ZZZ3 (zinc finger ZZ-type containing 3) - Rat Genome Database

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Gene: ZZZ3 (zinc finger ZZ-type containing 3) Homo sapiens
Analyze
Symbol: ZZZ3
Name: zinc finger ZZ-type containing 3
RGD ID: 1351388
HGNC Page HGNC:24523
Description: Enables histone reader activity; lysine-acetylated histone binding activity; and methylated histone binding activity. Involved in several processes, including regulation of cell division; regulation of transcription by RNA polymerase II; and regulation of tubulin deacetylation. Located in ATAC complex; nucleolus; and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ATAC component 1 homolog; ATAC1; DKFZp313N0119; DKFZp564I052; FLJ10362; zinc finger, ZZ domain containing 3; zinc finger, ZZ-type containing 3; ZZ-type zinc finger-containing protein 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,562,416 - 77,683,398 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,562,416 - 77,683,419 (-)EnsemblGRCh38hg38GRCh38
GRCh37178,028,101 - 78,149,083 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,802,776 - 77,920,931 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,742,210 - 77,860,364NCBI
Celera176,269,714 - 76,387,851 (-)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef176,161,995 - 76,280,107 (-)NCBIHuRef
CHM1_1178,146,076 - 78,264,208 (-)NCBICHM1_1
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
ATAC complex  (IDA,IEA,ISO)
mitotic spindle  (NAS)
nucleolus  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IEA)
SAGA-type complex  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# 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.
Additional References at PubMed
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  


Genomics

Comparative Map Data
ZZZ3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,562,416 - 77,683,398 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,562,416 - 77,683,419 (-)EnsemblGRCh38hg38GRCh38
GRCh37178,028,101 - 78,149,083 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,802,776 - 77,920,931 (-)NCBINCBI36Build 36hg18NCBI36
Build 34177,742,210 - 77,860,364NCBI
Celera176,269,714 - 76,387,851 (-)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef176,161,995 - 76,280,107 (-)NCBIHuRef
CHM1_1178,146,076 - 78,264,208 (-)NCBICHM1_1
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBIT2T-CHM13v2.0
Zzz3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393152,101,110 - 152,168,463 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3152,101,110 - 152,168,463 (+)EnsemblGRCm39 Ensembl
GRCm383152,395,473 - 152,462,826 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3152,395,473 - 152,462,826 (+)EnsemblGRCm38mm10GRCm38
MGSCv373152,058,974 - 152,125,790 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363152,334,080 - 152,396,863 (+)NCBIMGSCv36mm8
Celera3158,880,965 - 158,931,207 (+)NCBICelera
Cytogenetic Map3H3NCBI
cM Map377.16NCBI
Zzz3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82243,990,305 - 244,057,251 (+)NCBIGRCr8
mRatBN7.22241,330,366 - 241,397,308 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2241,331,022 - 241,397,307 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2249,172,487 - 249,209,719 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02247,059,500 - 247,096,732 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02241,959,040 - 241,996,286 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02257,602,924 - 257,671,783 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2257,626,383 - 257,670,650 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02276,281,516 - 276,349,781 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42250,951,712 - 250,952,232 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2233,291,456 - 233,328,678 (+)NCBICelera
Cytogenetic Map2q45NCBI
Zzz3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542315,523,522 - 15,583,742 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542315,523,859 - 15,583,742 (+)NCBIChiLan1.0ChiLan1.0
ZZZ3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21149,203,171 - 149,325,014 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11148,368,476 - 148,487,789 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0176,783,387 - 76,902,711 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1178,866,118 - 78,986,872 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl178,866,284 - 78,986,872 (-)Ensemblpanpan1.1panPan2
ZZZ3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1669,180,465 - 69,278,740 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl669,180,349 - 69,277,596 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha671,838,616 - 71,941,048 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0669,766,826 - 69,869,370 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl669,767,108 - 69,865,049 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1669,272,914 - 69,374,099 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0669,217,992 - 69,320,218 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0669,703,912 - 69,806,205 (+)NCBIUU_Cfam_GSD_1.0
Zzz3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505888,880,687 - 89,015,109 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365714,423,662 - 4,524,926 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365714,391,318 - 4,525,720 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZZZ3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6135,606,192 - 135,741,487 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16135,605,712 - 135,746,019 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26125,811,359 - 125,945,360 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZZZ3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12055,493,316 - 55,613,263 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2055,537,143 - 55,612,122 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603361,902,516 - 62,026,654 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zzz3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474219,562,574 - 19,625,049 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474219,515,291 - 19,630,055 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZZZ3
48 total Variants

