ZNF397 (zinc finger protein 397) - Rat Genome Database

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Gene: ZNF397 (zinc finger protein 397) Homo sapiens
Analyze
Symbol: ZNF397
Name: zinc finger protein 397
RGD ID: 1314512
HGNC Page HGNC:18818
Description: Enables protein heterodimerization activity and protein homodimerization activity. Involved in negative regulation of DNA-templated transcription. Located in several cellular components, including cytosol; microtubule cytoskeleton; and nucleolus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC13250; zinc finger and SCAN domain-containing protein 15; zinc finger protein 47; ZNF47; ZSCAN15
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
GRCh381835,241,034 - 35,259,227 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1835,241,030 - 35,267,133 (+)EnsemblGRCh38hg38GRCh38
GRCh371832,820,998 - 32,839,191 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361831,075,017 - 31,092,357 (+)NCBINCBI36Build 36hg18NCBI36
Build 341831,075,016 - 31,092,356NCBI
Celera1829,628,890 - 29,646,298 (+)NCBICelera
Cytogenetic Map18q12.2NCBI
HuRef1829,679,997 - 29,697,405 (+)NCBIHuRef
CHM1_11832,747,978 - 32,765,382 (+)NCBICHM1_1
T2T-CHM13v2.01835,431,795 - 35,450,511 (+)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
cytoplasm  (IDA,IEA)
cytosol  (IDA)
microtubule cytoskeleton  (IDA)
nucleolus  (IDA)
nucleus  (IDA,IEA)
plasma membrane  (IDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1505991   PMID:12477932   PMID:12801647   PMID:14702039   PMID:15489334   PMID:16344560   PMID:18029348   PMID:18369653   PMID:20211142   PMID:21516116   PMID:21873635   PMID:25416956  
PMID:26186194   PMID:26871637   PMID:27107014   PMID:28514442   PMID:31515488   PMID:32296183   PMID:32891193   PMID:32994395   PMID:33961781   PMID:35384245   PMID:36517590  


Genomics

Comparative Map Data
ZNF397
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381835,241,034 - 35,259,227 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1835,241,030 - 35,267,133 (+)EnsemblGRCh38hg38GRCh38
GRCh371832,820,998 - 32,839,191 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361831,075,017 - 31,092,357 (+)NCBINCBI36Build 36hg18NCBI36
Build 341831,075,016 - 31,092,356NCBI
Celera1829,628,890 - 29,646,298 (+)NCBICelera
Cytogenetic Map18q12.2NCBI
HuRef1829,679,997 - 29,697,405 (+)NCBIHuRef
CHM1_11832,747,978 - 32,765,382 (+)NCBICHM1_1
T2T-CHM13v2.01835,431,795 - 35,450,511 (+)NCBIT2T-CHM13v2.0
Zfp397
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391824,085,798 - 24,098,030 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1824,087,749 - 24,097,730 (+)EnsemblGRCm39 Ensembl
GRCm381823,952,741 - 23,964,671 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1823,954,692 - 23,964,673 (+)EnsemblGRCm38mm10GRCm38
MGSCv371824,113,189 - 24,123,172 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361824,097,696 - 24,105,876 (+)NCBIMGSCv36mm8
Celera1824,444,761 - 24,454,744 (+)NCBICelera
Cytogenetic Map18A2NCBI
cM Map1812.44NCBI
Zfp397
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81815,516,514 - 15,523,056 (+)NCBIGRCr8
mRatBN7.21815,241,764 - 15,253,148 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1815,242,096 - 15,300,984 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1815,427,230 - 15,433,414 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01816,209,934 - 16,216,118 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01815,499,672 - 15,505,856 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01815,856,841 - 15,865,574 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1815,856,801 - 15,863,053 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01815,623,490 - 15,631,605 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1815,190,280 - 15,196,499 (+)NCBICelera
Cytogenetic Map18p12NCBI
Znf397
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540221,974,795 - 21,978,770 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540221,973,687 - 21,982,202 (+)NCBIChiLan1.0ChiLan1.0
ZNF397
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21752,627,135 - 52,638,401 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11838,321,419 - 38,331,615 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01828,459,065 - 28,467,907 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11832,048,326 - 32,054,047 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1832,048,338 - 32,054,047 (+)Ensemblpanpan1.1panPan2
ZNF397
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1754,749,351 - 54,758,743 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl754,752,185 - 54,756,800 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha754,181,054 - 54,190,506 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0754,720,489 - 54,729,949 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl754,720,559 - 54,729,473 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1754,403,124 - 54,412,576 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0754,426,443 - 54,435,889 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0754,720,158 - 54,729,614 (-)NCBIUU_Cfam_GSD_1.0
