TIGD5 (tigger transposable element derived 5) - Rat Genome Database

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Gene: TIGD5 (tigger transposable element derived 5) Homo sapiens
Analyze
Symbol: TIGD5
Name: tigger transposable element derived 5
RGD ID: 1323107
HGNC Page HGNC
Description: Predicted to have DNA binding activity. Predicted to localize to nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ14926; MGC44883; tigger transposable element-derived protein 5
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 Ensembl8143,597,831 - 143,603,224 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,597,831 - 143,603,224 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,680,001 - 144,685,394 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,751,364 - 144,753,627 (+)NCBINCBI36hg18NCBI36
Build 348144,751,363 - 144,753,627NCBI
Celera8140,990,313 - 140,992,724 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,914,131 - 139,933,756 (+)NCBIHuRef
CHM1_18144,720,392 - 144,722,720 (+)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

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15489334   PMID:21873635   PMID:25416956   PMID:26186194   PMID:28514442   PMID:29507755   PMID:30021884   PMID:30804502   PMID:31391242  
PMID:31753913  


Genomics

Comparative Map Data
TIGD5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,597,831 - 143,603,224 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,597,831 - 143,603,224 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,680,001 - 144,685,394 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,751,364 - 144,753,627 (+)NCBINCBI36hg18NCBI36
Build 348144,751,363 - 144,753,627NCBI
Celera8140,990,313 - 140,992,724 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,914,131 - 139,933,756 (+)NCBIHuRef
CHM1_18144,720,392 - 144,722,720 (+)NCBICHM1_1
Tigd5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,781,584 - 75,786,384 (+)NCBIGRCm39mm39
GRCm39 Ensembl1575,781,584 - 75,786,384 (+)Ensembl
GRCm381575,909,735 - 75,914,535 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,909,735 - 75,914,535 (+)EnsemblGRCm38mm10GRCm38
MGSCv371575,740,165 - 75,744,965 (+)NCBIGRCm37mm9NCBIm37
MGSCv361575,737,015 - 75,741,789 (+)NCBImm8
Celera1577,410,746 - 77,415,546 (+)NCBICelera
Cytogenetic Map15D3NCBI
Tigd5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,596,724 - 107,599,243 (+)NCBI
Rnor_6.0 Ensembl7116,943,057 - 116,945,576 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,943,057 - 116,945,576 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,835,628 - 116,838,147 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,885,759 - 113,888,278 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17113,919,264 - 113,922,114 (+)NCBI
Celera7103,953,722 - 103,956,241 (+)NCBICelera
Cytogenetic Map7q34NCBI
Tigd5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,299,640 - 2,301,574 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,299,244 - 2,304,795 (+)NCBIChiLan1.0ChiLan1.0
TIGD5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,360,558 - 143,368,723 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,366,390 - 143,368,240 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,351,189 - 140,353,670 (+)NCBIMhudiblu_PPA_v0panPan3
TIGD5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,254,327 - 37,258,521 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,254,327 - 37,256,279 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,210,812 - 37,215,009 (+)NCBI
ROS_Cfam_1.01337,726,146 - 37,730,341 (+)NCBI
UMICH_Zoey_3.11337,400,416 - 37,404,611 (+)NCBI
UNSW_CanFamBas_1.01337,517,387 - 37,521,579 (+)NCBI
UU_Cfam_GSD_1.01337,998,621 - 38,002,814 (+)NCBI
Tigd5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,107,449 - 1,111,789 (-)NCBI
SpeTri2.0NW_0049364708,533,548 - 8,537,888 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TIGD5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4966,684 - 969,283 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14964,727 - 969,391 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TIGD5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,818,156 - 137,820,900 (+)NCBI
ChlSab1.1 Ensembl8137,818,489 - 137,820,420 (+)Ensembl
Tigd5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,143,055 - 13,148,487 (-)NCBI

Position Markers
RH80155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,671,876 - 144,672,092UniSTSGRCh37
Build 368144,743,019 - 144,743,235RGDNCBI36
Celera8140,982,111 - 140,982,327RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,923,401 - 139,923,617UniSTS
GeneMap99-GB4 RH Map8564.85UniSTS
TIGD5__5262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,681,856 - 144,682,681UniSTSGRCh37
Build 368144,752,999 - 144,753,824RGDNCBI36
Celera8140,992,095 - 140,992,920RGD
HuRef8139,933,127 - 139,933,952UniSTS
RH65386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,682,227 - 144,682,378UniSTSGRCh37
Build 368144,753,370 - 144,753,521RGDNCBI36
Celera8140,992,466 - 140,992,617RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,933,498 - 139,933,649UniSTS
GeneMap99-GB4 RH Map8557.13UniSTS
D19S994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371914,181,795 - 14,182,070UniSTSGRCh37
GRCh378144,661,944 - 144,662,699UniSTSGRCh37
Build 361914,042,795 - 14,043,070RGDNCBI36
Celera8140,972,175 - 140,972,930UniSTS
Celera1914,075,597 - 14,075,872RGD
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q24.3UniSTS
HuRef1913,753,453 - 13,753,728UniSTS
HuRef8139,913,465 - 139,914,220UniSTS
GeneMap99-G3 RH Map19423.0UniSTS
RH79617  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.3UniSTS
HuRef8139,923,430 - 139,923,617UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:778
Count of miRNA genes:323
Interacting mature miRNAs:355
Transcripts:ENST00000321385, ENST00000504548
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


