CTCF (CCCTC-binding factor) - Rat Genome Database

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Gene: CTCF (CCCTC-binding factor) Homo sapiens
Analyze
Symbol: CTCF
Name: CCCTC-binding factor
RGD ID: 733105
HGNC Page HGNC
Description: Enables DNA binding activity; DNA-binding transcription repressor activity, RNA polymerase II-specific; and transcription coregulator binding activity. Involved in several processes, including genetic imprinting; nucleosome positioning; and regulation of gene expression. Located in chromosome and nuclear lumen. Implicated in autosomal dominant non-syndromic intellectual disability 21.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 11 zinc finger transcriptional repressor; 11-zinc finger protein; CCCTC-binding factor (zinc finger protein); CFAP108; CTCFL paralog; FAP108; MRD21; transcriptional repressor CTCF
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 Ensembl1667,562,467 - 67,639,177 (+)EnsemblGRCh38hg38GRCh38
GRCh381667,562,526 - 67,639,185 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371667,596,429 - 67,673,088 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,153,965 - 66,230,589 (+)NCBINCBI36hg18NCBI36
Build 341666,153,963 - 66,230,580NCBI
Celera1652,104,229 - 52,181,578 (+)NCBI
Cytogenetic Map16q22.1NCBI
HuRef1653,469,579 - 53,546,004 (+)NCBIHuRef
CHM1_11669,003,654 - 69,080,781 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal temper tantrums  (IAGP)
Atrial septal defect  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Broad hallux phalanx  (IAGP)
Broad nasal tip  (IAGP)
Chronic lung disease  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Deeply set eye  (IAGP)
Delayed speech and language development  (IAGP)
Epicanthus  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fetal distress  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
Highly arched eyebrow  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypotonia  (IAGP)
Incisor macrodontia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Joint contracture of the 5th finger  (IAGP)
Long eyelashes  (IAGP)
Long philtrum  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrodontia of permanent maxillary central incisor  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microdontia  (IAGP)
Midface retrusion  (IAGP)
Mitral regurgitation  (IAGP)
Narrow forehead  (IAGP)
Narrow mouth  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Osteopenia  (IAGP)
Patent ductus arteriosus  (IAGP)
Phimosis  (IAGP)
Prolonged neonatal jaundice  (IAGP)
Prominent fingertip pads  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary hemorrhage  (IAGP)
Recurrent infections  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Sacral dimple  (IAGP)
Sandal gap  (IAGP)
Sepsis  (IAGP)
Short columella  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Sleep disturbance  (IAGP)
Small for gestational age  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Thick eyebrow  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Ventriculomegaly  (IAGP)
References

Additional References at PubMed
PMID:8649389   PMID:9407128   PMID:9591631   PMID:10458613   PMID:10625678   PMID:10734189   PMID:10839546   PMID:10839547   PMID:10906122   PMID:11525835   PMID:11743158   PMID:11748221  
PMID:11782357   PMID:11827452   PMID:11971967   PMID:11997516   PMID:12054881   PMID:12075007   PMID:12099698   PMID:12191639   PMID:12203779   PMID:12417987   PMID:12461525   PMID:12477932  
PMID:12524457   PMID:12787766   PMID:12878173   PMID:12960026   PMID:14503807   PMID:14645507   PMID:14645543   PMID:14702039   PMID:14716017   PMID:14759373   PMID:15084242   PMID:15096508  
PMID:15229244   PMID:15304340   PMID:15361875   PMID:15454938   PMID:15471867   PMID:15489334   PMID:15669143   PMID:15670593   PMID:15731119   PMID:15941718   PMID:15958555   PMID:16107875  
PMID:16140944   PMID:16230345   PMID:16344560   PMID:16595548   PMID:16731911   PMID:16815976   PMID:16949368   PMID:16989720   PMID:17081983   PMID:17210645   PMID:17218270   PMID:17267480  
