GLI4 (GLI family zinc finger 4) - Rat Genome Database

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Gene: GLI4 (GLI family zinc finger 4) Homo sapiens
Analyze
Symbol: GLI4
Name: GLI family zinc finger 4
RGD ID: 1354466
HGNC Page HGNC
Description: Predicted to have 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, DNA-templated. Predicted to localize to chromatin; INTERACTS WITH acrylamide; aflatoxin B1; aflatoxin B2.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: GLI-Kruppel family member GLI4 (oncogene HKR4); glioma-associated oncogene family zinc finger 4; HKR4; krueppel-related zinc finger protein 4; zinc finger protein GLI4; ZNF928
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
GRCh38.p13 Ensembl8143,267,433 - 143,276,931 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,267,445 - 143,276,931 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,349,615 - 144,359,101 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,420,982 - 144,430,476 (+)NCBINCBI36hg18NCBI36
Build 348144,420,981 - 144,430,474NCBI
Celera8140,658,886 - 140,668,338 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,603,232 - 139,612,752 (+)NCBIHuRef
CHM1_18144,389,851 - 144,399,309 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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)

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2850480   PMID:8641133   PMID:11181995   PMID:12477932   PMID:15489334   PMID:17081983   PMID:21873635   PMID:25544563   PMID:28514442   PMID:29180619   PMID:31391242   PMID:32814053  


Genomics

Comparative Map Data
GLI4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,267,433 - 143,276,931 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,267,445 - 143,276,931 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,349,615 - 144,359,101 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,420,982 - 144,430,476 (+)NCBINCBI36hg18NCBI36
Build 348144,420,981 - 144,430,474NCBI
Celera8140,658,886 - 140,668,338 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,603,232 - 139,612,752 (+)NCBIHuRef
CHM1_18144,389,851 - 144,399,309 (+)NCBICHM1_1
2810039B14Rik
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,513,232 - 75,519,286 (+)NCBIGRCm39mm39
GRCm39 Ensembl1575,513,978 - 75,525,492 (+)Ensembl
GRCm381575,645,021 - 75,647,437 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,642,129 - 75,653,643 (+)EnsemblGRCm38mm10GRCm38
MGSCv371575,473,916 - 75,477,866 (+)NCBIGRCm37mm9NCBIm37
MGSCv361575,450,171 - 75,477,866 (+)NCBImm8
Celera1577,143,640 - 77,147,596 (+)NCBICelera
Cytogenetic Map15D3NCBI
Gli4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,325,584 - 107,330,911 (+)NCBI
Rnor_6.0 Ensembl7116,671,948 - 116,677,901 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,671,931 - 116,677,188 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,565,871 - 116,571,122 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,579,245 - 113,584,458 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7103,688,535 - 103,693,753 (+)NCBICelera
Cytogenetic Map7q34NCBI
Gli4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554541,996,426 - 2,004,848 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554541,996,256 - 2,004,848 (+)NCBIChiLan1.0ChiLan1.0
GLI4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,036,974 - 143,045,866 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08139,999,582 - 140,025,091 (+)NCBIMhudiblu_PPA_v0panPan3
GLI4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,029,553 - 37,035,429 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,028,512 - 37,035,454 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1336,982,079 - 36,988,003 (+)NCBI
ROS_Cfam_1.01337,500,865 - 37,526,485 (+)NCBI
UU_Cfam_GSD_1.01337,769,200 - 37,775,129 (+)NCBI
Gli4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,338,960 - 1,346,546 (-)NCBI
SpeTri2.0NW_0049364708,767,797 - 8,772,590 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GLI4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,212,546 - 1,222,032 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,195,414 - 1,222,456 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,441,507 - 1,451,025 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GLI4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,477,338 - 137,501,762 (+)NCBI
ChlSab1.1 Ensembl8137,491,467 - 137,498,821 (+)Ensembl
Gli4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,459,082 - 13,469,288 (-)NCBI

Position Markers
AF021132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,350,893 - 144,351,065UniSTSGRCh37
Build 368144,422,268 - 144,422,440RGDNCBI36
Celera8140,660,172 - 140,660,368RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,604,518 - 139,604,717UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4285
Count of miRNA genes:924
Interacting mature miRNAs:1133
Transcripts:ENST00000340042, ENST00000344692, ENST00000517468, ENST00000517530, ENST00000519876, ENST00000520021, ENST00000521682, ENST00000522033, ENST00000522479, ENST00000523522, ENST00000523812
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.