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 119 141 39 89 42 99 45 337 109 279 276 6 16
Low 2319 2872 1579 579 1753 417 4257 2139 3395 309 1181 1337 169 1 1204 2772 6 2
Below cutoff 1 119 6 6 108 6 1 13 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000504548   ⟹   ENSP00000421489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,597,831 - 143,603,224 (+)Ensembl
RefSeq Acc Id: NM_032862   ⟹   NP_116251
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,597,831 - 143,603,224 (+)NCBI
GRCh378144,680,074 - 144,682,485 (+)RGD
Build 368144,751,364 - 144,753,627 (+)NCBI Archive
Celera8140,990,313 - 140,992,724 (+)RGD
HuRef8139,914,131 - 139,933,756 (+)ENTREZGENE
CHM1_18144,720,392 - 144,722,720 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_116251   ⟸   NM_032862
- UniProtKB: Q53EQ6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000421489   ⟸   ENST00000504548
Protein Domains
DDE-1   HTH CENPB-type   HTH psq-type

Promoters
RGD ID:6807062
Promoter ID:HG_KWN:62271
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:NM_001130053,   NM_001130054,   NM_001130055,   NM_001130056,   NM_001130057,   NM_001960,   NM_032378,   NM_032862,   UC003YYU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,749,286 - 144,754,127 (+)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 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 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 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 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
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(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
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 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621035-144713934)x0 copy number loss not provided [RCV000747936] Chr8:144621035..144713934 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621839-144694067)x3 copy number gain not provided [RCV000747938] Chr8:144621839..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144685178)x3 copy number gain not provided [RCV000747939] Chr8:144623574..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144687901)x3 copy number gain not provided [RCV000747940] Chr8:144623574..144687901 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144694067)x3 copy number gain not provided [RCV000747941] Chr8:144623574..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144685178)x3 copy number gain not provided [RCV000747944] Chr8:144641370..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144694067)x3 copy number gain not provided [RCV000747945] Chr8:144641370..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144695499)x3 copy number gain not provided [RCV000747946] Chr8:144641370..144695499 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641949-144688309)x3 copy number gain not provided [RCV000747947] Chr8:144641949..144688309 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144685178)x3 copy number gain not provided [RCV000747950] Chr8:144642054..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144686512)x3 copy number gain not provided [RCV000747951] Chr8:144642054..144686512 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642918-144685178)x3 copy number gain not provided [RCV000747953] Chr8:144642918..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644648-144689146)x3 copy number gain not provided [RCV000747954] Chr8:144644648..144689146 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144658716-144685178)x3 copy number gain not provided [RCV000747957] Chr8:144658716..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144658716-144689146)x3 copy number gain not provided [RCV000747958] Chr8:144658716..144689146 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144672047-144682311)x0 copy number loss not provided [RCV000747959] Chr8:144672047..144682311 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144679707-144682311)x1 copy number loss not provided [RCV000747960] Chr8:144679707..144682311 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144680358-144689289)x1 copy number loss not provided [RCV000747961] Chr8:144680358..144689289 [GRCh37]
Chr8:8q24.3
benign
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 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
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 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 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(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18336 AgrOrtholog
COSMIC TIGD5 COSMIC
Ensembl Genes ENSG00000179886 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000278016 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000315906 UniProtKB/Swiss-Prot
  ENSP00000421489 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000321385 UniProtKB/Swiss-Prot
  ENST00000504548 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000179886 GTEx
  ENSG00000278016 GTEx
HGNC ID HGNC:18336 ENTREZGENE
Human Proteome Map TIGD5 Human Proteome Map
InterPro DDE_SF_endonuclease_dom UniProtKB/Swiss-Prot
  Homeobox-like_sf UniProtKB/Swiss-Prot
  HTH_CenpB_DNA-bd_dom UniProtKB/Swiss-Prot
  HTH_Psq UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:84948 UniProtKB/Swiss-Prot
NCBI Gene 84948 ENTREZGENE
Pfam CENP-B_N UniProtKB/Swiss-Prot
  DDE_1 UniProtKB/Swiss-Prot
  HTH_Tnp_Tc5 UniProtKB/Swiss-Prot
PharmGKB PA38529 PharmGKB
PROSITE HTH_CENPB UniProtKB/Swiss-Prot
  HTH_PSQ UniProtKB/Swiss-Prot
SMART CENPB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt Q53EQ6 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary E7EWS2 UniProtKB/Swiss-Prot
  Q6NT83 UniProtKB/Swiss-Prot
  Q8N5A1 UniProtKB/Swiss-Prot
  Q96JW8 UniProtKB/Swiss-Prot