IKZF5 (IKAROS family zinc finger 5) - Rat Genome Database

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Gene: IKZF5 (IKAROS family zinc finger 5) Homo sapiens
Analyze
Symbol: IKZF5
Name: IKAROS family zinc finger 5
RGD ID: 1322164
HGNC Page HGNC:14283
Description: Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and zinc ion binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleus. Part of protein-containing complex. Implicated in thrombocytopenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp781B0249; FLJ22973; IKAROS family zinc finger 5 (Pegasus); ikaros family zinc finger protein 5; Pegasus; THC7; zinc finger protein Pegasus; zinc finger protein, subfamily 1a, 5; zinc finger protein, subfamily 1A, 5 (Pegasus); zinc finger transcription factor Pegasus; ZNFN1A5
RGD Orthologs
Mouse
Rat
Chinchilla
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
GRCh3810122,990,806 - 123,008,795 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10122,990,807 - 123,008,812 (-)EnsemblGRCh38hg38GRCh38
GRCh3710124,750,322 - 124,768,311 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610124,743,187 - 124,758,301 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410124,741,954 - 124,758,311NCBI
Celera10118,459,665 - 118,474,783 (-)NCBICelera
Cytogenetic Map10q26.13NCBI
HuRef10118,368,066 - 118,386,114 (-)NCBIHuRef
CHM1_110125,032,052 - 125,050,096 (-)NCBICHM1_1
T2T-CHM13v2.010123,865,801 - 123,883,913 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10978333   PMID:12477932   PMID:12511597   PMID:14702039   PMID:15491138   PMID:16189514   PMID:16344560   PMID:18029348   PMID:21873635   PMID:25416956   PMID:25665578   PMID:26496610  
PMID:27107012   PMID:28514442   PMID:29844126   PMID:30217970   PMID:31217188   PMID:32296183   PMID:32419556   PMID:33961781   PMID:34189442   PMID:35140242   PMID:35271311  


Genomics

Comparative Map Data
IKZF5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810122,990,806 - 123,008,795 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10122,990,807 - 123,008,812 (-)EnsemblGRCh38hg38GRCh38
GRCh3710124,750,322 - 124,768,311 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610124,743,187 - 124,758,301 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410124,741,954 - 124,758,311NCBI
Celera10118,459,665 - 118,474,783 (-)NCBICelera
Cytogenetic Map10q26.13NCBI
HuRef10118,368,066 - 118,386,114 (-)NCBIHuRef
CHM1_110125,032,052 - 125,050,096 (-)NCBICHM1_1
T2T-CHM13v2.010123,865,801 - 123,883,913 (-)NCBIT2T-CHM13v2.0
Ikzf5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397130,990,378 - 131,012,243 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7130,990,381 - 131,012,250 (-)EnsemblGRCm39 Ensembl
GRCm387131,388,649 - 131,410,518 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7131,388,652 - 131,410,521 (-)EnsemblGRCm38mm10GRCm38
MGSCv377138,532,163 - 138,553,992 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367131,179,797 - 131,201,626 (-)NCBIMGSCv36mm8
Celera7131,199,793 - 131,221,622 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map773.98NCBI
Ikzf5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81195,599,287 - 195,619,024 (-)NCBIGRCr8
mRatBN7.21186,169,108 - 186,188,847 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1186,170,788 - 186,188,834 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1194,520,938 - 194,538,984 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01201,698,336 - 201,716,382 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01194,370,222 - 194,388,268 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01201,961,524 - 201,981,250 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1201,963,204 - 201,981,250 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01208,993,755 - 209,013,481 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41190,969,408 - 190,987,454 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11191,120,488 - 191,124,960 (-)NCBI
Celera1183,925,543 - 183,943,589 (-)NCBICelera
Cytogenetic Map1q41NCBI
Ikzf5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554771,160,183 - 1,177,616 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554771,160,183 - 1,177,597 (-)NCBIChiLan1.0ChiLan1.0
IKZF5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28134,834,733 - 134,852,771 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110134,840,078 - 134,858,097 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010119,547,766 - 119,565,804 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110123,821,461 - 123,839,499 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10123,821,461 - 123,839,499 (-)Ensemblpanpan1.1panPan2
