CECR2 (CECR2 histone acetyl-lysine reader) - Rat Genome Database

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Gene: CECR2 (CECR2 histone acetyl-lysine reader) Homo sapiens
Analyze
Symbol: CECR2
Name: CECR2 histone acetyl-lysine reader
RGD ID: 1350048
HGNC Page HGNC:1840
Description: Enables ATP-dependent chromatin remodeler activity. Involved in chromatin remodeling and execution phase of apoptosis. Located in nucleus. Part of CERF complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AC004019.18; cat eye syndrome chromosome region, candidate 2; cat eye syndrome critical region protein 2; CECR2, histone acetyl-lysine reader; chromatin remodeling regulator CECR2; KIAA1740
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh382217,359,949 - 17,558,151 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2217,359,949 - 17,558,151 (+)EnsemblGRCh38hg38GRCh38
GRCh372217,840,839 - 18,037,852 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362216,336,630 - 16,413,845 (+)NCBINCBI36Build 36hg18NCBI36
Build 342216,331,181 - 16,408,399NCBI
Celera221,579,045 - 1,656,270 (+)NCBICelera
Cytogenetic Map22q11.1-q11.21NCBI
HuRef221,668,589 - 1,852,277 (+)NCBIHuRef
CHM1_12217,956,236 - 18,033,462 (+)NCBICHM1_1
T2T-CHM13v2.02218,027,656 - 18,225,897 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
CERF complex  (IBA,IDA,IEA,IPI)
euchromatin  (IEA)
ISWI-type complex  (IEA)
nucleus  (IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
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:11214970   PMID:11381032   PMID:11827465   PMID:12762840   PMID:14702039   PMID:15640247   PMID:20379614   PMID:21810179   PMID:21873635   PMID:22154806   PMID:22395867   PMID:22623531  
PMID:22699752   PMID:23112755   PMID:24999758   PMID:25593309   PMID:26365797   PMID:26687479   PMID:27634302   PMID:30021884   PMID:31753913   PMID:32356653   PMID:33468647   PMID:33826083  
PMID:33961781   PMID:35108062   PMID:35271311   PMID:37689310  


Genomics

Comparative Map Data
CECR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382217,359,949 - 17,558,151 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2217,359,949 - 17,558,151 (+)EnsemblGRCh38hg38GRCh38
GRCh372217,840,839 - 18,037,852 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362216,336,630 - 16,413,845 (+)NCBINCBI36Build 36hg18NCBI36
Build 342216,331,181 - 16,408,399NCBI
Celera221,579,045 - 1,656,270 (+)NCBICelera
Cytogenetic Map22q11.1-q11.21NCBI
HuRef221,668,589 - 1,852,277 (+)NCBIHuRef
CHM1_12217,956,236 - 18,033,462 (+)NCBICHM1_1
T2T-CHM13v2.02218,027,656 - 18,225,897 (+)NCBIT2T-CHM13v2.0
Cecr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396120,643,275 - 120,748,152 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6120,643,330 - 120,748,151 (+)EnsemblGRCm39 Ensembl
GRCm386120,666,314 - 120,771,191 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6120,666,369 - 120,771,190 (+)EnsemblGRCm38mm10GRCm38
MGSCv376120,616,439 - 120,721,209 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366120,632,040 - 120,736,810 (+)NCBIMGSCv36mm8
Celera6122,508,426 - 122,613,358 (+)NCBICelera
Cytogenetic Map6F1NCBI
cM Map656.97NCBI
Cecr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84155,562,576 - 155,670,253 (+)NCBIGRCr8
mRatBN7.24153,890,310 - 153,998,078 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4153,890,206 - 153,993,451 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4160,155,571 - 160,258,812 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04155,939,306 - 156,042,549 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04154,562,639 - 154,665,875 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04153,217,521 - 153,327,153 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4153,217,782 - 153,322,564 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04220,306,740 - 220,417,297 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44157,071,991 - 157,174,938 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4142,731,933 - 142,834,618 (+)NCBICelera
Cytogenetic Map4q42NCBI
Cecr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554545,581,981 - 5,640,712 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554545,581,985 - 5,643,685 (+)NCBIChiLan1.0ChiLan1.0
LOC100991444
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22327,682,056 - 27,874,556 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12230,232,447 - 30,424,858 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v022795,525 - 987,645 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12216,229,348 - 16,417,958 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2216,335,754 - 16,412,640 (+)Ensemblpanpan1.1panPan2
