ZSCAN30 (zinc finger and SCAN domain containing 30) - Rat Genome Database

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Gene: ZSCAN30 (zinc finger and SCAN domain containing 30) Homo sapiens
Analyze
Symbol: ZSCAN30
Name: zinc finger and SCAN domain containing 30
RGD ID: 2290512
HGNC Page HGNC:33517
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ16245; FLJ46864; zinc finger and SCAN domain-containing protein 30; zinc finger protein 397 opposite strand; zinc finger protein 397OS; ZNF-WYM; ZNF397 opposite strand; ZNF397OS; ZNF917
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381835,251,062 - 35,290,229 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1835,251,058 - 35,290,245 (-)EnsemblGRCh38hg38GRCh38
GRCh371832,831,026 - 32,870,193 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361831,084,629 - 31,124,191 (-)NCBINCBI36Build 36hg18NCBI36
Celera1829,638,924 - 29,678,100 (-)NCBICelera
Cytogenetic Map18q12.2NCBI
HuRef1829,690,031 - 29,729,813 (-)NCBIHuRef
CHM1_11832,758,008 - 32,797,171 (-)NCBICHM1_1
T2T-CHM13v2.01835,442,347 - 35,481,602 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12107413   PMID:12801647   PMID:14702039   PMID:16344560   PMID:18029348   PMID:21873635   PMID:26186194   PMID:28514442   PMID:29892012   PMID:30021884   PMID:30804502   PMID:32296183  
PMID:33961781  


Genomics

Comparative Map Data
ZSCAN30
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381835,251,062 - 35,290,229 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1835,251,058 - 35,290,245 (-)EnsemblGRCh38hg38GRCh38
GRCh371832,831,026 - 32,870,193 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361831,084,629 - 31,124,191 (-)NCBINCBI36Build 36hg18NCBI36
Celera1829,638,924 - 29,678,100 (-)NCBICelera
Cytogenetic Map18q12.2NCBI
HuRef1829,690,031 - 29,729,813 (-)NCBIHuRef
CHM1_11832,758,008 - 32,797,171 (-)NCBICHM1_1
T2T-CHM13v2.01835,442,347 - 35,481,602 (-)NCBIT2T-CHM13v2.0
Zscan30
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391824,065,597 - 24,120,362 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1824,097,875 - 24,104,844 (-)EnsemblGRCm39 Ensembl
GRCm381823,932,591 - 23,987,305 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1823,964,818 - 23,987,226 (-)EnsemblGRCm38mm10GRCm38
MGSCv371824,129,476 - 24,140,056 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361824,110,237 - 24,114,799 (-)NCBIMGSCv36mm8
Celera1824,461,048 - 24,471,627 (-)NCBICelera
Cytogenetic Map18A2NCBI
cM Map1812.47NCBI
Zscan30
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81815,524,313 - 15,540,983 (-)NCBIGRCr8
mRatBN7.21815,245,140 - 15,266,204 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1815,244,379 - 15,264,632 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1815,434,671 - 15,451,334 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01816,217,375 - 16,234,038 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01815,507,113 - 15,523,776 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01815,866,470 - 15,880,569 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1815,868,068 - 15,873,793 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.01815,633,119 - 15,646,180 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41815,734,841 - 15,740,323 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11815,761,405 - 15,766,969 (-)NCBI
Celera1815,199,908 - 15,214,437 (-)NCBICelera
Cytogenetic Map18p12NCBI
ZSCAN30
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21752,640,018 - 52,679,502 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11838,331,190 - 38,372,125 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01828,469,523 - 28,509,063 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11832,058,375 - 32,097,883 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1832,058,375 - 32,074,965 (-)Ensemblpanpan1.1panPan2
ZSCAN30
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1754,741,734 - 54,748,122 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl754,742,067 - 54,746,668 (+)EnsemblCanFam3.1canFam3CanFam3.1
Zscan30