IKZF5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12832,547,300 - 32,564,471 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2832,550,437 - 32,562,804 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2832,613,044 - 32,630,190 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02833,103,797 - 33,121,186 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2833,103,827 - 33,121,242 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12832,661,064 - 32,678,232 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02832,653,234 - 32,670,616 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02832,902,965 - 32,920,326 (-)NCBIUU_Cfam_GSD_1.0
Ikzf5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721313,893,300 - 13,909,468 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648611,650,306 - 11,668,285 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648611,652,234 - 11,667,972 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IKZF5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14132,544,591 - 132,563,124 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114132,544,592 - 132,563,250 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214144,131,151 - 144,149,381 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IKZF5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19115,665,333 - 115,684,162 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl9115,665,332 - 115,684,169 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604876,974,238 - 76,992,799 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ikzf5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473723,999,688 - 24,016,903 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IKZF5
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3 copy number gain See cases [RCV000050701] Chr10:119273012..123117390 [GRCh38]
Chr10:121032524..124876906 [GRCh37]
Chr10:121022514..124866896 [NCBI36]
Chr10:10q26.11-26.13
pathogenic
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 copy number loss See cases [RCV000051069] Chr10:122265252..133620674 [GRCh38]
Chr10:124024767..135434178 [GRCh37]
Chr10:124014757..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1 copy number loss See cases [RCV000052609] Chr10:122826743..126730948 [GRCh38]
Chr10:124586259..128419517 [GRCh37]
Chr10:124576249..128409507 [NCBI36]
Chr10:10q26.13-26.2
pathogenic
GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1 copy number loss See cases [RCV000052610] Chr10:122973296..128210291 [GRCh38]
Chr10:124732812..130008555 [GRCh37]
Chr10:124722802..129898545 [NCBI36]
Chr10:10q26.13-26.2
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
NM_001271840.1(IKZF5):c.317-119T>C single nucleotide variant Lung cancer [RCV000108765] Chr10:122994842 [GRCh38]
Chr10:124754358 [GRCh37]
Chr10:10q26.13
uncertain significance
H155Y variation Thrombocytopenia 7 [RCV001271090] Chr10:10q26.13 pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 copy number loss See cases [RCV000138435] Chr10:122881207..133620609 [GRCh38]
Chr10:124640723..135434113 [GRCh37]
Chr10:124630713..135284103 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 copy number loss See cases [RCV000139344] Chr10:120970558..133622588 [GRCh38]
Chr10:122730071..135436092 [GRCh37]
Chr10:122720061..135286082 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1 copy number loss See cases [RCV000139771] Chr10:122143176..124358013 [GRCh38]
Chr10:123902691..126046582 [GRCh37]
Chr10:123892681..126036572 [NCBI36]
Chr10:10q26.13
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 copy number loss See cases [RCV000142441] Chr10:121588992..133620674 [GRCh38]
Chr10:123348506..135434178 [GRCh37]
Chr10:123338496..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 copy number loss See cases [RCV000142737] Chr10:121918547..133620674 [GRCh38]
Chr10:123678062..135434178 [GRCh37]
Chr10:123668052..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1 copy number loss See cases [RCV000240153] Chr10:122239239..128203032 [GRCh37]
Chr10:10q26.12-26.2
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 copy number loss See cases [RCV000203440] Chr10:123731209..135353867 [GRCh37]
Chr10:10q26.13-26.3
pathogenic|likely pathogenic
GRCh37/hg19 10q26.13(chr10:124593422-125010666)x3 copy number gain See cases [RCV000240344] Chr10:124593422..125010666 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