Znf397
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494450,477,587 - 50,485,203 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365179,807,338 - 9,810,704 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365179,772,923 - 9,812,722 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZNF397
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6119,076,714 - 119,086,759 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16119,076,683 - 119,144,643 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26111,393,021 - 111,444,234 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZNF397
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11845,456,463 - 45,526,907 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1845,520,617 - 45,526,501 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605020,021,080 - 20,029,278 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Znf397
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247799,668,423 - 9,674,709 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247799,669,198 - 9,721,794 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ZNF397
29 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 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(chr18:53345-80209986)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 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 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 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 18q11.2-21.1(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_001135178.3(ZNF397):c.740T>C (p.Ile247Thr) single nucleotide variant Inborn genetic diseases [RCV003299712] Chr18:35245445 [GRCh38]
Chr18:32825409 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.935A>G (p.Gln312Arg) single nucleotide variant Inborn genetic diseases [RCV003251439] Chr18:35254000 [GRCh38]
Chr18:32833964 [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 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_001135178.3(ZNF397):c.938A>G (p.Tyr313Cys) single nucleotide variant Inborn genetic diseases [RCV003268680] Chr18:35245643 [GRCh38]
Chr18:32825607 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1268G>A (p.Gly423Asp) single nucleotide variant Inborn genetic diseases [RCV003260721] Chr18:35253667 [GRCh38]
Chr18:32833631 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.869C>G (p.Thr290Arg) single nucleotide variant Inborn genetic diseases [RCV003255051] Chr18:35254066 [GRCh38]
Chr18:32834030 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1367T>G (p.Leu456Arg) single nucleotide variant Inborn genetic diseases [RCV003273598] Chr18:35253568 [GRCh38]
Chr18:32833532 [GRCh37]
Chr18:18q12.2		 uncertain significance
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
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
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
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001135178.3(ZNF397):c.453G>T (p.Lys151Asn) single nucleotide variant Inborn genetic diseases [RCV002906808] Chr18:35243190 [GRCh38]
Chr18:32823154 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1030C>T (p.Leu344Phe) single nucleotide variant Inborn genetic diseases [RCV002817775] Chr18:35253905 [GRCh38]
Chr18:32833869 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.620C>T (p.Pro207Leu) single nucleotide variant Inborn genetic diseases [RCV002906319] Chr18:35245325 [GRCh38]
Chr18:32825289 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1127G>A (p.Arg376Gln) single nucleotide variant Inborn genetic diseases [RCV002734325] Chr18:35253808 [GRCh38]
Chr18:32833772 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1301T>C (p.Ile434Thr) single nucleotide variant Inborn genetic diseases [RCV002684656] Chr18:35253634 [GRCh38]
Chr18:32833598 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.572A>G (p.Glu191Gly) single nucleotide variant Inborn genetic diseases [RCV002973513] Chr18:35245277 [GRCh38]
Chr18:32825241 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.808A>G (p.Thr270Ala) single nucleotide variant Inborn genetic diseases [RCV002731819] Chr18:35245513 [GRCh38]
Chr18:32825477 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.628C>T (p.Pro210Ser) single nucleotide variant Inborn genetic diseases [RCV002906320] Chr18:35245333 [GRCh38]
Chr18:32825297 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.1297G>A (p.Ala433Thr) single nucleotide variant Inborn genetic diseases [RCV002870400] Chr18:35246002 [GRCh38]
Chr18:32825966 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.842G>T (p.Ser281Ile) single nucleotide variant Inborn genetic diseases [RCV002799049] Chr18:35254093 [GRCh38]