PMID:17382889   PMID:17583694   PMID:17603073   PMID:17827499   PMID:18021171   PMID:18207574   PMID:18219272   PMID:18235444   PMID:18237772   PMID:18347100   PMID:18413740   PMID:18550811  
PMID:18604514   PMID:18654629   PMID:18662993   PMID:18923423   PMID:19008940   PMID:19056695   PMID:19060911   PMID:19074263   PMID:19158269   PMID:19247430   PMID:19274049   PMID:19322193  
PMID:19369356   PMID:19450526   PMID:19505873   PMID:19513555   PMID:19536159   PMID:19568426   PMID:19584098   PMID:19644448   PMID:19737964   PMID:19818655   PMID:19922652   PMID:19956589  
PMID:20038529   PMID:20051228   PMID:20101205   PMID:20110362   PMID:20133600   PMID:20196073   PMID:20360068   PMID:20404925   PMID:20427289   PMID:20478995   PMID:20584980   PMID:20610384  
PMID:20733034   PMID:20877461   PMID:20966046   PMID:21145461   PMID:21296871   PMID:21325284   PMID:21444719   PMID:21536749   PMID:21550623   PMID:21663659   PMID:21873635   PMID:21880767  
PMID:21884934   PMID:21912613   PMID:21964334   PMID:21970734   PMID:22072770   PMID:22142239   PMID:22247490   PMID:22286186   PMID:22347474   PMID:22354964   PMID:22422629   PMID:22487828  
PMID:22538856   PMID:22586326   PMID:22615834   PMID:22791747   PMID:22879976   PMID:22939629   PMID:22944692   PMID:22952237   PMID:23186133   PMID:23192870   PMID:23204437   PMID:23553099  
PMID:23602572   PMID:23620300   PMID:23706817   PMID:23746550   PMID:23843455   PMID:23874213   PMID:23884423   PMID:23908591   PMID:24023969   PMID:24130125   PMID:24174344   PMID:24257606  
PMID:24321385   PMID:24335803   PMID:24362533   PMID:24393203   PMID:24415941   PMID:24457600   PMID:24498324   PMID:24534946   PMID:24561205   PMID:24614316   PMID:24659782   PMID:24725430  
PMID:24794443   PMID:24842653   PMID:24901509   PMID:24937458   PMID:24981860   PMID:25135475   PMID:25299688   PMID:25363768   PMID:25411781   PMID:25416956   PMID:25499215   PMID:25580597  
PMID:25592173   PMID:25646466   PMID:25658338   PMID:25665578   PMID:25693804   PMID:25694598   PMID:25703332   PMID:25875106   PMID:25881024   PMID:25934638   PMID:25936568   PMID:26125810  
PMID:26154016   PMID:26186194   PMID:26276636   PMID:26302455   PMID:26315019   PMID:26321255   PMID:26321640   PMID:26330387   PMID:26376810   PMID:26439501   PMID:26472760   PMID:26478432  
PMID:26496610   PMID:26549029   PMID:26549033   PMID:26578602   PMID:26598620   PMID:26686651   PMID:26711177   PMID:26747525   PMID:26784546   PMID:26802288   PMID:26833217   PMID:26929370  
PMID:26938874   PMID:26949251   PMID:26953320   PMID:26983574   PMID:27019336   PMID:27067545   PMID:27089971   PMID:27219007   PMID:27226577   PMID:27248496   PMID:27417714   PMID:27490693  
PMID:27505670   PMID:27569350   PMID:27582050   PMID:27583466   PMID:27638884   PMID:27684187   PMID:27762310   PMID:27798106   PMID:27848966   PMID:27974201   PMID:28045091   PMID:28077445  
PMID:28161276   PMID:28242625   PMID:28262757   PMID:28319062   PMID:28490592   PMID:28514442   PMID:28529057   PMID:28536180   PMID:28560323   PMID:28700943   PMID:28796949   PMID:28848059  
PMID:28862757   PMID:28973861   PMID:29076501   PMID:29077515   PMID:29110030   PMID:29117863   PMID:29157910   PMID:29180619   PMID:29217591   PMID:29235471   PMID:29398485   PMID:29437926  
PMID:29507755   PMID:29509190   PMID:29568061   PMID:29576527   PMID:29581440   PMID:29654311   PMID:29698677   PMID:29723654   PMID:29760161   PMID:29844126   PMID:29845264   PMID:29845934  
PMID:29898989   PMID:29941091   PMID:29956775   PMID:29976663   PMID:29981477   PMID:30021884   PMID:30031212   PMID:30031214   PMID:30086769   PMID:30096365   PMID:30212590   PMID:30296942  
PMID:30310060   PMID:30459231   PMID:30471916   PMID:30674949   PMID:30738580   PMID:30804502   PMID:30873749   PMID:30893510   PMID:30902546   PMID:31076284   PMID:31076518   PMID:31091453  
PMID:31127282   PMID:31164150   PMID:31177910   PMID:31204999   PMID:31237042   PMID:31239556   PMID:31266948   PMID:31292201   PMID:31340001   PMID:31372638   PMID:31391552   PMID:31518612  