C140R variation Thrombocytopenia 7 [RCV001271091] Chr10:10q26.13 pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 copy number gain See cases [RCV000449169] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 copy number loss See cases [RCV000449336] Chr10:124147428..135370736 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 copy number loss not provided [RCV000683287] Chr10:122509781..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 copy number loss not provided [RCV000683286] Chr10:123019239..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 copy number loss not provided [RCV000737305] Chr10:122443197..135477883 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) copy number loss Distal 10q deletion syndrome [RCV000767564] Chr10:117024753..124942806 [GRCh37]
Chr10:10q25.3-26.13
pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
NM_001372123.1(IKZF5):c.1072C>A (p.Gln358Lys) single nucleotide variant Thrombocytopenia 7 [RCV003313889] Chr10:122993968 [GRCh38]
Chr10:124753484 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.13(chr10:124252660-125447562)x1 copy number loss not provided [RCV002472737] Chr10:124252660..125447562 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001372123.1(IKZF5):c.362A>T (p.Tyr121Phe) single nucleotide variant Thrombocytopenia 7 [RCV002281022] Chr10:122994678 [GRCh38]
Chr10:124754194 [GRCh37]
Chr10:10q26.13
likely pathogenic|uncertain significance
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 copy number gain not provided [RCV001537903] Chr10:118247181..135435319 [GRCh37]
Chr10:10q25.3-26.3
pathogenic
Single allele deletion not provided [RCV001391678] Chr10:119302758..124813305 [GRCh37]
Chr10:10q26.11-26.13
likely pathogenic
NM_001372123.1(IKZF5):c.355T>C (p.Ser119Pro) single nucleotide variant Thrombocytopenia 7 [RCV001271094] Chr10:122994685 [GRCh38]
Chr10:124754201 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
G134E variation Thrombocytopenia 7 [RCV001271092] Chr10:10q26.13 pathogenic
IKZF5, ARG96TRP variation Thrombocytopenia 7 [RCV001271093] Chr10:10q26.13 pathogenic
NC_000010.11:g.123008776G>A single nucleotide variant Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV001514628]|not provided [RCV001615190] Chr10:123008776 [GRCh38]
Chr10:124768292 [GRCh37]
Chr10:10q26.13
benign
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 copy number loss See cases [RCV001526488] Chr10:122785023..135457222 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972) copy number gain not specified [RCV002052894] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) copy number loss not specified [RCV002052895] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066) copy number loss not specified [RCV002052892] Chr10:117019650..125217066 [GRCh37]
Chr10:10q25.3-26.13
pathogenic
NM_001372123.1(IKZF5):c.463C>T (p.His155Tyr) single nucleotide variant Thrombocytopenia 7 [RCV002245461] Chr10:122994577 [GRCh38]
Chr10:124754093 [GRCh37]
Chr10:10q26.13
pathogenic
NM_001372123.1(IKZF5):c.401G>A (p.Gly134Glu) single nucleotide variant Thrombocytopenia 7 [RCV002245463] Chr10:122994639 [GRCh38]
Chr10:124754155 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
NM_001372123.1(IKZF5):c.286C>T (p.Arg96Trp) single nucleotide variant Thrombocytopenia 7 [RCV002245464] Chr10:122996024 [GRCh38]
Chr10:124755540 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
NC_000010.10:g.(?_123239371)_(124813281_?)del deletion FGFR2-related craniosynostosis [RCV003119408] Chr10:123239371..124813281 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001372123.1(IKZF5):c.1150G>A (p.Gly384Arg) single nucleotide variant not provided [RCV003156612] Chr10:122993890 [GRCh38]
Chr10:124753406 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001372123.1(IKZF5):c.418T>C (p.Cys140Arg) single nucleotide variant Thrombocytopenia 7 [RCV002245462] Chr10:122994622 [GRCh38]
Chr10:124754138 [GRCh37]
Chr10:10q26.13
pathogenic
NM_001372123.1(IKZF5):c.1112T>C (p.Met371Thr) single nucleotide variant not provided [RCV002262293] Chr10:122993928 [GRCh38]
Chr10:124753444 [GRCh37]
Chr10:10q26.13
likely benign
NM_001372123.1(IKZF5):c.459G>C (p.Leu153Phe) single nucleotide variant Thrombocytopenia 7 [RCV003152842] Chr10:122994581 [GRCh38]
Chr10:124754097 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001372123.1(IKZF5):c.897C>T (p.Ala299=) single nucleotide variant not provided [RCV002511647] Chr10:122994143 [GRCh38]
Chr10:124753659 [GRCh37]
Chr10:10q26.13