Clinical 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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1515
Count of miRNA genes:808
Interacting mature miRNAs:927
Transcripts:ENST00000370798, ENST00000370801, ENST00000414381, ENST00000433749, ENST00000458763, ENST00000463166, ENST00000469944, ENST00000474746, ENST00000476195, ENST00000476275, ENST00000481346
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.

Markers in Region
A009X17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,028,412 - 78,028,588UniSTSGRCh37
Build 36177,801,000 - 77,801,176RGDNCBI36
Celera176,267,936 - 76,268,112RGD
Cytogenetic Map1p31.1UniSTS
HuRef176,160,217 - 76,160,393UniSTS
GeneMap99-GB4 RH Map1209.08UniSTS
RH91759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,093,685 - 78,093,840UniSTSGRCh37
Build 36177,866,273 - 77,866,428RGDNCBI36
Celera176,333,192 - 76,333,347RGD
Cytogenetic Map1p31.1UniSTS
HuRef176,225,452 - 76,225,607UniSTS
GeneMap99-GB4 RH Map1209.08UniSTS
SHGC-79372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,061,109 - 78,061,403UniSTSGRCh37
Build 36177,833,697 - 77,833,991RGDNCBI36
Celera176,300,615 - 76,300,909RGD
Cytogenetic Map1p31.1UniSTS
HuRef176,192,895 - 76,193,189UniSTS
TNG Radiation Hybrid Map123998.0UniSTS
RH119617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,081,837 - 78,082,142UniSTSGRCh37
Build 36177,854,425 - 77,854,730RGDNCBI36
Celera176,321,345 - 76,321,650RGD
Cytogenetic Map1p31.1UniSTS
HuRef176,213,628 - 76,213,933UniSTS
TNG Radiation Hybrid Map123998.0UniSTS
SHGC-142743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,028,998 - 78,029,311UniSTSGRCh37
Build 36177,801,586 - 77,801,899RGDNCBI36
Celera176,268,522 - 76,268,835RGD
Cytogenetic Map1p31.1UniSTS
HuRef176,160,803 - 76,161,116UniSTS
TNG Radiation Hybrid Map124011.0UniSTS
A009K06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,094,424 - 78,094,526UniSTSGRCh37
Build 36177,867,012 - 77,867,114RGDNCBI36
Celera176,333,931 - 76,334,033RGD
Cytogenetic Map1p31.1UniSTS
HuRef176,226,191 - 76,226,293UniSTS
GeneMap99-GB4 RH Map1209.19UniSTS
NCBI RH Map1518.0UniSTS
D1S1611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,086,117 - 78,086,342UniSTSGRCh37
Build 36177,858,705 - 77,858,930RGDNCBI36
Celera176,325,623 - 76,325,848RGD
Cytogenetic Map1p31.1UniSTS
HuRef176,217,907 - 76,218,124UniSTS
Marshfield Genetic Map1104.79UniSTS
deCODE Assembly Map1103.23UniSTS
SHGC-75026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,041,859 - 78,042,011UniSTSGRCh37
Build 36177,814,447 - 77,814,599RGDNCBI36
Celera176,281,377 - 76,281,529RGD
Cytogenetic Map1p31.1UniSTS
HuRef176,173,655 - 76,173,807UniSTS
TNG Radiation Hybrid Map124007.0UniSTS
GeneMap99-GB4 RH Map1192.38UniSTS
A008Z12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,029,261 - 78,029,364UniSTSGRCh37
Build 36177,801,849 - 77,801,952RGDNCBI36
Celera176,268,785 - 76,268,888RGD
Cytogenetic Map1p31.1UniSTS
HuRef176,161,066 - 76,161,169UniSTS
GeneMap99-GB4 RH Map1191.36UniSTS
SHGC-75041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,028,393 - 78,028,541UniSTSGRCh37
Build 36177,800,981 - 77,801,129RGDNCBI36
Celera176,267,917 - 76,268,065RGD
Cytogenetic Map1p31.1UniSTS
HuRef176,160,198 - 76,160,346UniSTS
TNG Radiation Hybrid Map124007.0UniSTS
GeneMap99-GB4 RH Map1209.08UniSTS
NCBI RH Map1518.0UniSTS
G32603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,094,424 - 78,094,526UniSTSGRCh37
Celera176,333,931 - 76,334,033UniSTS
Cytogenetic Map1p31.1UniSTS
HuRef176,226,191 - 76,226,293UniSTS
G32941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,028,412 - 78,028,588UniSTSGRCh37
Celera176,267,936 - 76,268,112UniSTS
Cytogenetic Map1p31.1UniSTS
HuRef176,160,217 - 76,160,393UniSTS
ZZZ3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,030,579 - 78,030,691UniSTSGRCh37
Celera176,270,103 - 76,270,215UniSTS
HuRef176,162,384 - 76,162,496UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC118549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA448091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA722345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM256449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000370798   ⟹   ENSP00000359834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,564,888 - 77,683,419 (-)Ensembl
RefSeq Acc Id: ENST00000370801   ⟹   ENSP00000359837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,562,416 - 77,682,658 (-)Ensembl