PMID:31527615   PMID:31547883   PMID:31562641   PMID:31586073   PMID:31666380   PMID:31736271   PMID:31753913   PMID:31831844   PMID:31837328   PMID:31905366   PMID:31911579   PMID:31917284  
PMID:31937660   PMID:31971633   PMID:32065581   PMID:32086528   PMID:32170002   PMID:32216806   PMID:32232485   PMID:32296183   PMID:32299027   PMID:32334335   PMID:32393311   PMID:32398790  
PMID:32416067   PMID:32503656   PMID:32518417   PMID:32541019   PMID:32594908   PMID:32692488   PMID:32807901   PMID:32814053   PMID:32838362   PMID:32868908   PMID:32885250   PMID:32933554  
PMID:33004838   PMID:33057942   PMID:33071257   PMID:33187878   PMID:33196849   PMID:33204322   PMID:33208463   PMID:33229569   PMID:33239721   PMID:33255744   PMID:33411704   PMID:33436746  
PMID:33512425   PMID:33594051   PMID:33863876   PMID:33895926   PMID:34042564   PMID:34079125   PMID:34209337   PMID:34245617  


Genomics

Comparative Map Data
CTCF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1667,562,467 - 67,639,177 (+)EnsemblGRCh38hg38GRCh38
GRCh381667,562,526 - 67,639,185 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371667,596,429 - 67,673,088 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361666,153,965 - 66,230,589 (+)NCBINCBI36hg18NCBI36
Build 341666,153,963 - 66,230,580NCBI
Celera1652,104,229 - 52,181,578 (+)NCBI
Cytogenetic Map16q22.1NCBI
HuRef1653,469,579 - 53,546,004 (+)NCBIHuRef
CHM1_11669,003,654 - 69,080,781 (+)NCBICHM1_1
Ctcf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398106,351,135 - 106,409,554 (+)NCBIGRCm39mm39
GRCm39 Ensembl8106,363,200 - 106,409,554 (+)Ensembl
GRCm388105,636,474 - 105,682,922 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8105,636,568 - 105,682,922 (+)EnsemblGRCm38mm10GRCm38
MGSCv378108,160,438 - 108,206,822 (+)NCBIGRCm37mm9NCBIm37
MGSCv368108,525,670 - 108,572,051 (+)NCBImm8
Celera8109,860,822 - 109,907,765 (+)NCBICelera
Cytogenetic Map8D3NCBI
Ctcf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21933,521,726 - 33,571,124 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1933,529,319 - 33,571,123 (+)Ensembl
Rnor_6.01937,600,151 - 37,649,674 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1937,600,148 - 37,649,673 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01948,467,547 - 48,516,378 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41935,461,942 - 35,514,934 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11935,466,822 - 35,519,814 (+)NCBI
Celera1932,950,156 - 32,999,072 (+)NCBICelera
Cytogenetic Map19q12NCBI
Ctcf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554849,042,524 - 9,064,927 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554849,041,226 - 9,092,924 (-)NCBIChiLan1.0ChiLan1.0
CTCF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11667,302,952 - 67,372,041 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1667,302,952 - 67,372,041 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01647,906,503 - 47,983,271 (+)NCBIMhudiblu_PPA_v0panPan3
CTCF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1581,808,512 - 81,863,811 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl581,809,393 - 81,858,655 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha581,798,220 - 81,853,471 (-)NCBI
ROS_Cfam_1.0582,243,654 - 82,298,999 (-)NCBI
UMICH_Zoey_3.1582,069,946 - 82,125,241 (-)NCBI
UNSW_CanFamBas_1.0581,751,450 - 81,806,353 (-)NCBI
UU_Cfam_GSD_1.0582,394,029 - 82,449,348 (-)NCBI
Ctcf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934941,557,377 - 41,601,957 (-)NCBI
SpeTri2.0NW_00493647517,987,137 - 18,031,733 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CTCF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl628,195,668 - 28,261,009 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1628,188,002 - 28,261,009 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2625,467,984 - 25,508,432 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CTCF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1559,806,753 - 59,889,534 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl559,806,551 - 59,880,049 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604722,559,050 - 22,640,771 (-)NCBIVero_WHO_p1.0