likely benign
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1 copy number loss not provided [RCV003222684] Chr10:122610933..135439810 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143) copy number loss Distal 10q deletion syndrome [RCV003319590] Chr10:123477898..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_001372123.1(IKZF5):c.296_300delinsTGTGGATT (p.Glu99_His100delinsValTrpIle) indel Thrombocytopenia 7 [RCV003458947] Chr10:122996010..122996014 [GRCh38]
Chr10:124755526..124755530 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_001372123.1(IKZF5):c.254G>A (p.Arg85Gln) single nucleotide variant IKZF5-related disorder [RCV003392857] Chr10:122996056 [GRCh38]
Chr10:124755572 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1 copy number loss not provided [RCV004442821] Chr10:122331280..135426386 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NC_000010.10:g.(?_122610933)_(124813281_?)dup duplication FGFR2-related craniosynostosis [RCV004581690] Chr10:122610933..124813281 [GRCh37]
Chr10:10q26.12-26.13
uncertain significance
NC_000010.10:g.(?_122842033)_(124813281_?)del deletion Deficiency of 2-methylbutyryl-CoA dehydrogenase [RCV004580450] Chr10:122842033..124813281 [GRCh37]
Chr10:10q26.12-26.13
pathogenic
NM_001372123.1(IKZF5):c.883G>A (p.Ala295Thr) single nucleotide variant not specified [RCV004587803] Chr10:122994157 [GRCh38]
Chr10:124753673 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001372123.1(IKZF5):c.1014G>A (p.Thr338=) single nucleotide variant not provided [RCV004598863] Chr10:122994026 [GRCh38]
Chr10:124753542 [GRCh37]
Chr10:10q26.13
likely benign
NM_001372123.1(IKZF5):c.828T>G (p.Asp276Glu) single nucleotide variant not provided [RCV004793300] Chr10:122994212 [GRCh38]
Chr10:124753728 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001372123.1(IKZF5):c.207G>A (p.Met69Ile) single nucleotide variant not provided [RCV004793301] Chr10:122996103 [GRCh38]
Chr10:124755619 [GRCh37]
Chr10:10q26.13
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1414
Count of miRNA genes:855
Interacting mature miRNAs:1002
Transcripts:ENST00000368886, ENST00000469821, ENST00000479103, ENST00000496605
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597536335GWAS1632409_Hbody height QTL GWAS1632409 (human)0.000002body height (VT:0001253)body height (CMO:0000106)10122995595122995596Human
597131797GWAS1227871_Hbody height QTL GWAS1227871 (human)2e-09body height (VT:0001253)body height (CMO:0000106)10123008229123008230Human

Markers in Region
RH94240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,756,810 - 124,756,947UniSTSGRCh37
Build 3610124,746,800 - 124,746,937RGDNCBI36
Celera10118,463,278 - 118,463,415RGD
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q26UniSTS
HuRef10118,374,554 - 118,374,691UniSTS
GeneMap99-GB4 RH Map10536.65UniSTS
D10S1273E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,751,990 - 124,752,195UniSTSGRCh37
Build 3610124,741,980 - 124,742,185RGDNCBI36
Celera10118,458,458 - 118,458,663RGD
Cytogenetic Map10q26UniSTS
HuRef10118,369,734 - 118,369,939UniSTS
SHGC-34259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,750,359 - 124,750,484UniSTSGRCh37
Build 3610124,740,349 - 124,740,474RGDNCBI36
Celera10118,456,827 - 118,456,952RGD
Cytogenetic Map10q26UniSTS
HuRef10118,368,103 - 118,368,228UniSTS
GeneMap99-GB4 RH Map10545.5UniSTS
Whitehead-RH Map10643.0UniSTS
ZNFN1A5_8083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,752,970 - 124,753,894UniSTSGRCh37
Build 3610124,742,960 - 124,743,884RGDNCBI36
Celera10118,459,438 - 118,460,362RGD
HuRef10118,370,714 - 118,371,638UniSTS


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 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_067239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI560579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA218215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA227834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB080324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB224006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000368886   ⟹   ENSP00000357881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10122,990,807 - 123,008,795 (-)Ensembl
Ensembl Acc Id: ENST00000469821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10122,996,147 - 123,008,773 (-)Ensembl
Ensembl Acc Id: ENST00000479103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10122,998,227 - 123,008,812 (-)Ensembl