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494450,460,608 - 50,475,816 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365179,787,933 - 9,803,224 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365179,788,240 - 9,802,619 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZSCAN30
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6119,090,495 - 119,116,270 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16119,088,184 - 119,116,257 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26111,405,593 - 111,431,217 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZSCAN30
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11845,475,194 - 45,615,750 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1845,497,362 - 45,508,287 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605019,977,945 - 20,013,372 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Zscan30
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247799,680,315 - 9,686,601 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247799,678,549 - 9,708,490 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZSCAN30
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3 copy number gain See cases [RCV000050773] Chr18:31655749..42564094 [GRCh38]
Chr18:29235712..40144059 [GRCh37]
Chr18:27489710..38398057 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1 copy number loss See cases [RCV000051090] Chr18:29444510..40403652 [GRCh38]
Chr18:27024475..37983616 [GRCh37]
Chr18:25278473..36237614 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18q12.1-12.2(chr18:35097761-39379288)x3 copy number gain See cases [RCV000052567] Chr18:35097761..39379288 [GRCh38]
Chr18:32677725..36959252 [GRCh37]
Chr18:30931723..35213250 [NCBI36]
Chr18:18q12.1-12.2		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1 copy number loss See cases [RCV000053829] Chr18:32111530..44070219 [GRCh38]
Chr18:29691493..41650184 [GRCh37]
Chr18:27945491..39904182 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1 copy number loss See cases [RCV000053830] Chr18:34047118..41394354 [GRCh38]
Chr18:31627082..38974318 [GRCh37]
Chr18:29881080..37228316 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1 copy number loss See cases [RCV000138295] Chr18:33373798..37364748 [GRCh38]
Chr18:30953762..34944711 [GRCh37]
Chr18:29207760..33198709 [NCBI36]
Chr18:18q12.1-12.2		 likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3 copy number gain See cases [RCV000142226] Chr18:20941324..40360620 [GRCh38]
Chr18:18521285..37940584 [GRCh37]
Chr18:16775283..36194582 [NCBI36]
Chr18:18q11.1-12.3		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18q12.1-12.2(chr18:34454080-35755377)x3 copy number gain See cases [RCV000142876] Chr18:34454080..35755377 [GRCh38]
Chr18:32034044..33335341 [GRCh37]
Chr18:30288042..31589339 [NCBI36]
Chr18:18q12.1-12.2		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1 copy number loss See cases [RCV000510691] Chr18:20069932..36887326 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18q12.1-12.2(chr18:30368042-36078516)x1 copy number loss See cases [RCV000511858] Chr18:30368042..36078516 [GRCh37]
Chr18:18q12.1-12.2		 likely pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001112734.4(ZSCAN30):c.61G>A (p.Val21Ile) single nucleotide variant not specified [RCV004308672] Chr18:35264292 [GRCh38]
Chr18:32844256 [GRCh37]
Chr18:18q12.2		 likely benign
NM_001112734.4(ZSCAN30):c.1367T>G (p.Leu456Arg) single nucleotide variant not specified [RCV004315974] Chr18:35253568 [GRCh38]
Chr18:32833532 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.935A>G (p.Gln312Arg) single nucleotide variant not specified [RCV004288636] Chr18:35254000 [GRCh38]
Chr18:32833964 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.869C>G (p.Thr290Arg) single nucleotide variant not specified [RCV004297208] Chr18:35254066 [GRCh38]
Chr18:32834030 [GRCh37]
Chr18:18q12.2		 uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q12.1-12.2(chr18:29711972-35866193)x1 copy number loss not provided [RCV000684043] Chr18:29711972..35866193 [GRCh37]
Chr18:18q12.1-12.2		 pathogenic