RefSeq Acc Id: ENST00000414381   ⟹   ENSP00000392408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,633,246 - 77,683,374 (-)Ensembl
RefSeq Acc Id: ENST00000433749   ⟹   ENSP00000393779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,633,182 - 77,682,675 (-)Ensembl
RefSeq Acc Id: ENST00000458763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,676,982 - 77,682,675 (-)Ensembl
RefSeq Acc Id: ENST00000463166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,633,312 - 77,683,403 (-)Ensembl
RefSeq Acc Id: ENST00000469944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,640,954 - 77,682,643 (-)Ensembl
RefSeq Acc Id: ENST00000474746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,581,818 - 77,585,059 (-)Ensembl
RefSeq Acc Id: ENST00000476195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,581,018 - 77,585,043 (-)Ensembl
RefSeq Acc Id: ENST00000476275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,564,506 - 77,632,876 (-)Ensembl
RefSeq Acc Id: ENST00000481346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,562,416 - 77,631,921 (-)Ensembl
RefSeq Acc Id: NM_001308237   ⟹   NP_001295166
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,683,398 (-)NCBI
CHM1_1178,143,987 - 78,264,968 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376146   ⟹   NP_001363075
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,683,398 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376147   ⟹   NP_001363076
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,683,398 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376148   ⟹   NP_001363077
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,683,398 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376149   ⟹   NP_001363078
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,683,398 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376151   ⟹   NP_001363080
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,683,398 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376153   ⟹   NP_001363082
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,682,658 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,521,488 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376154   ⟹   NP_001363083
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,682,658 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,521,488 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376155   ⟹   NP_001363084
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,682,658 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,521,488 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376156   ⟹   NP_001363085
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,683,398 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015534   ⟹   NP_056349
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,682,658 (-)NCBI
GRCh37178,028,160 - 78,149,119 (-)NCBI
Build 36177,802,776 - 77,920,931 (-)NCBI Archive
Celera176,269,714 - 76,387,851 (-)RGD
HuRef176,161,995 - 76,280,107 (-)ENTREZGENE
CHM1_1178,143,987 - 78,264,208 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,521,488 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164775
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,683,398 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164776
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,682,658 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,521,488 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164777
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,682,658 (-)NCBI
T2T-CHM13v2.0177,401,275 - 77,521,488 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005270729   ⟹   XP_005270786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,683,398 (-)NCBI
GRCh37178,028,160 - 78,149,119 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417325   ⟹   XP_047273281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,584,536 - 77,633,405 (-)NCBI
RefSeq Acc Id: XM_047417326   ⟹   XP_047273282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,657,015 (-)NCBI
RefSeq Acc Id: XM_047417329   ⟹   XP_047273285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,645,772 (-)NCBI
RefSeq Acc Id: XM_047417333   ⟹   XP_047273289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,682,658 (-)NCBI
RefSeq Acc Id: XM_047417337   ⟹   XP_047273293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,682,658 (-)NCBI
RefSeq Acc Id: XM_047417341   ⟹   XP_047273297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,683,398 (-)NCBI