Ensembl Acc Id: ENST00000496605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10122,995,994 - 123,008,807 (-)Ensembl
Ensembl Acc Id: ENST00000617859   ⟹   ENSP00000478056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10122,990,808 - 123,008,687 (-)Ensembl
RefSeq Acc Id: NM_001271840   ⟹   NP_001258769
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,806 - 123,008,687 (-)NCBI
GRCh3710124,750,322 - 124,768,366 (-)NCBI
HuRef10118,368,066 - 118,386,114 (-)NCBI
CHM1_110125,032,052 - 125,049,933 (-)NCBI
T2T-CHM13v2.010123,865,801 - 123,883,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001372123   ⟹   NP_001359052
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,807 - 123,008,795 (-)NCBI
T2T-CHM13v2.010123,865,802 - 123,883,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001372124   ⟹   NP_001359053
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,807 - 123,008,795 (-)NCBI
T2T-CHM13v2.010123,865,802 - 123,883,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001372125   ⟹   NP_001359054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,807 - 123,008,795 (-)NCBI
T2T-CHM13v2.010123,865,802 - 123,883,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001372126   ⟹   NP_001359055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,807 - 123,008,795 (-)NCBI
T2T-CHM13v2.010123,865,802 - 123,883,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001372127   ⟹   NP_001359056
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,807 - 123,008,795 (-)NCBI
T2T-CHM13v2.010123,865,802 - 123,883,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001372128   ⟹   NP_001359057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,807 - 123,008,795 (-)NCBI
T2T-CHM13v2.010123,865,802 - 123,883,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001372129   ⟹   NP_001359058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,807 - 123,008,795 (-)NCBI
T2T-CHM13v2.010123,865,802 - 123,883,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001372130   ⟹   NP_001359059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,807 - 123,008,795 (-)NCBI
T2T-CHM13v2.010123,865,802 - 123,883,790 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001372131   ⟹   NP_001359060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,807 - 123,008,795 (-)NCBI
T2T-CHM13v2.010123,865,802 - 123,883,790 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717947   ⟹   XP_006718010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,806 - 123,008,795 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425645   ⟹   XP_047281601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,806 - 123,008,795 (-)NCBI
RefSeq Acc Id: XM_047425646   ⟹   XP_047281602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,806 - 123,008,795 (-)NCBI
RefSeq Acc Id: XM_047425647   ⟹   XP_047281603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,990,806 - 123,008,795 (-)NCBI
RefSeq Acc Id: XM_054366584   ⟹   XP_054222559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010123,865,801 - 123,883,790 (-)NCBI
RefSeq Acc Id: XM_054366585   ⟹   XP_054222560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010123,865,801 - 123,883,913 (-)NCBI
RefSeq Acc Id: XM_054366586   ⟹   XP_054222561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010123,865,801 - 123,883,790 (-)NCBI
RefSeq Acc Id: XM_054366587   ⟹   XP_054222562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010123,865,801 - 123,883,790 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001258769 (Get FASTA)   NCBI Sequence Viewer  
  NP_001359052 (Get FASTA)   NCBI Sequence Viewer  
  NP_001359053 (Get FASTA)   NCBI Sequence Viewer  
  NP_001359054 (Get FASTA)   NCBI Sequence Viewer  
  NP_001359055 (Get FASTA)   NCBI Sequence Viewer  
  NP_001359056 (Get FASTA)   NCBI Sequence Viewer  
  NP_001359057 (Get FASTA)   NCBI Sequence Viewer  
  NP_001359058 (Get FASTA)   NCBI Sequence Viewer  
  NP_001359059 (Get FASTA)   NCBI Sequence Viewer  
  NP_001359060 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718010 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281601 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281602 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281603 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222559 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222560 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222561 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222562 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG39220 (Get FASTA)   NCBI Sequence Viewer  