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1 copy number loss not provided [RCV001006964] Chr18:22868759..34335753 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_001112734.4(ZSCAN30):c.1268G>A (p.Gly423Asp) single nucleotide variant not specified [RCV004297828] Chr18:35253667 [GRCh38]
Chr18:32833631 [GRCh37]
Chr18:18q12.2		 uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1 copy number loss See cases [RCV001263022] Chr18:23971647..33737300 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001112734.4(ZSCAN30):c.1030C>T (p.Leu344Phe) single nucleotide variant not specified [RCV004128559] Chr18:35253905 [GRCh38]
Chr18:32833869 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1127G>A (p.Arg376Gln) single nucleotide variant not specified [RCV004240499] Chr18:35253808 [GRCh38]
Chr18:32833772 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.143G>A (p.Arg48Gln) single nucleotide variant not specified [RCV004230069] Chr18:35264210 [GRCh38]
Chr18:32844174 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1301T>C (p.Ile434Thr) single nucleotide variant not specified [RCV004219273] Chr18:35253634 [GRCh38]
Chr18:32833598 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.564G>T (p.Met188Ile) single nucleotide variant not specified [RCV004213274] Chr18:35254371 [GRCh38]
Chr18:32834335 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.842G>T (p.Ser281Ile) single nucleotide variant not specified [RCV004129321] Chr18:35254093 [GRCh38]
Chr18:32834057 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.333T>G (p.His111Gln) single nucleotide variant not specified [RCV004205235] Chr18:35264020 [GRCh38]
Chr18:32843984 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1187G>A (p.Arg396Gln) single nucleotide variant not specified [RCV004156134] Chr18:35253748 [GRCh38]
Chr18:32833712 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.322C>G (p.Leu108Val) single nucleotide variant not specified [RCV004193495] Chr18:35264031 [GRCh38]
Chr18:32843995 [GRCh37]
Chr18:18q12.2		 likely benign
NM_001112734.4(ZSCAN30):c.365T>C (p.Met122Thr) single nucleotide variant not specified [RCV004181913] Chr18:35263988 [GRCh38]
Chr18:32843952 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1385T>A (p.Ile462Asn) single nucleotide variant not specified [RCV004151379] Chr18:35253550 [GRCh38]
Chr18:32833514 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.625A>G (p.Met209Val) single nucleotide variant not specified [RCV004088427] Chr18:35254310 [GRCh38]
Chr18:32834274 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.76G>A (p.Glu26Lys) single nucleotide variant not specified [RCV004324191] Chr18:35264277 [GRCh38]
Chr18:32844241 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.154A>G (p.Arg52Gly) single nucleotide variant not specified [RCV004267197] Chr18:35264199 [GRCh38]
Chr18:32844163 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1343A>T (p.Lys448Ile) single nucleotide variant not specified [RCV004363645] Chr18:35253592 [GRCh38]
Chr18:32833556 [GRCh37]
Chr18:18q12.2		 uncertain significance
GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1 copy number loss not provided [RCV003483335] Chr18:26595964..38643072 [GRCh37]
Chr18:18q12.1-12.3		 pathogenic
NM_001112734.4(ZSCAN30):c.1238A>G (p.Tyr413Cys) single nucleotide variant not specified [RCV004487790] Chr18:35253697 [GRCh38]
Chr18:32833661 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1356G>C (p.Gln452His) single nucleotide variant not specified [RCV004487792] Chr18:35253579 [GRCh38]
Chr18:32833543 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.335G>A (p.Arg112Gln) single nucleotide variant not specified [RCV004487795] Chr18:35264018 [GRCh38]
Chr18:32843982 [GRCh37]
Chr18:18q12.2		 likely benign
NM_001112734.4(ZSCAN30):c.1069T>G (p.Tyr357Asp) single nucleotide variant not specified [RCV004487789] Chr18:35253866 [GRCh38]
Chr18:32833830 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1264T>G (p.Phe422Val) single nucleotide variant not specified [RCV004487791] Chr18:35253671 [GRCh38]
Chr18:32833635 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.209G>A (p.Arg70Gln) single nucleotide variant not specified [RCV004487793] Chr18:35264144 [GRCh38]