CECR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12745,125,909 - 45,193,577 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2745,125,723 - 45,188,890 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha271,489,497 - 1,663,505 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02745,388,681 - 45,563,284 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2745,388,154 - 45,573,256 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12745,318,090 - 45,491,949 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02745,291,363 - 45,465,286 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.027843,709 - 1,017,572 (-)NCBIUU_Cfam_GSD_1.0
LOC101956240
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945110,399,769 - 110,447,351 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936807498,789 - 542,008 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936807498,491 - 542,503 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CECR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl569,621,959 - 69,740,958 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1569,621,871 - 69,747,730 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2571,997,730 - 72,020,437 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC101714324
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247359,747,550 - 9,896,370 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247359,749,105 - 9,896,328 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CECR2
30 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001290046.1(CECR2):c.-363-583G>A single nucleotide variant Lung cancer [RCV000101965] Chr22:17477005 [GRCh38]
Chr22:17956047 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001290046.1(CECR2):c.466-1572A>T single nucleotide variant Lung cancer [RCV000101966] Chr22:17522546 [GRCh38]
Chr22:18001574 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_001290046.1(CECR2):c.619+2899A>T single nucleotide variant Lung cancer [RCV000101967] Chr22:17527170 [GRCh38]
Chr22:18006866 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3 copy number gain See cases [RCV000050858] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1 copy number loss See cases [RCV000050859] Chr22:16916608..20324240 [GRCh38]
Chr22:17397498..20311763 [GRCh37]
Chr22:15777498..18691763 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3 copy number gain See cases [RCV000050614] Chr22:16916608..21151128 [GRCh38]
Chr22:17397498..21505417 [GRCh37]
Chr22:15777498..19835417 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1 copy number loss See cases [RCV000051270] Chr22:16538125..20363937 [GRCh38]
Chr22:17019015..20718227 [GRCh37]
Chr22:15399015..19048227 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3 copy number gain See cases [RCV000051127] Chr22:16916608..18718532 [GRCh38]
Chr22:17397498..18706045 [GRCh37]
Chr22:15777498..17086045 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3 copy number gain See cases [RCV000051917] Chr22:16578056..18134332 [GRCh38]
Chr22:17058946..18617099 [GRCh37]
Chr22:15438946..16997099 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3 copy number gain See cases [RCV000053100] Chr22:11121452..18167952 [GRCh38]
Chr22:16230024..18650719 [GRCh37]
Chr22:14610024..17030719 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]|See cases [RCV000053103] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20402677 [GRCh37]
Chr22:15777498..18782677 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
NM_001290046.1(CECR2):c.994G>A (p.Gly332Arg) single nucleotide variant Malignant melanoma [RCV000072885] Chr22:17539107 [GRCh38]
Chr22:18018796 [GRCh37]
Chr22:16398796 [NCBI36]
Chr22:22q11.21		 not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 copy number gain See cases [RCV000133785] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1 copy number loss See cases [RCV000133786] Chr22:16916608..20354644 [GRCh38]
Chr22:17397498..20708934 [GRCh37]
Chr22:15777498..19038934 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3 copy number gain See cases [RCV000133682] Chr22:16916608..20343532 [GRCh38]
Chr22:17397498..20659606 [GRCh37]
Chr22:15777498..18989606 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3 copy number gain See cases [RCV000134065] Chr22:16916743..19597367 [GRCh38]
Chr22:17397633..19584890 [GRCh37]
Chr22:15777633..17964890 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-17459881)x3 copy number gain See cases [RCV000137330] Chr22:16916608..17459881 [GRCh38]
Chr22:17397498..17938918 [GRCh37]
Chr22:15777498..16318918 [NCBI36]
Chr22:22q11.1-11.21		 likely benign
GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3 copy number gain See cases [RCV000138648] Chr22:16916743..18718546 [GRCh38]
Chr22:17397633..18706059 [GRCh37]
Chr22:15777633..17086059 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3 copy number gain See cases [RCV000138423] Chr22:16916743..18178991 [GRCh38]
Chr22:17397633..18661758 [GRCh37]
Chr22:15777633..17041758 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3 copy number gain See cases [RCV000139612] Chr22:16916743..18145439 [GRCh38]