Ctcf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474618,705,017 - 18,760,345 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D16S3085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,667,595 - 67,667,792UniSTSGRCh37
Build 361666,225,096 - 66,225,293RGDNCBI36
Celera1652,176,085 - 52,176,282RGD
Cytogenetic Map16q21-q22.3UniSTS
HuRef1653,540,137 - 53,540,334UniSTS
Marshfield Genetic Map1685.94UniSTS
Marshfield Genetic Map1685.94RGD
Genethon Genetic Map1684.4UniSTS
deCODE Assembly Map1684.83UniSTS
D16S3107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37171,482,420 - 1,482,894UniSTSGRCh37
GRCh371667,657,938 - 67,658,231UniSTSGRCh37
Build 361666,215,439 - 66,215,732RGDNCBI36
Celera1652,166,423 - 52,166,720RGD
Celera171,497,851 - 1,498,323UniSTS
HuRef1653,530,474 - 53,530,771UniSTS
HuRef171,381,834 - 1,382,308UniSTS
Marshfield Genetic Map1685.94RGD
Marshfield Genetic Map1685.94UniSTS
Genethon Genetic Map1684.4UniSTS
SHGC-60657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,598,391 - 67,598,573UniSTSGRCh37
Build 361666,155,892 - 66,156,074RGDNCBI36
Celera1652,106,713 - 52,106,895RGD
Cytogenetic Map16q21-q22.3UniSTS
HuRef1653,471,660 - 53,471,842UniSTS
Whitehead-RH Map16303.1UniSTS
NCBI RH Map16508.6UniSTS
WI-21064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,672,288 - 67,672,577UniSTSGRCh37
Build 361666,229,789 - 66,230,078RGDNCBI36
Celera1652,180,778 - 52,181,067RGD
Cytogenetic Map16q21-q22.3UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef1653,545,204 - 53,545,493UniSTS
GeneMap99-GB4 RH Map16405.34UniSTS
Whitehead-RH Map16303.1UniSTS
NCBI RH Map16508.6UniSTS
SHGC-3332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,594,321 - 67,594,456UniSTSGRCh37
Build 361666,151,822 - 66,151,957RGDNCBI36
Cytogenetic Map16q21-q22.3UniSTS
HuRef1653,467,591 - 53,467,726UniSTS
TNG Radiation Hybrid Map1629109.0UniSTS
Stanford-G3 RH Map162532.0UniSTS
RH80821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,671,812 - 67,672,018UniSTSGRCh37
Build 361666,229,313 - 66,229,519RGDNCBI36
Celera1652,180,302 - 52,180,508RGD
Cytogenetic Map16q21-q22.3UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef1653,544,728 - 53,544,934UniSTS
Ctcf  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,672,926 - 67,673,048UniSTSGRCh37
Build 361666,230,427 - 66,230,549RGDNCBI36
Celera1652,181,416 - 52,181,538RGD
HuRef1653,545,842 - 53,545,964UniSTS
SHGC-152529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,657,997 - 67,658,198UniSTSGRCh37
GRCh371667,657,983 - 67,658,198UniSTSGRCh37
Build 361666,215,484 - 66,215,699RGDNCBI36
Celera1652,166,472 - 52,166,687RGD
Celera1652,166,486 - 52,166,687UniSTS
Cytogenetic Map16q21-q22.3UniSTS
HuRef1653,530,523 - 53,530,738UniSTS
HuRef1653,530,537 - 53,530,738UniSTS
TNG Radiation Hybrid Map1736674.0UniSTS
RH68791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,672,512 - 67,672,642UniSTSGRCh37
Build 361666,230,013 - 66,230,143RGDNCBI36
Celera1652,181,002 - 52,181,132RGD
Cytogenetic Map16q21-q22.3UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef1653,545,428 - 53,545,558UniSTS
GeneMap99-GB4 RH Map16406.77UniSTS
NCBI RH Map16508.6UniSTS
CTCF_3772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,672,354 - 67,673,076UniSTSGRCh37
Build 361666,229,855 - 66,230,577RGDNCBI36
Celera1652,180,844 - 52,181,566RGD
HuRef1653,545,270 - 53,545,992UniSTS
SHGC-151259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,658,139 - 67,658,242UniSTSGRCh37
Celera1652,166,628 - 52,166,731UniSTS
Cytogenetic Map16q21-q22.3UniSTS
HuRef1653,530,679 - 53,530,782UniSTS
TNG Radiation Hybrid Map1629127.0UniSTS
TNG Radiation Hybrid Map173520.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:977
Count of miRNA genes:434
Interacting mature miRNAs:461
Transcripts:ENST00000264010, ENST00000401394, ENST00000566078