Chr18:32844108 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.221G>A (p.Cys74Tyr) single nucleotide variant not specified [RCV004487794] Chr18:35264132 [GRCh38]
Chr18:32844096 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.416C>T (p.Thr139Ile) single nucleotide variant not specified [RCV004603863] Chr18:35263650 [GRCh38]
Chr18:32843614 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.832A>T (p.Ser278Cys) single nucleotide variant not specified [RCV004603862] Chr18:35254103 [GRCh38]
Chr18:32834067 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.488C>T (p.Pro163Leu) single nucleotide variant not specified [RCV004603864] Chr18:35263578 [GRCh38]
Chr18:32843542 [GRCh37]
Chr18:18q12.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4608
Count of miRNA genes:1216
Interacting mature miRNAs:1533
Transcripts:ENST00000333206, ENST00000383091, ENST00000420878, ENST00000588448, ENST00000588832, ENST00000589178, ENST00000590777, ENST00000592211, ENST00000592278, ENST00000592598, ENST00000601405
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407324591GWAS973567_Hmathematical ability QTL GWAS973567 (human)4e-11mathematical ability183529005135290052Human
407186955GWAS835931_Hwaist-hip ratio QTL GWAS835931 (human)0.000009waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)183528195835281959Human

Markers in Region
RH94316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,842,688 - 32,842,812UniSTSGRCh37
Build 361831,096,686 - 31,096,810RGDNCBI36
Celera1829,650,588 - 29,650,712RGD
Cytogenetic Map18q12.2UniSTS
HuRef1829,701,697 - 29,701,821UniSTS
RH16480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,832,084 - 32,832,265UniSTSGRCh37
Build 361831,086,082 - 31,086,263RGDNCBI36
Celera1829,639,985 - 29,640,166RGD
Cytogenetic Map18q12.2UniSTS
HuRef1829,691,092 - 29,691,273UniSTS
RH78807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,831,207 - 32,831,291UniSTSGRCh37
Build 361831,085,205 - 31,085,289RGDNCBI36
Celera1829,639,108 - 29,639,192RGD
Cytogenetic Map18q12.2UniSTS
HuRef1829,690,215 - 29,690,299UniSTS
SHGC-132945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,837,915 - 32,838,237UniSTSGRCh37
Build 361831,091,913 - 31,092,235RGDNCBI36
Celera1829,645,816 - 29,646,138RGD
Cytogenetic Map18q12.2UniSTS
HuRef1829,696,923 - 29,697,245UniSTS
TNG Radiation Hybrid Map1812141.0UniSTS
SHGC-34458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,831,970 - 32,832,119UniSTSGRCh37
Build 361831,085,968 - 31,086,117RGDNCBI36
Celera1829,639,871 - 29,640,020RGD
Cytogenetic Map18q12.2UniSTS
HuRef1829,690,978 - 29,691,127UniSTS
RH39232  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.2UniSTS
HuRef1829,701,765 - 29,701,893UniSTS
D11S1053  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map1p22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic MapXq13.2-q21.1UniSTS
Cytogenetic Map4pUniSTS
Cytogenetic Map6q12UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001112734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA988135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF303374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY234408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX116643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD676185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA653861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC409152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC414102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000333206   ⟹   ENSP00000329738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,251,062 - 35,290,229 (-)Ensembl
Ensembl Acc Id: ENST00000420878   ⟹   ENSP00000392371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,251,068 - 35,290,232 (-)Ensembl
Ensembl Acc Id: ENST00000588448   ⟹   ENSP00000470677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,263,296 - 35,264,046 (-)Ensembl
Ensembl Acc Id: ENST00000588832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,289,345 - 35,290,232 (-)Ensembl
Ensembl Acc Id: ENST00000589178   ⟹   ENSP00000465046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,260,643 - 35,290,197 (-)Ensembl
Ensembl Acc Id: ENST00000590777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,252,594 - 35,254,621 (-)Ensembl
