Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | pancreatic ductal carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:34686948 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | pancreatic ductal carcinoma | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:34686948 | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
2. | ATAC-king the complexity of SAGA during evolution. | Spedale G, etal., Genes Dev. 2012 Mar 15;26(6):527-41. doi: 10.1101/gad.184705.111. |
3. | 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:14702039 | PMID:16344560 | PMID:16428443 | PMID:18838386 | PMID:19103755 | PMID:19274049 | PMID:19505873 | PMID:19936620 | PMID:20211142 | PMID:20508642 | PMID:20562830 | PMID:20850016 |
PMID:21304275 | PMID:21873635 | PMID:21900206 | PMID:21988832 | PMID:22055187 | PMID:23088713 | PMID:23508102 | PMID:23563607 | PMID:24163370 | PMID:24981860 | PMID:25184681 | PMID:25416956 |
PMID:26186194 | PMID:26496610 | PMID:27705803 | PMID:28065597 | PMID:28514442 | PMID:29568061 | PMID:29656893 | PMID:29676528 | PMID:30217978 | PMID:30804502 | PMID:30890647 | PMID:31586073 |
PMID:31741433 | PMID:31753913 | PMID:32296183 | PMID:32891193 | PMID:33961781 | PMID:34079125 | PMID:34709266 | PMID:34795231 | PMID:35013218 | PMID:35140242 | PMID:35271311 | PMID:35439318 |
PMID:35944360 | PMID:36373674 | PMID:36724073 | PMID:37682711 | PMID:37689310 | PMID:38280479 | PMID:38297188 |
ZZZ3 (Homo sapiens - human) |
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Zzz3 (Mus musculus - house mouse) |
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Zzz3 (Rattus norvegicus - Norway rat) |
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Zzz3 (Chinchilla lanigera - long-tailed chinchilla) |
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ZZZ3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ZZZ3 (Canis lupus familiaris - dog) |
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Zzz3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ZZZ3 (Sus scrofa - pig) |
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ZZZ3 (Chlorocebus sabaeus - green monkey) |
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Zzz3 (Heterocephalus glaber - naked mole-rat) |
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Variants in ZZZ3
48 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] | Chr1:72661709..107456880 [GRCh38] Chr1:73127392..107999502 [GRCh37] Chr1:72899980..107801025 [NCBI36] Chr1:1p31.1-13.3 |
pathogenic |
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 | copy number loss | See cases [RCV000136913] | Chr1:58819605..86098611 [GRCh38] Chr1:59285277..86564294 [GRCh37] Chr1:59057865..86336882 [NCBI36] Chr1:1p32.1-22.3 |
pathogenic |
GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1 | copy number loss | See cases [RCV000138957] | Chr1:76419302..88628464 [GRCh38] Chr1:76884987..89094147 [GRCh37] Chr1:76657575..88866735 [NCBI36] Chr1:1p31.1-22.2 |
pathogenic |
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 | copy number loss | not provided [RCV000762767] | Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1 | copy number loss | See cases [RCV000510161] | Chr1:72044544..92505091 [GRCh37] Chr1:1p31.1-22.1 |
pathogenic |
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 | copy number loss | See cases [RCV000511392] | Chr1:64321264..88153669 [GRCh37] Chr1:1p31.3-22.3 |
pathogenic|uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3 | copy number gain | See cases [RCV000510973] | Chr1:74848936..80324850 [GRCh37] Chr1:1p31.1 |
uncertain significance |
GRCh37/hg19 1p31.1(chr1:77823556-78281638)x1 | copy number loss | See cases [RCV000511213] | Chr1:77823556..78281638 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.820C>A (p.Gln274Lys) | single nucleotide variant | Inborn genetic diseases [RCV003251146] | Chr1:77632535 [GRCh38] Chr1:78098220 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.2155A>G (p.Asn719Asp) | single nucleotide variant | Inborn genetic diseases [RCV003299118] | Chr1:77578797 [GRCh38] Chr1:78044482 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.736G>A (p.Asp246Asn) | single nucleotide variant | Inborn genetic diseases [RCV003248070] | Chr1:77632619 [GRCh38] Chr1:78098304 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.698T>G (p.Val233Gly) | single nucleotide variant | Inborn genetic diseases [RCV003253137] | Chr1:77632657 [GRCh38] Chr1:78098342 [GRCh37] Chr1:1p31.1 |