Chr22:17397633..18628206 [GRCh37]
Chr22:15777633..17008206 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4 copy number gain See cases [RCV000142442] Chr22:16916608..18997006 [GRCh38]
Chr22:17397498..18984519 [GRCh37]
Chr22:15777498..17364519 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4 copy number gain See cases [RCV000142570] Chr22:16916608..18179006 [GRCh38]
Chr22:17397498..18661773 [GRCh37]
Chr22:15777498..17041773 [NCBI36]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4 copy number gain See cases [RCV000140776] Chr22:16367190..18178957 [GRCh38]
Chr22:16054691..18661724 [GRCh37]
Chr22:14434691..17041724 [NCBI36]
Chr22:22p11.2-q11.1		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4 copy number gain See cases [RCV000258792] Chr22:17012935..21431054 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16054691-18650708)x4 copy number gain See cases [RCV000240512] Chr22:16054691..18650708 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4 copy number gain See cases [RCV000515599] Chr22:16114244..18917748 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644773)x4 copy number gain See cases [RCV000446925] Chr22:16888899..18644773 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17450514-18636846)x3 copy number gain Cat eye syndrome [RCV000446162] Chr22:17450514..18636846 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic|uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20000830)x1 copy number loss See cases [RCV000446695] Chr22:16888899..20000830 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 copy number gain See cases [RCV000446787] Chr22:16888899..20311858 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20716903)x1 copy number loss See cases [RCV000448331] Chr22:16888899..20716903 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)x3 copy number gain See cases [RCV000448365] Chr22:16888899..18916828 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3 copy number gain See cases [RCV000510690] Chr22:16888899..20311858 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888900-20026751)x1 copy number loss See cases [RCV000510232] Chr22:16888900..20026751 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18648856)x4 copy number gain See cases [RCV000511343] Chr22:16888899..18648856 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x4 copy number gain See cases [RCV000511374] Chr22:16888899..18649190 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888900-18640300) copy number gain See cases [RCV000511748] Chr22:16888900..18640300 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828) copy number gain See cases [RCV000511922] Chr22:16888899..18916828 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 copy number gain not provided [RCV000684521] Chr22:16888899..20312661 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17891397-18058929)x3 copy number gain not provided [RCV000684459] Chr22:17891397..18058929 [GRCh37]
Chr22:22q11.1-11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x3 copy number gain not provided [RCV000684501] Chr22:16888899..18649190 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3 copy number gain not provided [RCV000845704] Chr22:17055733..20312661 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16114244-20737903)x3 copy number gain not provided [RCV000741690] Chr22:16114244..20737903 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787407] Chr22:17041669..20247250 [GRCh37]
Chr22:22q11.1-11.21		 likely pathogenic
NM_001290047.2(CECR2):c.3662G>A (p.Ser1221Asn) single nucleotide variant not provided [RCV000922962] Chr22:17548949 [GRCh38]
Chr22:18028639 [GRCh37]
Chr22:22q11.21		 likely benign
NM_001290047.2(CECR2):c.2228C>T (p.Ala743Val) single nucleotide variant not provided [RCV000906837] Chr22:17542371 [GRCh38]
Chr22:18022060 [GRCh37]
Chr22:22q11.21		 benign
NM_001290047.2(CECR2):c.3969G>A (p.Pro1323=) single nucleotide variant not provided [RCV000906838] Chr22:17549256 [GRCh38]
Chr22:18028946 [GRCh37]
Chr22:22q11.21		 benign
NM_001290047.2(CECR2):c.2682C>T (p.Arg894=) single nucleotide variant not provided [RCV000916127] Chr22:17542825 [GRCh38]
Chr22:18022514 [GRCh37]
Chr22:22q11.21		 likely benign
NM_001290047.2(CECR2):c.1777A>G (p.Ser593Gly) single nucleotide variant not provided [RCV000970805] Chr22:17540693 [GRCh38]
Chr22:18020382 [GRCh37]
Chr22:22q11.21		 benign
NM_001290047.2(CECR2):c.1143G>A (p.Arg381=) single nucleotide variant not provided [RCV000930566] Chr22:17537137 [GRCh38]
Chr22:18016826 [GRCh37]
Chr22:22q11.21		 likely benign
NM_001290047.2(CECR2):c.955-8C>T single nucleotide variant not provided [RCV000961726] Chr22:17524110 [GRCh38]
Chr22:18003136 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474) copy number gain not provided [RCV000767814] Chr22:17072086..20130474 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767815] Chr22:17289827..20311922 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3 copy number gain not provided [RCV000846815] Chr22:16888899..20312661 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-17979434)x3 copy number gain not provided [RCV000845772] Chr22:16888899..17979434 [GRCh37]