Chr18:32834057 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.564G>T (p.Met188Ile) single nucleotide variant Inborn genetic diseases [RCV002998530] Chr18:35254371 [GRCh38]
Chr18:32834335 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.685G>T (p.Ala229Ser) single nucleotide variant Inborn genetic diseases [RCV002768227] Chr18:35245390 [GRCh38]
Chr18:32825354 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1187G>A (p.Arg396Gln) single nucleotide variant Inborn genetic diseases [RCV002892254] Chr18:35253748 [GRCh38]
Chr18:32833712 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.1078C>T (p.Arg360Trp) single nucleotide variant Inborn genetic diseases [RCV002712556] Chr18:35245783 [GRCh38]
Chr18:32825747 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1385T>A (p.Ile462Asn) single nucleotide variant Inborn genetic diseases [RCV002896300] Chr18:35253550 [GRCh38]
Chr18:32833514 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.38C>A (p.Pro13His) single nucleotide variant Inborn genetic diseases [RCV002855697] Chr18:35242508 [GRCh38]
Chr18:32822472 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.625A>G (p.Met209Val) single nucleotide variant Inborn genetic diseases [RCV002673414] Chr18:35254310 [GRCh38]
Chr18:32834274 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.638G>C (p.Arg213Pro) single nucleotide variant Inborn genetic diseases [RCV003205887] Chr18:35245343 [GRCh38]
Chr18:32825307 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.91T>A (p.Ser31Thr) single nucleotide variant Inborn genetic diseases [RCV003261596] Chr18:35242561 [GRCh38]
Chr18:32822525 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.149G>A (p.Arg50His) single nucleotide variant Inborn genetic diseases [RCV003214692] Chr18:35242619 [GRCh38]
Chr18:32822583 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001112734.4(ZSCAN30):c.1343A>T (p.Lys448Ile) single nucleotide variant Inborn genetic diseases [RCV003379875] Chr18:35253592 [GRCh38]
Chr18:32833556 [GRCh37]
Chr18:18q12.2		 uncertain significance
NM_001135178.3(ZNF397):c.1135A>G (p.Ser379Gly) single nucleotide variant Inborn genetic diseases [RCV003386575] Chr18:35245840 [GRCh38]
Chr18:32825804 [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_001135178.3(ZNF397):c.38C>G (p.Pro13Arg) single nucleotide variant Inborn genetic diseases [RCV003378697] Chr18:35242508 [GRCh38]
Chr18:32822472 [GRCh37]
Chr18:18q12.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2257
Count of miRNA genes:936
Interacting mature miRNAs:1101
Transcripts:ENST00000261333, ENST00000330501, ENST00000355632, ENST00000585800, ENST00000588119, ENST00000589420, ENST00000589630, ENST00000590470, ENST00000591206, ENST00000591505, ENST00000592264, ENST00000601719
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.

Markers in Region
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
RH69802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,825,458 - 32,825,591UniSTSGRCh37
Build 361831,079,456 - 31,079,589RGDNCBI36
Celera1829,633,354 - 29,633,487RGD
Cytogenetic Map18q12.2UniSTS
HuRef1829,684,461 - 29,684,594UniSTS
GeneMap99-GB4 RH Map18292.25UniSTS


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 1077 967 875 88 745 21 1835 531 1275 100 795 1051 76 1 456 1195 4 2
Low 1362 1998 851 536 1185 444 2522 1661 2458 318 665 562 99 748 1593 2
Below cutoff 26 21 5 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA805259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF533250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY157641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI772202 (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
  DB047444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261333   ⟹   ENSP00000261333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,241,055 - 35,258,394 (+)Ensembl
RefSeq Acc Id: ENST00000330501   ⟹   ENSP00000331577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,241,034 - 35,249,808 (+)Ensembl
RefSeq Acc Id: ENST00000355632   ⟹   ENSP00000347850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,241,055 - 35,259,227 (+)Ensembl
RefSeq Acc Id: ENST00000585800   ⟹   ENSP00000466760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,241,057 - 35,244,069 (+)Ensembl
RefSeq Acc Id: ENST00000588119   ⟹   ENSP00000464808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,242,473 - 35,243,284 (+)Ensembl
RefSeq Acc Id: ENST00000589420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,241,051 - 35,267,133 (+)Ensembl
RefSeq Acc Id: ENST00000589630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,241,030 - 35,243,000 (+)Ensembl
RefSeq Acc Id: ENST00000590470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,242,795 - 35,243,238 (+)Ensembl
RefSeq Acc Id: ENST00000591206   ⟹   ENSP00000466317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,241,037 - 35,244,100 (+)Ensembl