uncertain significance |
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 | copy number loss | See cases [RCV000512152] | Chr1:61351024..79583933 [GRCh37] Chr1:1p31.3-31.1 |
pathogenic |
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(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_015534.6(ZZZ3):c.704A>G (p.Gln235Arg) | single nucleotide variant | not provided [RCV001532067] | Chr1:77632651 [GRCh38] Chr1:78098336 [GRCh37] Chr1:1p31.1 |
uncertain significance |
GRCh37/hg19 1p31.1(chr1:77955577-78040287)x3 | copy number gain | not provided [RCV000736544] | Chr1:77955577..78040287 [GRCh37] Chr1:1p31.1 |
benign |
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 | copy number gain | Global developmental delay [RCV000787285] | Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.2604A>G (p.Gln868=) | single nucleotide variant | not provided [RCV000880719] | Chr1:77565748 [GRCh38] Chr1:78031433 [GRCh37] Chr1:1p31.1 |
benign |
GRCh37/hg19 1p31.1(chr1:71410579-78131158) | copy number gain | not provided [RCV000767771] | Chr1:71410579..78131158 [GRCh37] Chr1:1p31.1 |
pathogenic |
NM_015534.6(ZZZ3):c.1981-8T>C | single nucleotide variant | not provided [RCV000888126] | Chr1:77579636 [GRCh38] Chr1:78045321 [GRCh37] Chr1:1p31.1 |
benign |
Single allele | deletion | not provided [RCV000844927] | Chr1:66085524..88429789 [GRCh37] Chr1:1p31.3-22.2 |
not provided |
GRCh37/hg19 1p31.1(chr1:77954138-78053851)x3 | copy number gain | not provided [RCV000847497] | Chr1:77954138..78053851 [GRCh37] Chr1:1p31.1 |
uncertain significance |
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1 | copy number loss | not provided [RCV000846441] | Chr1:67851233..86101340 [GRCh37] Chr1:1p31.3-22.3 |
pathogenic |
NM_015534.6(ZZZ3):c.1967C>G (p.Thr656Ser) | single nucleotide variant | Inborn genetic diseases [RCV002989845] | Chr1:77581011 [GRCh38] Chr1:78046696 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1567G>T (p.Asp523Tyr) | single nucleotide variant | not provided [RCV000994026] | Chr1:77584594 [GRCh38] Chr1:78050279 [GRCh37] Chr1:1p31.1 |
uncertain significance |
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) | copy number loss | not specified [RCV002053392] | Chr1:68180293..92731957 [GRCh37] Chr1:1p31.3-22.1 |
pathogenic |
Single allele | duplication | not specified [RCV002286371] | Chr1:66885559..77949895 [GRCh38] Chr1:1p31.3-31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1907A>G (p.Gln636Arg) | single nucleotide variant | Inborn genetic diseases [RCV003287746] | Chr1:77581777 [GRCh38] Chr1:78047462 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.2162A>G (p.Tyr721Cys) | single nucleotide variant | Inborn genetic diseases [RCV002685161] | Chr1:77578790 [GRCh38] Chr1:78044475 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1190C>T (p.Ser397Phe) | single nucleotide variant | Inborn genetic diseases [RCV002683990] | Chr1:77632165 [GRCh38] Chr1:78097850 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.2482A>G (p.Ile828Val) | single nucleotide variant | Inborn genetic diseases [RCV002945109] | Chr1:77566166 [GRCh38] Chr1:78031851 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.817G>T (p.Val273Leu) | single nucleotide variant | Inborn genetic diseases [RCV002865846] | Chr1:77632538 [GRCh38] Chr1:78098223 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1142C>T (p.Ser381Leu) | single nucleotide variant | Inborn genetic diseases [RCV002728250] | Chr1:77632213 [GRCh38] Chr1:78097898 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.23G>A (p.Arg8His) | single nucleotide variant | Inborn genetic diseases [RCV002794422] | Chr1:77633332 [GRCh38] Chr1:78099017 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.838C>T (p.His280Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002696376] | Chr1:77632517 [GRCh38] Chr1:78098202 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.563T>G (p.Leu188Arg) | single nucleotide variant | Inborn genetic diseases [RCV002911653] | Chr1:77632792 [GRCh38] Chr1:78098477 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.2596G>T (p.Asp866Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002757636] | Chr1:77565756 [GRCh38] Chr1:78031441 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.48A>T (p.Leu16Phe) | single nucleotide variant | Inborn genetic diseases [RCV002759923] | Chr1:77633307 [GRCh38] Chr1:78098992 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.751A>G (p.Met251Val) | single nucleotide variant | Inborn genetic diseases [RCV002799078] | Chr1:77632604 [GRCh38] Chr1:78098289 [GRCh37] Chr1:1p31.1 |
likely benign |
NM_015534.6(ZZZ3):c.2285G>A (p.Arg762Gln) | single nucleotide variant | Inborn genetic diseases [RCV002869957] | Chr1:77576114 [GRCh38] Chr1:78041799 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.2168A>G (p.Tyr723Cys) | single nucleotide variant | Inborn genetic diseases [RCV002699208] | Chr1:77578784 [GRCh38] Chr1:78044469 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1346G>A (p.Ser449Asn) | single nucleotide variant | Inborn genetic diseases [RCV002709014] | Chr1:77632009 [GRCh38] Chr1:78097694 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1031A>C (p.Glu344Ala) | single nucleotide variant | Inborn genetic diseases [RCV002763077] | Chr1:77632324 [GRCh38] Chr1:78098009 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.976G>A (p.Ala326Thr) | single nucleotide variant | Inborn genetic diseases [RCV002764633] | Chr1:77632379 [GRCh38] Chr1:78098064 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.2589C>G (p.His863Gln) | single nucleotide variant | Inborn genetic diseases [RCV002893089] | Chr1:77565763 [GRCh38] Chr1:78031448 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1249G>A (p.Ala417Thr) | single nucleotide variant | Inborn genetic diseases [RCV002788311] | Chr1:77632106 [GRCh38] Chr1:78097791 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.281A>G (p.Asp94Gly) | single nucleotide variant | Inborn genetic diseases [RCV002935436] | Chr1:77633074 [GRCh38] Chr1:78098759 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.2003T>A (p.Ile668Asn) | single nucleotide variant | Inborn genetic diseases [RCV002668669] | Chr1:77579606 [GRCh38] Chr1:78045291 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1643A>C (p.Lys548Thr) | single nucleotide variant | Inborn genetic diseases [RCV002920504] | Chr1:77584518 [GRCh38] Chr1:78050203 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1322G>C (p.Cys441Ser) | single nucleotide variant | Inborn genetic diseases [RCV002936338] | Chr1:77632033 [GRCh38] Chr1:78097718 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1234C>A (p.Pro412Thr) | single nucleotide variant | Inborn genetic diseases [RCV002809659] | Chr1:77632121 [GRCh38] Chr1:78097806 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.935G>A (p.Arg312Lys) | single nucleotide variant | Inborn genetic diseases [RCV002718677] | Chr1:77632420 [GRCh38] Chr1:78098105 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.2603A>G (p.Gln868Arg) | single nucleotide variant | Inborn genetic diseases [RCV002655830] | Chr1:77565749 [GRCh38] Chr1:78031434 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.854C>T (p.Ala285Val) | single nucleotide variant | Inborn genetic diseases [RCV003213021] | Chr1:77632501 [GRCh38] Chr1:78098186 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.790C>A (p.His264Asn) | single nucleotide variant | Inborn genetic diseases [RCV003210379] | Chr1:77632565 [GRCh38] Chr1:78098250 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.789C>A (p.Asp263Glu) | single nucleotide variant | Inborn genetic diseases [RCV003207577] | Chr1:77632566 [GRCh38] Chr1:78098251 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1429A>G (p.Ile477Val) | single nucleotide variant | Inborn genetic diseases [RCV003191224] | Chr1:77631926 [GRCh38] Chr1:78097611 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.250A>G (p.Arg84Gly) | single nucleotide variant | Inborn genetic diseases [RCV003178482] | Chr1:77633105 [GRCh38] Chr1:78098790 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.2356T>C (p.Tyr786His) | single nucleotide variant | Inborn genetic diseases [RCV003263116] | Chr1:77568442 [GRCh38] Chr1:78034127 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.320G>A (p.Arg107Lys) | single nucleotide variant | Inborn genetic diseases [RCV003385967] | Chr1:77633035 [GRCh38] Chr1:78098720 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.734C>T (p.Thr245Met) | single nucleotide variant | Inborn genetic diseases [RCV003363741] | Chr1:77632621 [GRCh38] Chr1:78098306 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1237A>G (p.Asn413Asp) | single nucleotide variant | Inborn genetic diseases [RCV003363948] | Chr1:77632118 [GRCh38] Chr1:78097803 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.1750C>T (p.Arg584Cys) | single nucleotide variant | Inborn genetic diseases [RCV003362436] | Chr1:77582021 [GRCh38] Chr1:78047706 [GRCh37] Chr1:1p31.1 |
uncertain significance |
NM_015534.6(ZZZ3):c.278A>G (p.Lys93Arg) | single nucleotide variant | Inborn genetic diseases [RCV003376940] | Chr1:77633077 [GRCh38] Chr1:78098762 [GRCh37] Chr1:1p31.1 |
uncertain significance |
GRCh37/hg19 1p31.1(chr1:78065699-78143108)x1 | copy number loss | not provided [RCV003483194] | Chr1:78065699..78143108 [GRCh37] Chr1:1p31.1 |
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. |
A009X17 |
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RH91759 |
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SHGC-79372 |
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RH119617 |
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SHGC-142743 |
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A009K06 |
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D1S1611 |
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SHGC-75026 |
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A008Z12 |
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SHGC-75041 |
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G32603 |
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G32941 |
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ZZZ3 |
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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 | 859 | 758 | 873 | 98 | 792 | 84 | 2425 | 373 | 958 | 218 | 821 | 1058 | 30 | 1 | 482 | 1512 | 4 | |
Low | 1580 | 2014 | 853 | 526 | 948 | 381 | 1931 | 1816 | 2776 | 201 | 639 | 555 | 145 | 722 | 1276 | 2 | 2 | |
Below cutoff | 219 | 211 | 8 |
RefSeq Acc Id: | ENST00000370798 ⟹ ENSP00000359834 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000370801 ⟹ ENSP00000359837 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000414381 ⟹ ENSP00000392408 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000433749 ⟹ ENSP00000393779 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000458763 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000463166 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000469944 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000474746 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000476195 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000476275 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000481346 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001308237 ⟹ NP_001295166 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001376146 ⟹ NP_001363075 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001376147 ⟹ NP_001363076 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001376148 ⟹ NP_001363077 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001376149 ⟹ NP_001363078 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001376151 ⟹ NP_001363080 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001376153 ⟹ NP_001363082 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001376154 ⟹ NP_001363083 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001376155 ⟹ NP_001363084 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001376156 ⟹ NP_001363085 