Chr22:22q11.1-11.21		 uncertain significance
NC_000022.10:g.(?_17565962)_(18570861_?)dup duplication Vasculitis due to ADA2 deficiency [RCV000811342] Chr22:17565962..18570861 [GRCh37]
Chr22:22q11.1-11.21		 uncertain significance
NC_000022.10:g.(?_17565982)_(18613903_?)del deletion not provided [RCV003107448] Chr22:17565982..18613903 [GRCh37]
Chr22:22q11.1-11.21		 uncertain significance
NC_000022.10:g.(?_17565982)_(20052185_?)del deletion Immunodeficiency 51 [RCV003122555]|Vasculitis due to ADA2 deficiency [RCV003107327] Chr22:17565982..20052185 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_001290047.2(CECR2):c.2214T>C (p.His738=) single nucleotide variant not provided [RCV000954528] Chr22:17542357 [GRCh38]
Chr22:18022046 [GRCh37]
Chr22:22q11.21		 benign
NM_001290047.2(CECR2):c.1369-7C>T single nucleotide variant not provided [RCV000973166] Chr22:17538986 [GRCh38]
Chr22:18018675 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1 copy number loss not provided [RCV001007159] Chr22:16888899..20730144 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_001290047.2(CECR2):c.901T>G (p.Leu301Val) single nucleotide variant not provided [RCV000958150] Chr22:17511843 [GRCh38]
Chr22:17990875 [GRCh37]
Chr22:22q11.21		 benign
NM_001290047.2(CECR2):c.2541C>T (p.Ala847=) single nucleotide variant not provided [RCV000958151] Chr22:17542684 [GRCh38]
Chr22:18022373 [GRCh37]
Chr22:22q11.21		 benign
NM_001290047.2(CECR2):c.3000A>G (p.Thr1000=) single nucleotide variant not provided [RCV000958166] Chr22:17548287 [GRCh38]
Chr22:18027977 [GRCh37]
Chr22:22q11.21		 benign
NM_001290047.2(CECR2):c.3189T>C (p.Pro1063=) single nucleotide variant not provided [RCV000958167] Chr22:17548476 [GRCh38]
Chr22:18028166 [GRCh37]
Chr22:22q11.21		 benign
NM_001290047.2(CECR2):c.4311G>C (p.Ser1437=) single nucleotide variant not provided [RCV000958168] Chr22:17552064 [GRCh38]
Chr22:18031749 [GRCh37]
Chr22:22q11.21		 benign
NM_001290047.2(CECR2):c.2044C>A (p.Pro682Thr) single nucleotide variant not provided [RCV000889864] Chr22:17542187 [GRCh38]
Chr22:18021876 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18629207)x3 copy number gain not provided [RCV001007157] Chr22:16888899..18629207 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)x4 copy number gain not provided [RCV001007158] Chr22:16888899..18916828 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644773)x4 copy number gain not provided [RCV001007161] Chr22:16888899..18644773 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20125005)x1 copy number loss not provided [RCV001007156] Chr22:16888899..20125005 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280738] Chr22:16888899..21915509 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4 copy number gain not provided [RCV001270641] Chr22:16800000..21500000 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_001290047.2(CECR2):c.1226dup (p.Thr410fs) duplication not provided [RCV002280013] Chr22:17537213..17537214 [GRCh38]
Chr22:18016902..18016903 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16850000-18885000)x3 copy number gain See cases [RCV001780075] Chr22:16850000..18885000 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
NM_001290047.2(CECR2):c.2281C>T (p.Arg761Ter) single nucleotide variant Autism [RCV002245518] Chr22:17542424 [GRCh38]
Chr22:18022113 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4 copy number gain Cat eye syndrome [RCV002221456] Chr22:16888899..18644241 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888900-18649190)x4 copy number gain not provided [RCV002472492] Chr22:16888900..18649190 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17570796-19695101)x1 copy number loss not provided [RCV002473774] Chr22:17570796..19695101 [GRCh37]
Chr22:22q11.1-11.21		 uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888900-18916828)x3 copy number gain not provided [RCV002472499] Chr22:16888900..18916828 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024) copy number gain Anomalous pulmonary venous return [RCV003223583] Chr22:16804110..18162024 [GRCh38]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1 copy number loss not provided [RCV003483389] Chr22:17832142..20945625 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18590640)x3 copy number gain not specified [RCV003986186] Chr22:16888899..18590640 [GRCh37]
Chr22:22q11.1-11.21		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3718
Count of miRNA genes:1106
Interacting mature miRNAs:1368
Transcripts:ENST00000262608, ENST00000342247, ENST00000355219, ENST00000400573, ENST00000400585, ENST00000497534
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.