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2416 2349 1551 469 1690 311 4330 1910 3189 385 1440 1604 171 1203 2764 4
Low 20 637 174 154 261 154 26 286 540 34 17 5 1 24 1 1
Below cutoff 1 3 1 1 1 4 2 4 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001191022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA814313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI753629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB229066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U25435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264010   ⟹   ENSP00000264010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,562,526 - 67,639,177 (+)Ensembl
RefSeq Acc Id: ENST00000401394   ⟹   ENSP00000384707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,562,573 - 67,639,168 (+)Ensembl
RefSeq Acc Id: ENST00000566078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,610,827 - 67,612,465 (+)Ensembl
RefSeq Acc Id: ENST00000642420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,626,509 - 67,639,130 (+)Ensembl
RefSeq Acc Id: ENST00000642819   ⟹   ENSP00000494408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,570,773 - 67,639,162 (+)Ensembl
RefSeq Acc Id: ENST00000642847   ⟹   ENSP00000495923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,567,891 - 67,611,239 (+)Ensembl
RefSeq Acc Id: ENST00000642943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,614,328 - 67,627,910 (+)Ensembl
RefSeq Acc Id: ENST00000643892   ⟹   ENSP00000494358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,570,778 - 67,639,164 (+)Ensembl
RefSeq Acc Id: ENST00000644753   ⟹   ENSP00000493495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,570,741 - 67,639,175 (+)Ensembl
RefSeq Acc Id: ENST00000644852   ⟹   ENSP00000495115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,562,489 - 67,611,321 (+)Ensembl
RefSeq Acc Id: ENST00000644950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,620,887 - 67,639,173 (+)Ensembl
RefSeq Acc Id: ENST00000645306   ⟹   ENSP00000495218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,570,774 - 67,639,163 (+)Ensembl
RefSeq Acc Id: ENST00000645409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,614,963 - 67,639,039 (+)Ensembl
RefSeq Acc Id: ENST00000645699   ⟹   ENSP00000495348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,610,590 - 67,638,966 (+)Ensembl
RefSeq Acc Id: ENST00000646076   ⟹   ENSP00000494538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,562,467 - 67,639,176 (+)Ensembl
RefSeq Acc Id: ENST00000646566
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,615,309 - 67,639,162 (+)Ensembl
RefSeq Acc Id: ENST00000646771   ⟹   ENSP00000494443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1667,562,589 - 67,639,138 (+)Ensembl
RefSeq Acc Id: NM_001191022   ⟹   NP_001177951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,562,526 - 67,639,177 (+)NCBI
GRCh371667,596,310 - 67,673,088 (+)ENTREZGENE
HuRef1653,469,579 - 53,546,004 (+)ENTREZGENE
CHM1_11669,003,654 - 69,080,781 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363916   ⟹   NP_001350845
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,570,773 - 67,639,185 (+)NCBI
RefSeq Acc Id: NM_006565   ⟹   NP_006556
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,562,526 - 67,639,177 (+)NCBI
GRCh371667,596,310 - 67,673,088 (+)ENTREZGENE
Build 361666,153,965 - 66,230,589 (+)NCBI Archive
HuRef1653,469,579 - 53,546,004 (+)ENTREZGENE
CHM1_11669,003,654 - 69,080,781 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255775   ⟹   XP_005255832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,562,526 - 67,639,185 (+)NCBI
GRCh371667,596,310 - 67,673,088 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022868   ⟹   XP_016878357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,570,773 - 67,638,878 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006556   ⟸   NM_006565
- Peptide Label: isoform 1
- UniProtKB: P49711 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177951   ⟸   NM_001191022
- Peptide Label: isoform 2