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_015534 ⟹ NP_056349 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_164775 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_164776 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NR_164777 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005270729 ⟹ XP_005270786 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_047417325 ⟹ XP_047273281 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047417326 ⟹ XP_047273282 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047417329 ⟹ XP_047273285 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047417333 ⟹ XP_047273289 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047417337 ⟹ XP_047273293 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047417341 ⟹ XP_047273297 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047417342 ⟹ XP_047273298 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054335867 ⟹ XP_054191842 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054335868 ⟹ XP_054191843 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054335869 ⟹ XP_054191844 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054335870 ⟹ XP_054191845 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054335871 ⟹ XP_054191846 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054335872 ⟹ XP_054191847 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054335873 ⟹ XP_054191848 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054335874 ⟹ XP_054191849 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NP_056349 ⟸ NM_015534 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8TEK4 (UniProtKB/Swiss-Prot), Q8IYR1 (UniProtKB/Swiss-Prot), Q8IYP0 (UniProtKB/Swiss-Prot), Q6N070 (UniProtKB/Swiss-Prot), Q6N004 (UniProtKB/Swiss-Prot), B7WPC6 (UniProtKB/Swiss-Prot), Q9Y4U0 (UniProtKB/Swiss-Prot), Q8IYH5 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_005270786 ⟸ XM_005270729 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q8IYH5 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001295166 ⟸ NM_001308237 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q8IYH5 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001363080 ⟸ NM_001376151 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001363078 ⟸ NM_001376149 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001363076 ⟸ NM_001376147 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8TEK4 (UniProtKB/Swiss-Prot), Q8IYR1 (UniProtKB/Swiss-Prot), Q8IYP0 (UniProtKB/Swiss-Prot), Q8IYH5 (UniProtKB/Swiss-Prot), Q6N070 (UniProtKB/Swiss-Prot), Q6N004 (UniProtKB/Swiss-Prot), B7WPC6 (UniProtKB/Swiss-Prot), Q9Y4U0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001363085 ⟸ NM_001376156 |
- Peptide Label: | isoform 4 |
RefSeq Acc Id: | NP_001363077 ⟸ NM_001376148 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001363075 ⟸ NM_001376146 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q8TEK4 (UniProtKB/Swiss-Prot), Q8IYR1 (UniProtKB/Swiss-Prot), Q8IYP0 (UniProtKB/Swiss-Prot), Q8IYH5 (UniProtKB/Swiss-Prot), Q6N070 (UniProtKB/Swiss-Prot), Q6N004 (UniProtKB/Swiss-Prot), B7WPC6 (UniProtKB/Swiss-Prot), Q9Y4U0 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001363082 ⟸ NM_001376153 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | NP_001363084 ⟸ NM_001376155 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | NP_001363083 ⟸ NM_001376154 |
- Peptide Label: | isoform 3 |
RefSeq Acc Id: | ENSP00000359834 ⟸ ENST00000370798 |
RefSeq Acc Id: | ENSP00000359837 ⟸ ENST00000370801 |
RefSeq Acc Id: | ENSP00000392408 ⟸ ENST00000414381 |
RefSeq Acc Id: | ENSP00000393779 ⟸ ENST00000433749 |