Markers in Region
D22S420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,859,476 - 17,859,627UniSTSGRCh37
GRCh372217,859,503 - 17,859,639UniSTSGRCh37
Build 362216,239,476 - 16,239,627RGDNCBI36
Celera221,481,000 - 1,481,151RGD
Celera221,481,027 - 1,481,163UniSTS
Cytogenetic Map22q11.2UniSTS
HuRef221,678,338 - 1,678,489UniSTS
HuRef221,678,365 - 1,678,501UniSTS
Marshfield Genetic Map224.06UniSTS
Marshfield Genetic Map224.06RGD
Genethon Genetic Map220.0UniSTS
TNG Radiation Hybrid Map22173.0UniSTS
deCODE Assembly Map222.96UniSTS
Stanford-G3 RH Map2243.0UniSTS
GeneMap99-GB4 RH Map2214.85UniSTS
Whitehead-RH Map2219.8UniSTS
Whitehead-YAC Contig Map22 UniSTS
NCBI RH Map226.4UniSTS
GeneMap99-G3 RH Map2243.0UniSTS
G18171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,988,329 - 17,988,458UniSTSGRCh37
Build 362216,368,329 - 16,368,458RGDNCBI36
Celera221,610,745 - 1,610,874RGD
Cytogenetic Map22q11.2UniSTS
HuRef221,807,092 - 1,807,221UniSTS
RH98562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372218,033,415 - 18,033,582UniSTSGRCh37
Build 362216,413,415 - 16,413,582RGDNCBI36
Celera221,655,840 - 1,656,007RGD
Cytogenetic Map22q11.2UniSTS
HuRef221,851,847 - 1,852,014UniSTS
GeneMap99-GB4 RH Map2216.86UniSTS
RH1699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,930,963 - 17,931,066UniSTSGRCh37
Build 362216,310,963 - 16,311,066RGDNCBI36
Celera221,553,382 - 1,553,485RGD
Cytogenetic Map22q11.2UniSTS
HuRef221,750,425 - 1,750,528UniSTS
RH120398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,994,193 - 17,994,533UniSTSGRCh37
Build 362216,374,193 - 16,374,533RGDNCBI36
Celera221,616,609 - 1,616,949RGD
Cytogenetic Map22q11.2UniSTS
HuRef221,812,958 - 1,813,298UniSTS
TNG Radiation Hybrid Map22239.0UniSTS
D22S137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,894,073 - 17,894,233UniSTSGRCh37
Build 362216,274,073 - 16,274,233RGDNCBI36
Celera221,516,483 - 1,516,643RGD
Cytogenetic Map22q11.2UniSTS
HuRef221,713,532 - 1,713,692UniSTS
SHGC-105082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,971,682 - 17,971,967UniSTSGRCh37
Build 362216,351,682 - 16,351,967RGDNCBI36
Celera221,594,097 - 1,594,382RGD
Cytogenetic Map22q11.2UniSTS
HuRef221,790,434 - 1,790,719UniSTS
TNG Radiation Hybrid Map22242.0UniSTS
SHGC-105575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372218,003,101 - 18,003,387UniSTSGRCh37
Build 362216,383,101 - 16,383,387RGDNCBI36
Celera221,625,517 - 1,625,803RGD
Cytogenetic Map22q11.2UniSTS
HuRef221,821,854 - 1,822,140UniSTS
TNG Radiation Hybrid Map22232.0UniSTS
RH65881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372218,029,628 - 18,029,781UniSTSGRCh37
Build 362216,409,628 - 16,409,781RGDNCBI36
Celera221,652,053 - 1,652,206RGD
Cytogenetic Map22q11.2UniSTS
HuRef221,848,060 - 1,848,213UniSTS
GeneMap99-GB4 RH Map2216.86UniSTS
SHGC-60699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372217,899,075 - 17,899,207UniSTSGRCh37
GRCh371675,690,682 - 75,690,816UniSTSGRCh37
Build 361674,248,183 - 74,248,317RGDNCBI36
Celera221,521,485 - 1,521,617UniSTS
Celera1659,985,026 - 59,985,160RGD
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map16q23.1UniSTS
HuRef1661,444,358 - 61,444,492UniSTS
HuRef221,718,534 - 1,718,666UniSTS
GeneMap99-GB4 RH Map16446.85UniSTS
Whitehead-RH Map16321.4UniSTS
NCBI RH Map16584.6UniSTS
D1S3690  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p33UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map13q22.2UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map9q33UniSTS
D22S420  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q11.2UniSTS
TNG Radiation Hybrid Map22173.0UniSTS
Stanford-G3 RH Map2243.0UniSTS
NCBI RH Map226.4UniSTS
GeneMap99-G3 RH Map2243.0UniSTS


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
High
Medium 5 13 235 10 35 10 447 285 706 22 63 122 263
Low 1911 991 1199 452 440 396 2531 1833 2939 197 1193 1322 57 748 1669 4
Below cutoff 475 1934 267 145 1238 43 1358 69 67 110 156 131 115 1 456 848