Ensembl Acc Id: ENST00000592211   ⟹   ENSP00000467308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,264,210 - 35,290,229 (-)Ensembl
Ensembl Acc Id: ENST00000592278   ⟹   ENSP00000470443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,263,585 - 35,290,221 (-)Ensembl
Ensembl Acc Id: ENST00000592598   ⟹   ENSP00000468180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,264,146 - 35,267,948 (-)Ensembl
Ensembl Acc Id: ENST00000601405   ⟹   ENSP00000472179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,263,296 - 35,264,384 (-)Ensembl
Ensembl Acc Id: ENST00000610712   ⟹   ENSP00000480152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,251,058 - 35,290,245 (-)Ensembl
Ensembl Acc Id: ENST00000639929   ⟹   ENSP00000491237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,253,459 - 35,264,223 (-)Ensembl
RefSeq Acc Id: NM_001112734   ⟹   NP_001106205
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,251,062 - 35,290,229 (-)NCBI
GRCh371832,831,023 - 32,870,196 (-)RGD
GRCh371832,831,023 - 32,870,196 (-)NCBI
Celera1829,638,924 - 29,678,100 (-)RGD
HuRef1829,690,030 - 29,729,826 (-)NCBI
CHM1_11832,758,007 - 32,797,184 (-)NCBI
T2T-CHM13v2.01835,442,347 - 35,481,560 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166012   ⟹   NP_001159484
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,251,062 - 35,290,229 (-)NCBI
GRCh371832,831,023 - 32,870,196 (-)RGD
GRCh371832,831,023 - 32,870,196 (-)NCBI
Celera1829,638,924 - 29,678,100 (-)RGD
HuRef1829,690,030 - 29,729,826 (-)NCBI
CHM1_11832,758,007 - 32,797,184 (-)NCBI
T2T-CHM13v2.01835,442,347 - 35,481,560 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001288711   ⟹   NP_001275640
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,251,062 - 35,290,229 (-)NCBI
HuRef1829,690,030 - 29,729,826 (-)NCBI
CHM1_11832,758,007 - 32,797,184 (-)NCBI
T2T-CHM13v2.01835,442,347 - 35,481,560 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005258183   ⟹   XP_005258240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,251,062 - 35,290,229 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525789   ⟹   XP_011524091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,251,062 - 35,259,125 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437266   ⟹   XP_047293222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,251,062 - 35,290,229 (-)NCBI
RefSeq Acc Id: XM_047437267   ⟹   XP_047293223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,251,062 - 35,290,229 (-)NCBI
RefSeq Acc Id: XM_047437268   ⟹   XP_047293224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,259,028 - 35,290,229 (-)NCBI
RefSeq Acc Id: XM_054318139   ⟹   XP_054174114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,442,347 - 35,481,560 (-)NCBI
RefSeq Acc Id: XM_054318140   ⟹   XP_054174115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,442,347 - 35,481,602 (-)NCBI
RefSeq Acc Id: XM_054318141   ⟹   XP_054174116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,450,412 - 35,481,560 (-)NCBI
RefSeq Acc Id: XM_054318142   ⟹   XP_054174117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,442,347 - 35,450,409 (-)NCBI
RefSeq Acc Id: NP_001106205   ⟸   NM_001112734
- Peptide Label: isoform 1
- UniProtKB: Q6ZNB3 (UniProtKB/Swiss-Prot),   B4E0N0 (UniProtKB/Swiss-Prot),   Q96PN3 (UniProtKB/Swiss-Prot),   Q86W11 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001159484   ⟸   NM_001166012
- Peptide Label: isoform 1
- UniProtKB: Q6ZNB3 (UniProtKB/Swiss-Prot),   B4E0N0 (UniProtKB/Swiss-Prot),   Q96PN3 (UniProtKB/Swiss-Prot),   Q86W11 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005258240   ⟸   XM_005258183
- Peptide Label: isoform X2
- UniProtKB: Q6ZNB3 (UniProtKB/Swiss-Prot),   B4E0N0 (UniProtKB/Swiss-Prot),   Q96PN3 (UniProtKB/Swiss-Prot),   Q86W11 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001275640   ⟸   NM_001288711
- Peptide Label: isoform 2
- UniProtKB: A0A0C4DGV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524091   ⟸   XM_011525789
- Peptide Label: isoform X4
- UniProtKB: A0A0C4DGV0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000329738   ⟸   ENST00000333206