RefSeq Acc Id: XM_047417342   ⟹   XP_047273298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,562,416 - 77,682,658 (-)NCBI
RefSeq Acc Id: XM_054335867   ⟹   XP_054191842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,423,376 - 77,472,236 (-)NCBI
RefSeq Acc Id: XM_054335868   ⟹   XP_054191843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBI
RefSeq Acc Id: XM_054335869   ⟹   XP_054191844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,401,275 - 77,495,844 (-)NCBI
RefSeq Acc Id: XM_054335870   ⟹   XP_054191845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,401,275 - 77,484,601 (-)NCBI
RefSeq Acc Id: XM_054335871   ⟹   XP_054191846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,401,275 - 77,521,488 (-)NCBI
RefSeq Acc Id: XM_054335872   ⟹   XP_054191847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,401,275 - 77,521,488 (-)NCBI
RefSeq Acc Id: XM_054335873   ⟹   XP_054191848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,401,275 - 77,522,228 (-)NCBI
RefSeq Acc Id: XM_054335874   ⟹   XP_054191849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0177,401,275 - 77,521,488 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001295166 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363075 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363076 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363077 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363078 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363080 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363082 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363083 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363084 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363085 (Get FASTA)   NCBI Sequence Viewer  
  NP_056349 (Get FASTA)   NCBI Sequence Viewer  
  XP_005270786 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273281 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273282 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273285 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273289 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273293 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273297 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273298 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191842 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191843 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191844 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191845 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191846 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191847 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191848 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191849 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH35079 (Get FASTA)   NCBI Sequence Viewer  
  AAH35397 (Get FASTA)   NCBI Sequence Viewer  
  AAH35818 (Get FASTA)   NCBI Sequence Viewer  
  BAB84945 (Get FASTA)   NCBI Sequence Viewer  
  CAB45694 (Get FASTA)   NCBI Sequence Viewer  
  CAE45800 (Get FASTA)   NCBI Sequence Viewer  
  CAE45870 (Get FASTA)   NCBI Sequence Viewer  
  CAE46004 (Get FASTA)   NCBI Sequence Viewer  
  EAX06372 (Get FASTA)   NCBI Sequence Viewer  
  EAX06373 (Get FASTA)   NCBI Sequence Viewer  
  EAX06374 (Get FASTA)   NCBI Sequence Viewer  
  EAX06375 (Get FASTA)   NCBI Sequence Viewer  
  EAX06376 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000359834
  ENSP00000359834.1
  ENSP00000359837
  ENSP00000359837.3
  ENSP00000392408.1
  ENSP00000393779.1
GenBank Protein Q8IYH5 (Get FASTA)   NCBI Sequence Viewer  
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
Protein Domains
HTH myb-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IYH5-F1-model_v2 AlphaFold Q8IYH5 1-903 view protein structure

Promoters
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:
Human AssemblyChrPosition (strand)Source
GRCh38177,682,658 - 77,682,718EPDNEW
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:
Human AssemblyChrPosition (strand)Source
GRCh38177,683,398 - 77,683,458EPDNEW
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:
Human AssemblyChrPosition (strand)Source
Build 36177,920,761 - 77,921,932 (-)MPROMDB
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:
Human AssemblyChrPosition (strand)Source
Build 36177,921,364 - 77,921,864 (-)MPROMDB

Additional Information

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


Nomenclature History
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