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011546132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_951200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_951201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ABBA01001449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF336133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF411609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO681548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262608   ⟹   ENSP00000262608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2217,369,460 - 17,558,151 (+)Ensembl
RefSeq Acc Id: ENST00000342247   ⟹   ENSP00000341219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2217,369,460 - 17,558,151 (+)Ensembl
RefSeq Acc Id: ENST00000355219   ⟹   ENSP00000347357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2217,548,999 - 17,558,151 (+)Ensembl
RefSeq Acc Id: ENST00000400585   ⟹   ENSP00000383428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2217,359,949 - 17,558,151 (+)Ensembl
RefSeq Acc Id: ENST00000497534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2217,428,273 - 17,499,458 (+)Ensembl
RefSeq Acc Id: ENST00000612582   ⟹   ENSP00000477529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2217,477,093 - 17,558,149 (+)Ensembl
RefSeq Acc Id: NM_001290046   ⟹   NP_001276975
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,359,949 - 17,558,151 (+)NCBI
CHM1_12217,840,406 - 18,037,473 (+)NCBI
T2T-CHM13v2.02218,027,656 - 18,225,897 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001290047   ⟹   NP_001276976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,369,460 - 17,558,151 (+)NCBI
CHM1_12217,929,027 - 18,037,473 (+)NCBI
T2T-CHM13v2.02218,037,176 - 18,225,897 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724079   ⟹   XP_006724142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,539,159 - 17,558,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011546128   ⟹   XP_011544430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,369,460 - 17,558,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011546129   ⟹   XP_011544431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,369,460 - 17,558,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011546132   ⟹   XP_011544434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,369,460 - 17,558,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028785   ⟹   XP_016884274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,369,460 - 17,558,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452234   ⟹   XP_024308002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,468,613 - 17,558,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441341   ⟹   XP_047297297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,369,460 - 17,558,151 (+)NCBI
RefSeq Acc Id: XM_047441342   ⟹   XP_047297298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,369,460 - 17,558,151 (+)NCBI
RefSeq Acc Id: XM_047441343   ⟹   XP_047297299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,369,460 - 17,558,151 (+)NCBI
RefSeq Acc Id: XM_047441344   ⟹   XP_047297300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,468,614 - 17,558,151 (+)NCBI
RefSeq Acc Id: XM_047441345   ⟹   XP_047297301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382217,369,460 - 17,539,193 (+)NCBI
RefSeq Acc Id: XM_054325567   ⟹   XP_054181542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,037,176 - 18,225,897 (+)NCBI
RefSeq Acc Id: XM_054325568   ⟹   XP_054181543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,037,176 - 18,225,897 (+)NCBI
RefSeq Acc Id: XM_054325569   ⟹   XP_054181544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,037,176 - 18,225,897 (+)NCBI
RefSeq Acc Id: XM_054325570   ⟹   XP_054181545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,136,333 - 18,225,897 (+)NCBI
RefSeq Acc Id: XM_054325571   ⟹   XP_054181546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,037,176 - 18,225,897 (+)NCBI
RefSeq Acc Id: XM_054325572   ⟹   XP_054181547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,037,176 - 18,225,897 (+)NCBI
RefSeq Acc Id: XM_054325573   ⟹   XP_054181548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,037,176 - 18,225,897 (+)NCBI
RefSeq Acc Id: XM_054325574   ⟹   XP_054181549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,037,176 - 18,225,897 (+)NCBI