Ensembl Acc Id: ENSP00000480152   ⟸   ENST00000610712
Ensembl Acc Id: ENSP00000491237   ⟸   ENST00000639929
Ensembl Acc Id: ENSP00000470677   ⟸   ENST00000588448
Ensembl Acc Id: ENSP00000465046   ⟸   ENST00000589178
Ensembl Acc Id: ENSP00000472179   ⟸   ENST00000601405
Ensembl Acc Id: ENSP00000392371   ⟸   ENST00000420878
Ensembl Acc Id: ENSP00000468180   ⟸   ENST00000592598
Ensembl Acc Id: ENSP00000467308   ⟸   ENST00000592211
Ensembl Acc Id: ENSP00000470443   ⟸   ENST00000592278
RefSeq Acc Id: XP_047293223   ⟸   XM_047437267
- Peptide Label: isoform X2
- UniProtKB: Q86W11 (UniProtKB/Swiss-Prot),   Q6ZNB3 (UniProtKB/Swiss-Prot),   B4E0N0 (UniProtKB/Swiss-Prot),   Q96PN3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047293222   ⟸   XM_047437266
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293224   ⟸   XM_047437268
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174115   ⟸   XM_054318140
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174114   ⟸   XM_054318139
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174117   ⟸   XM_054318142
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054174116   ⟸   XM_054318141
- Peptide Label: isoform X3
Protein Domains
C2H2-type   SCAN box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86W11-F1-model_v2 AlphaFold Q86W11 1-494 view protein structure

Promoters
RGD ID:6795083
Promoter ID:HG_KWN:27879
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:ENST00000383091,   ENST00000399070,   ENST00000400443,   NM_001112734,   NM_001166012,   UC002KYN.1,   UC002KYP.2,   UC002KYR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361831,123,451 - 31,125,227 (+)MPROMDB
RGD ID:7237177
Promoter ID:EPDNEW_H24334
Type:initiation region
Name:ZSCAN30_1
Description:zinc finger and SCAN domain containing 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,290,201 - 35,290,261EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33517 AgrOrtholog
COSMIC ZSCAN30 COSMIC
Ensembl Genes ENSG00000186814 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000333206 ENTREZGENE
  ENST00000333206.10 UniProtKB/Swiss-Prot
  ENST00000420878 ENTREZGENE
  ENST00000420878.7 UniProtKB/Swiss-Prot
  ENST00000588448.1 UniProtKB/TrEMBL
  ENST00000589178.5 UniProtKB/TrEMBL
  ENST00000592211.1 UniProtKB/TrEMBL
  ENST00000592278.1 UniProtKB/TrEMBL
  ENST00000592598.1 UniProtKB/TrEMBL
  ENST00000601405.1 UniProtKB/TrEMBL
  ENST00000610712 ENTREZGENE
  ENST00000610712.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.4020.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000186814 GTEx
HGNC ID HGNC:33517 ENTREZGENE
Human Proteome Map ZSCAN30 Human Proteome Map
InterPro GLI_C2H2-zinc-finger UniProtKB/Swiss-Prot
  SCAN-C2H2_zinc_finger UniProtKB/TrEMBL
  SCAN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCAN_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100101467 UniProtKB/Swiss-Prot
NCBI Gene 100101467 ENTREZGENE
PANTHER FEZ FAMILY ZINC FINGER PROTEIN 2 UniProtKB/Swiss-Prot
  PROTEIN ZBED8-RELATED UniProtKB/TrEMBL
  SCAN DOMAIN-CONTAINING PROTEIN 3 UniProtKB/TrEMBL
  ZINC FINGER PROTEIN UniProtKB/TrEMBL
  ZINC FINGER PROTEIN 879 UniProtKB/TrEMBL
  ZINC FINGER PROTEIN ZIC AND GLI UniProtKB/Swiss-Prot
Pfam SCAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165429212 PharmGKB
PROSITE SCAN_BOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SCAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Retrovirus capsid dimerization domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGV0 ENTREZGENE, UniProtKB/TrEMBL
  B4E0N0 ENTREZGENE
  C9JCM2_HUMAN UniProtKB/TrEMBL
  K7EPB0_HUMAN UniProtKB/TrEMBL
  K7ERA9_HUMAN UniProtKB/TrEMBL
  M0QZC3_HUMAN UniProtKB/TrEMBL
  M0QZP2_HUMAN UniProtKB/TrEMBL
  M0R1Y0_HUMAN UniProtKB/TrEMBL
  Q6ZNB3 ENTREZGENE
  Q86W11 ENTREZGENE
  Q96PN3 ENTREZGENE
  ZSC30_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4E0N0 UniProtKB/Swiss-Prot
  Q6ZNB3 UniProtKB/Swiss-Prot
  Q96PN3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ZSCAN30  zinc finger and SCAN domain containing 30  ZNF397OS  zinc finger protein 397 opposite strand  Symbol and/or name change 5135510 APPROVED