  BAB15512 (Get FASTA)   NCBI Sequence Viewer  
  BAG53789 (Get FASTA)   NCBI Sequence Viewer  
  CAH18660 (Get FASTA)   NCBI Sequence Viewer  
  CAH56199 (Get FASTA)   NCBI Sequence Viewer  
  EAW49292 (Get FASTA)   NCBI Sequence Viewer  
  EAW49293 (Get FASTA)   NCBI Sequence Viewer  
  EAW49294 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000357881
  ENSP00000357881.5
  ENSP00000478056
  ENSP00000478056.1
GenBank Protein Q9H5V7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001258769   ⟸   NM_001271840
- Peptide Label: isoform 1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006718010   ⟸   XM_006717947
- Peptide Label: isoform X1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001359055   ⟸   NM_001372126
- Peptide Label: isoform 1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001359057   ⟸   NM_001372128
- Peptide Label: isoform 1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001359054   ⟸   NM_001372125
- Peptide Label: isoform 1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001359060   ⟸   NM_001372131
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001359053   ⟸   NM_001372124
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001359052   ⟸   NM_001372123
- Peptide Label: isoform 1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001359058   ⟸   NM_001372129
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001359056   ⟸   NM_001372127
- Peptide Label: isoform 1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001359059   ⟸   NM_001372130
- Peptide Label: isoform 2
Ensembl Acc Id: ENSP00000478056   ⟸   ENST00000617859
Ensembl Acc Id: ENSP00000357881   ⟸   ENST00000368886
RefSeq Acc Id: XP_047281602   ⟸   XM_047425646
- Peptide Label: isoform X1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047281603   ⟸   XM_047425647
- Peptide Label: isoform X1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047281601   ⟸   XM_047425645
- Peptide Label: isoform X1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054222560   ⟸   XM_054366585
- Peptide Label: isoform X1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054222561   ⟸   XM_054366586
- Peptide Label: isoform X1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054222562   ⟸   XM_054366587
- Peptide Label: isoform X1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054222559   ⟸   XM_054366584
- Peptide Label: isoform X1
- UniProtKB: Q9H5V7 (UniProtKB/Swiss-Prot),   D3DRE7 (UniProtKB/Swiss-Prot),   B3KVH7 (UniProtKB/Swiss-Prot),   Q9H2T0 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H5V7-F1-model_v2 AlphaFold Q9H5V7 1-419 view protein structure

Promoters
RGD ID:7218889
Promoter ID:EPDNEW_H15191
Type:initiation region
Name:IKZF5_1
Description:IKAROS family zinc finger 5
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
GRCh3810123,008,795 - 123,008,855EPDNEW
RGD ID:6787783
Promoter ID:HG_KWN:11510
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:UC001LGZ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3610124,741,216 - 124,741,716 (-)MPROMDB
RGD ID:6787304
Promoter ID:HG_KWN:11511
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:ENST00000263447,   OTTHUMT00000050820,   OTTHUMT00000050821,   OTTHUMT00000050822,   OTTHUMT00000050823,   OTTHUMT00000050843
Position:
Human AssemblyChrPosition (strand)Source
Build 3610124,757,456 - 124,758,887 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14283 AgrOrtholog
COSMIC IKZF5 COSMIC
Ensembl Genes ENSG00000095574 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368886 ENTREZGENE
  ENST00000368886.10 UniProtKB/Swiss-Prot
  ENST00000617859 ENTREZGENE
  ENST00000617859.4 UniProtKB/Swiss-Prot
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000095574 GTEx
HGNC ID HGNC:14283 ENTREZGENE
Human Proteome Map IKZF5 Human Proteome Map
InterPro Ikaros_C2H2-ZF UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:64376 UniProtKB/Swiss-Prot
NCBI Gene 64376 ENTREZGENE
OMIM 606238 OMIM
PANTHER ZINC FINGER PROTEIN UniProtKB/Swiss-Prot
  ZINC FINGER PROTEIN PEGASUS UniProtKB/Swiss-Prot
PharmGKB PA162391969 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 B3KVH7 ENTREZGENE
  D3DRE7 ENTREZGENE
  IKZF5_HUMAN UniProtKB/Swiss-Prot
  Q9H2T0 ENTREZGENE
  Q9H5V7 ENTREZGENE
UniProt Secondary B3KVH7 UniProtKB/Swiss-Prot
  D3DRE7 UniProtKB/Swiss-Prot
  Q9H2T0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 IKZF5  IKAROS family zinc finger 5  IKZF5  IKAROS family zinc finger 5 (Pegasus)  Symbol and/or name change 5135510 APPROVED