RefSeq Acc Id: XM_054325575   ⟹   XP_054181550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,136,334 - 18,225,897 (+)NCBI
RefSeq Acc Id: XM_054325576   ⟹   XP_054181551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,206,902 - 18,225,897 (+)NCBI
RefSeq Acc Id: XR_008485385
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,037,176 - 18,208,173 (+)NCBI
RefSeq Acc Id: XR_008485386
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02218,037,176 - 18,208,172 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001276975 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276976 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724142 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544430 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544431 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544434 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884274 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308002 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297297 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297298 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297299 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297300 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297301 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181542 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181543 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181544 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181545 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181546 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181547 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181548 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181549 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181550 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181551 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAK15343 (Get FASTA)   NCBI Sequence Viewer  
  AAL07393 (Get FASTA)   NCBI Sequence Viewer  
  BAB21831 (Get FASTA)   NCBI Sequence Viewer  
  CAH56122 (Get FASTA)   NCBI Sequence Viewer  
  CAH56212 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43745 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262608
  ENSP00000262608.11
  ENSP00000341219.6
  ENSP00000347357.3
  ENSP00000383428
  ENSP00000383428.2
  ENSP00000477529.1
GenBank Protein Q9BXF3 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: XP_006724142   ⟸   XM_006724079
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: NP_001276975   ⟸   NM_001290046
- Peptide Label: isoform 2
- UniProtKB: B7WPH3 (UniProtKB/TrEMBL),   A0A0R4J2E1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276976   ⟸   NM_001290047
- Peptide Label: isoform 1
- UniProtKB: Q9C0C3 (UniProtKB/Swiss-Prot),   Q96P58 (UniProtKB/Swiss-Prot),   Q658Z4 (UniProtKB/Swiss-Prot),   A8MX16 (UniProtKB/Swiss-Prot),   A8MS90 (UniProtKB/Swiss-Prot),   Q9BXF3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011544434   ⟸   XM_011546132
- Peptide Label: isoform X5
- UniProtKB: Q9C0C3 (UniProtKB/Swiss-Prot),   Q9BXF3 (UniProtKB/Swiss-Prot),   Q96P58 (UniProtKB/Swiss-Prot),   Q658Z4 (UniProtKB/Swiss-Prot),   A8MX16 (UniProtKB/Swiss-Prot),   A8MS90 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011544431   ⟸   XM_011546129
- Peptide Label: isoform X3
- UniProtKB: Q9C0C3 (UniProtKB/Swiss-Prot),   Q9BXF3 (UniProtKB/Swiss-Prot),   Q96P58 (UniProtKB/Swiss-Prot),   Q658Z4 (UniProtKB/Swiss-Prot),   A8MX16 (UniProtKB/Swiss-Prot),   A8MS90 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011544430   ⟸   XM_011546128
- Peptide Label: isoform X2
- UniProtKB: Q9C0C3 (UniProtKB/Swiss-Prot),   Q9BXF3 (UniProtKB/Swiss-Prot),   Q96P58 (UniProtKB/Swiss-Prot),   Q658Z4 (UniProtKB/Swiss-Prot),   A8MX16 (UniProtKB/Swiss-Prot),   A8MS90 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884274   ⟸   XM_017028785
- Peptide Label: isoform X1
- UniProtKB: Q9C0C3 (UniProtKB/Swiss-Prot),   Q9BXF3 (UniProtKB/Swiss-Prot),   Q96P58 (UniProtKB/Swiss-Prot),   Q658Z4 (UniProtKB/Swiss-Prot),   A8MX16 (UniProtKB/Swiss-Prot),   A8MS90 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308002   ⟸   XM_024452234
