENST00000216237.10 | UniProtKB/Swiss-Prot | |
ENST00000449635.5 | UniProtKB/TrEMBL | |
ENST00000450939.1 | UniProtKB/TrEMBL | |
ENST00000452106.5 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 2.30.30.140 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.30.60.160 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000100395 | GTEx |
HGNC ID | HGNC:18594 | ENTREZGENE |
Human Proteome Map | L3MBTL2 | Human Proteome Map |
InterPro | Mbt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MBT_L3MBTL2_rpt1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MBT_L3MBTL2_rpt2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_FCS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Znf_FCS_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:83746 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 83746 | ENTREZGENE |
OMIM | 611865 | OMIM |
PANTHER | POLYCOMB GROUP PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR12247:SF64 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | MBT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
zf-FCS_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA38356 | PharmGKB |
PROSITE | MBT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ZF_FCS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | MBT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | Tudor/PWWP/MBT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A0S2Z5Q2 | ENTREZGENE, UniProtKB/TrEMBL |
A0A0S2Z5X6 | ENTREZGENE, UniProtKB/TrEMBL | |
B3KPJ8 | ENTREZGENE, UniProtKB/TrEMBL | |
H0Y5M2_HUMAN | UniProtKB/TrEMBL | |
H7C228_HUMAN | UniProtKB/TrEMBL | |
LMBL2_HUMAN | UniProtKB/Swiss-Prot | |
Q8TEN1 | ENTREZGENE | |
Q969R5 | ENTREZGENE | |
Q96SC4 | ENTREZGENE | |
Q9BQI2 | ENTREZGENE | |
Q9UGS4 | ENTREZGENE | |
UniProt Secondary | Q8TEN1 | UniProtKB/Swiss-Prot |
Q96SC4 | UniProtKB/Swiss-Prot | |
Q9BQI2 | UniProtKB/Swiss-Prot | |
Q9UGS4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-01-29 | L3MBTL2 | L3MBTL histone methyl-lysine binding protein 2 | L3MBTL2, polycomb repressive complex 1 subunit | Symbol and/or name change | 5135510 | APPROVED | |
2017-05-30 | L3MBTL2 | L3MBTL2, polycomb repressive complex 1 subunit | L3MBTL2 polycomb repressive complex 1 subunit | Symbol and/or name change | 5135510 | APPROVED | |
2016-04-26 | L3MBTL2 | L3MBTL2 polycomb repressive complex 1 subunit | l(3)mbt-like 2 (Drosophila) | Symbol and/or name change | 5135510 | APPROVED |