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 2139 1446 1138 260 981 139 3114 883 2911 190 1339 1372 131 1042 1819
Low 300 1544 588 364 963 326 1243 1314 823 229 120 241 44 1 162 969 6 2
Below cutoff 1 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000340042   ⟹   ENSP00000345024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,267,445 - 143,276,931 (+)Ensembl
RefSeq Acc Id: ENST00000344692   ⟹   ENSP00000344727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,269,358 - 143,275,552 (+)Ensembl
RefSeq Acc Id: ENST00000517468   ⟹   ENSP00000429295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,269,358 - 143,275,694 (+)Ensembl
RefSeq Acc Id: ENST00000517530   ⟹   ENSP00000429514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,269,466 - 143,276,411 (+)Ensembl
RefSeq Acc Id: ENST00000519876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,267,433 - 143,273,383 (+)Ensembl
RefSeq Acc Id: ENST00000520021   ⟹   ENSP00000427881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,269,370 - 143,275,305 (+)Ensembl
RefSeq Acc Id: ENST00000521682   ⟹   ENSP00000430292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,267,437 - 143,275,751 (+)Ensembl
RefSeq Acc Id: ENST00000522033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,274,462 - 143,276,170 (+)Ensembl
RefSeq Acc Id: ENST00000522479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,267,434 - 143,276,181 (+)Ensembl
RefSeq Acc Id: ENST00000523522   ⟹   ENSP00000430987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,269,358 - 143,276,931 (+)Ensembl
RefSeq Acc Id: ENST00000523812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,274,599 - 143,276,931 (+)Ensembl
RefSeq Acc Id: NM_138465   ⟹   NP_612474
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,267,445 - 143,276,931 (+)NCBI
GRCh378144,333,524 - 144,359,101 (+)NCBI
Build 368144,420,982 - 144,430,476 (+)NCBI Archive
Celera8140,658,886 - 140,668,338 (+)RGD
HuRef8139,603,232 - 139,612,752 (+)ENTREZGENE
CHM1_18144,389,851 - 144,399,309 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_612474   ⟸   NM_138465
- UniProtKB: P10075 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000429295   ⟸   ENST00000517468
RefSeq Acc Id: ENSP00000429514   ⟸   ENST00000517530
RefSeq Acc Id: ENSP00000427881   ⟸   ENST00000520021
RefSeq Acc Id: ENSP00000430292   ⟸   ENST00000521682
RefSeq Acc Id: ENSP00000430987   ⟸   ENST00000523522
RefSeq Acc Id: ENSP00000345024   ⟸   ENST00000340042
RefSeq Acc Id: ENSP00000344727   ⟸   ENST00000344692

Promoters
RGD ID:7214337
Promoter ID:EPDNEW_H12914
Type:initiation region
Name:GLI4_1
Description:GLI family zinc finger 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12915  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,267,445 - 143,267,505EPDNEW
RGD ID:7214339
Promoter ID:EPDNEW_H12915
Type:initiation region
Name:GLI4_2
Description:GLI family zinc finger 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12914  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,276,418 - 143,276,478EPDNEW
RGD ID:6806775
Promoter ID:HG_KWN:62253
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_138465
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,420,716 - 144,421,252 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144097119-144359147)x3 copy number gain not provided [RCV000747923] Chr8:144097119..144359147 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144339053-144379252)x3 copy number gain not provided [RCV000747932] Chr8:144339053..144379252 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144320365-144624272)x3 copy number gain not provided [RCV001006154] Chr8:144320365..144624272 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:144111911-144384136)x3 copy number gain not provided [RCV001259509] Chr8:144111911..144384136 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144285728-144534781)x3 copy number gain not provided [RCV001259511] Chr8:144285728..144534781 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4320 AgrOrtholog
COSMIC GLI4 COSMIC
Ensembl Genes ENSG00000250571 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344727 UniProtKB/TrEMBL
  ENSP00000345024 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427881 UniProtKB/TrEMBL
  ENSP00000429295 UniProtKB/TrEMBL
  ENSP00000429514 UniProtKB/TrEMBL
  ENSP00000430292 UniProtKB/TrEMBL
  ENSP00000430987 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000340042 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000344692 UniProtKB/TrEMBL
  ENST00000517468 UniProtKB/TrEMBL
  ENST00000517530 UniProtKB/TrEMBL
  ENST00000520021 UniProtKB/TrEMBL
  ENST00000521682 UniProtKB/TrEMBL
  ENST00000523522 UniProtKB/Swiss-Prot
GTEx ENSG00000250571 GTEx
HGNC ID HGNC:4320 ENTREZGENE
Human Proteome Map GLI4 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:2738 UniProtKB/Swiss-Prot
NCBI Gene 2738 ENTREZGENE
OMIM 165280 OMIM
Pfam zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA28723 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
UniProt E5RFY1_HUMAN UniProtKB/TrEMBL
  E5RG07_HUMAN UniProtKB/TrEMBL
  E5RGM1_HUMAN UniProtKB/TrEMBL
  E5RIX4_HUMAN UniProtKB/TrEMBL
  GLI4_HUMAN UniProtKB/Swiss-Prot
  H0YBH2_HUMAN UniProtKB/TrEMBL
  P10075 ENTREZGENE
UniProt Secondary Q96CK9 UniProtKB/Swiss-Prot