- Peptide Label: isoform X4
- UniProtKB: A0A087WT21 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000383428   ⟸   ENST00000400585
RefSeq Acc Id: ENSP00000477529   ⟸   ENST00000612582
RefSeq Acc Id: ENSP00000347357   ⟸   ENST00000355219
RefSeq Acc Id: ENSP00000262608   ⟸   ENST00000262608
RefSeq Acc Id: ENSP00000341219   ⟸   ENST00000342247
RefSeq Acc Id: XP_047297299   ⟸   XM_047441343
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047297298   ⟸   XM_047441342
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047297297   ⟸   XM_047441341
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047297301   ⟸   XM_047441345
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047297300   ⟸   XM_047441344
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054181542   ⟸   XM_054325567
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054181546   ⟸   XM_054325571
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054181544   ⟸   XM_054325569
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054181549   ⟸   XM_054325574
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054181543   ⟸   XM_054325568
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054181548   ⟸   XM_054325573
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054181547   ⟸   XM_054325572
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054181545   ⟸   XM_054325570
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054181550   ⟸   XM_054325575
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054181551   ⟸   XM_054325576
- Peptide Label: isoform X10
Protein Domains
Bromo

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXF3-F1-model_v2 AlphaFold Q9BXF3 1-1484 view protein structure

Promoters
RGD ID:13603126
Promoter ID:EPDNEW_H27747
Type:single initiation site
Name:CECR2_1
Description:CECR2, histone acetyl-lysine reader
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
GRCh382217,456,314 - 17,456,374EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1840 AgrOrtholog
COSMIC CECR2 COSMIC
Ensembl Genes ENSG00000099954 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262608 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000262608.13 UniProtKB/Swiss-Prot
  ENST00000342247.10 UniProtKB/Swiss-Prot
  ENST00000355219.4 UniProtKB/TrEMBL
  ENST00000400585 ENTREZGENE
  ENST00000400585.7 UniProtKB/TrEMBL
  ENST00000612582.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.920.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000099954 GTEx
HGNC ID HGNC:1840 ENTREZGENE
Human Proteome Map CECR2 Human Proteome Map
InterPro Bromodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bromodomain-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bromodomain_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CECR2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27443 UniProtKB/Swiss-Prot
NCBI Gene 27443 ENTREZGENE
OMIM 607576 OMIM
PANTHER CAT EYE SYNDROME CRITICAL REGION PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR47092 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Bromodomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26383 PharmGKB
PRINTS BROMODOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BROMODOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BROMODOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BROMO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WT21 ENTREZGENE, UniProtKB/TrEMBL
  A0A0R4J2E1 ENTREZGENE, UniProtKB/TrEMBL
  A8MS90 ENTREZGENE
  A8MX16 ENTREZGENE
  B7WPH3 ENTREZGENE, UniProtKB/TrEMBL
  CECR2_HUMAN UniProtKB/Swiss-Prot
  H0Y2Z1_HUMAN UniProtKB/TrEMBL
  L8E8W0_HUMAN UniProtKB/TrEMBL
  Q658Z4 ENTREZGENE
  Q96P58 ENTREZGENE
  Q9BXF3 ENTREZGENE
  Q9C0C3 ENTREZGENE
UniProt Secondary A8MS90 UniProtKB/Swiss-Prot
  A8MX16 UniProtKB/Swiss-Prot
  Q658Z4 UniProtKB/Swiss-Prot
  Q96P58 UniProtKB/Swiss-Prot
  Q9C0C3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 CECR2  CECR2 histone acetyl-lysine reader    CECR2, histone acetyl-lysine reader  Symbol and/or name change 5135510 APPROVED
2016-05-17 CECR2  CECR2, histone acetyl-lysine reader    cat eye syndrome chromosome region, candidate 2  Symbol and/or name change 5135510 APPROVED