RefSeq Acc Id: | XP_047273297 ⟸ XM_047417341 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047273298 ⟸ XM_047417342 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047273289 ⟸ XM_047417333 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047273293 ⟸ XM_047417337 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047273282 ⟸ XM_047417326 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047273285 ⟸ XM_047417329 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047273281 ⟸ XM_047417325 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054191848 ⟸ XM_054335873 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054191843 ⟸ XM_054335868 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054191849 ⟸ XM_054335874 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054191846 ⟸ XM_054335871 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054191847 ⟸ XM_054335872 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_054191844 ⟸ XM_054335869 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054191845 ⟸ XM_054335870 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_054191842 ⟸ XM_054335867 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8IYH5-F1-model_v2 | AlphaFold | Q8IYH5 | 1-903 | view protein structure |
RGD ID: | 6855946 | ||||||||
Promoter ID: | EPDNEW_H1138 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | ZZZ3_2 | ||||||||
Description: | zinc finger ZZ-type containing 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H1139 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6855948 | ||||||||
Promoter ID: | EPDNEW_H1139 | ||||||||
Type: | initiation region | ||||||||
Name: | ZZZ3_1 | ||||||||
Description: | zinc finger ZZ-type containing 3 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H1138 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6787297 | ||||||||
Promoter ID: | HG_KWN:3332 | ||||||||
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: | OTTHUMT00000026615, OTTHUMT00000096383, OTTHUMT00000318338, OTTHUMT00000318340, UC009WBZ.1 | ||||||||
Position: |
|
RGD ID: | 6787296 | ||||||||
Promoter ID: | HG_KWN:3333 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, Jurkat, K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000096382, OTTHUMT00000318339, UC001DHR.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:24523 | AgrOrtholog |
COSMIC | ZZZ3 | COSMIC |
Ensembl Genes | ENSG00000036549 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000370798 | ENTREZGENE |
ENST00000370798.5 | UniProtKB/Swiss-Prot | |
ENST00000370801 | ENTREZGENE | |
ENST00000370801.8 | UniProtKB/Swiss-Prot | |
ENST00000414381.5 | UniProtKB/TrEMBL | |
ENST00000433749.5 | UniProtKB/TrEMBL | |
ENST00000481346 | ENTREZGENE | |
Gene3D-CATH | 3.30.60.90 | UniProtKB/Swiss-Prot |
Homeodomain-like | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000036549 | GTEx |
HGNC ID | HGNC:24523 | ENTREZGENE |
Human Proteome Map | ZZZ3 | Human Proteome Map |
InterPro | Homeobox-like_sf | UniProtKB/Swiss-Prot |
Myb_dom | UniProtKB/Swiss-Prot | |
SANT/Myb | UniProtKB/Swiss-Prot | |
Znf_ZZ | UniProtKB/Swiss-Prot | |
Znf_ZZ_sf | UniProtKB/Swiss-Prot | |
ZZZ3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ZZZ3_ZZ | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:26009 | UniProtKB/Swiss-Prot |
NCBI Gene | 26009 | ENTREZGENE |
OMIM | 619892 | OMIM |
PANTHER | PTHR22705 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ZZ-TYPE ZINC FINGER-CONTAINING PROTEIN 3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Myb_DNA-binding | UniProtKB/Swiss-Prot |
PF00569 | UniProtKB/Swiss-Prot | |
PharmGKB | PA134873184 | PharmGKB |
PROSITE | HTH_MYB | UniProtKB/Swiss-Prot |
ZF_ZZ_1 | UniProtKB/Swiss-Prot | |
ZF_ZZ_2 | UniProtKB/Swiss-Prot | |
SMART | SANT | UniProtKB/Swiss-Prot |
Superfamily-SCOP | RING/U-box | UniProtKB/Swiss-Prot |
SSF46689 | UniProtKB/Swiss-Prot | |
UniProt | B7WPC6 | ENTREZGENE |
C9J283_HUMAN | UniProtKB/TrEMBL | |
C9JUA4_HUMAN | UniProtKB/TrEMBL | |
Q6N004 | ENTREZGENE | |
Q6N070 | ENTREZGENE | |
Q8IYH5 | ENTREZGENE | |
Q8IYP0 | ENTREZGENE | |
Q8IYR1 | ENTREZGENE | |
Q8TEK4 | ENTREZGENE | |
Q9Y4U0 | ENTREZGENE | |
ZZZ3_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B7WPC6 | UniProtKB/Swiss-Prot |
Q6N004 | UniProtKB/Swiss-Prot | |
Q6N070 | UniProtKB/Swiss-Prot | |
Q8IYP0 | UniProtKB/Swiss-Prot | |
Q8IYR1 | UniProtKB/Swiss-Prot | |
Q8TEK4 | UniProtKB/Swiss-Prot | |
Q9Y4U0 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-02-16 | ZZZ3 | zinc finger ZZ-type containing 3 | zinc finger, ZZ-type containing 3 | Symbol and/or name change | 5135510 | APPROVED |