RefSeq Acc Id: ENST00000591505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,254,197 - 35,258,279 (+)Ensembl
RefSeq Acc Id: ENST00000592264   ⟹   ENSP00000468413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,242,390 - 35,258,394 (+)Ensembl
RefSeq Acc Id: ENST00000601719   ⟹   ENSP00000472393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1835,241,036 - 35,242,886 (+)Ensembl
RefSeq Acc Id: NM_001135178   ⟹   NP_001128650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,241,034 - 35,249,808 (+)NCBI
GRCh371832,820,994 - 32,838,397 (+)RGD
Celera1829,628,890 - 29,646,298 (+)RGD
HuRef1829,679,997 - 29,697,405 (+)ENTREZGENE
CHM1_11832,747,978 - 32,754,137 (+)NCBI
T2T-CHM13v2.01835,432,314 - 35,441,089 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032347   ⟹   NP_115723
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,241,034 - 35,259,227 (+)NCBI
GRCh371832,820,994 - 32,838,397 (+)RGD
Build 361831,075,017 - 31,092,357 (+)NCBI Archive
Celera1829,628,890 - 29,646,298 (+)RGD
HuRef1829,679,997 - 29,697,405 (+)ENTREZGENE
CHM1_11832,747,978 - 32,765,382 (+)NCBI
T2T-CHM13v2.01835,432,314 - 35,450,511 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722558   ⟹   XP_006722621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,241,034 - 35,249,808 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526229   ⟹   XP_011524531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,241,034 - 35,249,808 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526230   ⟹   XP_011524532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,241,034 - 35,249,808 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011526231   ⟹   XP_011524533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,241,034 - 35,249,808 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451275   ⟹   XP_024307043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,243,366 - 35,249,808 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437888   ⟹   XP_047293844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,241,034 - 35,249,808 (+)NCBI
RefSeq Acc Id: XM_047437889   ⟹   XP_047293845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,241,034 - 35,249,808 (+)NCBI
RefSeq Acc Id: XM_047437890   ⟹   XP_047293846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381835,241,034 - 35,249,808 (+)NCBI
RefSeq Acc Id: XM_054319269   ⟹   XP_054175244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,432,314 - 35,441,089 (+)NCBI
RefSeq Acc Id: XM_054319270   ⟹   XP_054175245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,431,995 - 35,441,089 (+)NCBI
RefSeq Acc Id: XM_054319271   ⟹   XP_054175246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,432,314 - 35,441,089 (+)NCBI
RefSeq Acc Id: XM_054319272   ⟹   XP_054175247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,432,314 - 35,441,089 (+)NCBI
RefSeq Acc Id: XM_054319273   ⟹   XP_054175248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,432,327 - 35,441,089 (+)NCBI
RefSeq Acc Id: XM_054319274   ⟹   XP_054175249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,431,795 - 35,441,089 (+)NCBI
RefSeq Acc Id: XM_054319275   ⟹   XP_054175250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,432,314 - 35,441,089 (+)NCBI
RefSeq Acc Id: XM_054319276   ⟹   XP_054175251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01835,434,646 - 35,441,089 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001128650 (Get FASTA)   NCBI Sequence Viewer  
  NP_115723 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722621 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524531 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524532 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524533 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307043 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293844 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293845 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293846 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175244 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175245 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175246 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175247 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175248 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175249 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175250 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175251 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH06172 (Get FASTA)   NCBI Sequence Viewer  
  AAM95991 (Get FASTA)   NCBI Sequence Viewer  
  AAN65175 (Get FASTA)   NCBI Sequence Viewer  
  BAB55075 (Get FASTA)   NCBI Sequence Viewer  
  EAX01341 (Get FASTA)   NCBI Sequence Viewer  
  EAX01342 (Get FASTA)   NCBI Sequence Viewer  
  EAX01343 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000261333
  ENSP00000261333.5
  ENSP00000331577
  ENSP00000331577.6
  ENSP00000347850.4
  ENSP00000464808.1
  ENSP00000466317.1
  ENSP00000466760.1
  ENSP00000468413.1
  ENSP00000472393.1
GenBank Protein Q8NF99 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_115723   ⟸   NM_032347
- Peptide Label: isoform 2
- UniProtKB: Q96K65 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001128650   ⟸   NM_001135178
- Peptide Label: isoform 1
- UniProtKB: Q9BRM2 (UniProtKB/Swiss-Prot),   Q8NF99 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006722621   ⟸   XM_006722558
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011524531   ⟸   XM_011526229
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011524532   ⟸   XM_011526230
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011524533   ⟸   XM_011526231
- Peptide Label: isoform X2
- UniProtKB: Q9BRM2 (UniProtKB/Swiss-Prot),   Q8NF99 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024307043   ⟸   XM_024451275
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000466760   ⟸   ENST00000585800
RefSeq Acc Id: ENSP00000464808   ⟸   ENST00000588119
RefSeq Acc Id: ENSP00000472393   ⟸   ENST00000601719
RefSeq Acc Id: ENSP00000261333   ⟸   ENST00000261333
RefSeq Acc Id: ENSP00000347850   ⟸   ENST00000355632
RefSeq Acc Id: ENSP00000466317   ⟸   ENST00000591206
RefSeq Acc Id: ENSP00000468413   ⟸   ENST00000592264
RefSeq Acc Id: ENSP00000331577   ⟸   ENST00000330501
RefSeq Acc Id: XP_047293844   ⟸   XM_047437888
- Peptide Label: isoform X2
- UniProtKB: Q8NF99 (UniProtKB/Swiss-Prot),   Q9BRM2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047293846   ⟸   XM_047437890
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047293845   ⟸   XM_047437889
- Peptide Label: isoform X2
- UniProtKB: Q8NF99 (UniProtKB/Swiss-Prot),   Q9BRM2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054175249   ⟸   XM_054319274
- Peptide Label: isoform X2
- UniProtKB: Q8NF99 (UniProtKB/Swiss-Prot),   Q9BRM2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054175245   ⟸   XM_054319270
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175246   ⟸   XM_054319271
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175247   ⟸   XM_054319272
- Peptide Label: isoform X2
- UniProtKB: Q8NF99 (UniProtKB/Swiss-Prot),   Q9BRM2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054175244   ⟸   XM_054319269
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175250   ⟸   XM_054319275
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054175248   ⟸   XM_054319273
- Peptide Label: isoform X2
- UniProtKB: Q8NF99 (UniProtKB/Swiss-Prot),   Q9BRM2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054175251   ⟸   XM_054319276
- Peptide Label: isoform X3
Protein Domains
SCAN box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NF99-F1-model_v2 AlphaFold Q8NF99 1-534 view protein structure

Promoters
RGD ID:6795072
Promoter ID:HG_KWN:27876
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001135178,   NM_032347,   UC002KYI.1,   UC002KYK.1,   UC010DMQ.1,   UC010DMR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361831,074,186 - 31,075,077 (+)MPROMDB
RGD ID:7237173
Promoter ID:EPDNEW_H24333
Type:initiation region
Name:ZNF397_1
Description:zinc finger protein 397
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
GRCh381835,241,055 - 35,241,115EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18818 AgrOrtholog
COSMIC ZNF397 COSMIC
Ensembl Genes ENSG00000186812 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261333 ENTREZGENE
  ENST00000261333.10 UniProtKB/Swiss-Prot
  ENST00000330501 ENTREZGENE
  ENST00000330501.12 UniProtKB/Swiss-Prot
  ENST00000355632.8 UniProtKB/TrEMBL
  ENST00000585800.1 UniProtKB/Swiss-Prot
  ENST00000588119.1 UniProtKB/TrEMBL
  ENST00000591206.5 UniProtKB/Swiss-Prot
  ENST00000592264.1 UniProtKB/TrEMBL
  ENST00000601719.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.4020.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000186812 GTEx
HGNC ID HGNC:18818 ENTREZGENE
Human Proteome Map ZNF397 Human Proteome Map
InterPro SCAN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCAN_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:84307 UniProtKB/Swiss-Prot
NCBI Gene 84307 ENTREZGENE
OMIM 609601 OMIM
PANTHER PROTEIN ZBED8-RELATED UniProtKB/TrEMBL
  SCAN DOMAIN-CONTAINING PROTEIN 3 UniProtKB/TrEMBL
  ZINC FINGER PROTEIN 728-LIKE UniProtKB/Swiss-Prot
  ZINC FINGER PROTEIN ZIC AND GLI UniProtKB/Swiss-Prot
Pfam SCAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA38694 PharmGKB
PROSITE SCAN_BOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART SCAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP Retrovirus capsid dimerization domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot
UniProt K7EIM5_HUMAN UniProtKB/TrEMBL
  K7ERU5_HUMAN UniProtKB/TrEMBL
  M0R288_HUMAN UniProtKB/TrEMBL
  Q8NF99 ENTREZGENE
  Q96K65 ENTREZGENE, UniProtKB/TrEMBL
  Q9BRM2 ENTREZGENE
  ZN397_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q9BRM2 UniProtKB/Swiss-Prot