- UniProtKB: P49711 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005255832   ⟸   XM_005255775
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016878357   ⟸   XM_017022868
- Peptide Label: isoform X1
- UniProtKB: P49711 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350845   ⟸   NM_001363916
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000384707   ⟸   ENST00000401394
RefSeq Acc Id: ENSP00000495923   ⟸   ENST00000642847
RefSeq Acc Id: ENSP00000494408   ⟸   ENST00000642819
RefSeq Acc Id: ENSP00000494358   ⟸   ENST00000643892
RefSeq Acc Id: ENSP00000495115   ⟸   ENST00000644852
RefSeq Acc Id: ENSP00000493495   ⟸   ENST00000644753
RefSeq Acc Id: ENSP00000495348   ⟸   ENST00000645699
RefSeq Acc Id: ENSP00000495218   ⟸   ENST00000645306
RefSeq Acc Id: ENSP00000264010   ⟸   ENST00000264010
RefSeq Acc Id: ENSP00000494538   ⟸   ENST00000646076
RefSeq Acc Id: ENSP00000494443   ⟸   ENST00000646771
Protein Domains
C2H2-type

Promoters
RGD ID:6792940
Promoter ID:HG_KWN:24042
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:OTTHUMT00000268870,   UC010CEK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361666,153,256 - 66,154,172 (+)MPROMDB
RGD ID:7232553
Promoter ID:EPDNEW_H22023
Type:initiation region
Name:CTCF_1
Description:CCCTC-binding factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22024  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,562,584 - 67,562,644EPDNEW
RGD ID:7232557
Promoter ID:EPDNEW_H22024
Type:initiation region
Name:CTCF_2
Description:CCCTC-binding factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22023  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,610,975 - 67,611,035EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006565.4(CTCF):c.1700G>T (p.Arg567Leu) single nucleotide variant not provided [RCV000521064] Chr16:67628551 [GRCh38]
Chr16:67662454 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_006565.4(CTCF):c.375dup (p.Val126fs) duplication Mental retardation, autosomal dominant 21 [RCV000074333] Chr16:67611206..67611207 [GRCh38]
Chr16:67645109..67645110 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.1186dup (p.Arg396fs) duplication Mental retardation, autosomal dominant 21 [RCV000074334] Chr16:67620792..67620793 [GRCh38]
Chr16:67654695..67654696 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV000074335]|not provided [RCV000413282] Chr16:67628550 [GRCh38]
Chr16:67662453 [GRCh37]
Chr16:16q22.1
pathogenic|likely pathogenic
NM_006565.3(CTCF):c.953-1861C>T single nucleotide variant Lung cancer [RCV000100187] Chr16:67614884 [GRCh38]
Chr16:67648787 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2
pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1 copy number loss See cases [RCV000053333] Chr16:62179331..67770414 [GRCh38]
Chr16:62213235..67804317 [GRCh37]
Chr16:60770736..66361818 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1 copy number loss See cases [RCV000053335] Chr16:64311275..68062011 [GRCh38]
Chr16:64345179..68095914 [GRCh37]
Chr16:62902680..66653415 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1 copy number loss See cases [RCV000053336] Chr16:66694180..67865445 [GRCh38]
Chr16:66728083..67899348 [GRCh37]
Chr16:65285584..66456849 [NCBI36]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.1768G>C (p.Glu590Gln) single nucleotide variant not specified [RCV000116844] Chr16:67629464 [GRCh38]
Chr16:67663367 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_006565.4(CTCF):c.1164C>T (p.Ser388=) single nucleotide variant History of neurodevelopmental disorder [RCV000715378]|not provided [RCV001711199]|not specified [RCV000116843] Chr16:67620774 [GRCh38]
Chr16:67654677 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_006565.4(CTCF):c.576A>G (p.Gln192=) single nucleotide variant not provided [RCV001310332] Chr16:67611408 [GRCh38]
Chr16:67645311 [GRCh37]
Chr16:16q22.1
likely benign
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1
pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3
pathogenic
NM_006565.4(CTCF):c.1887C>T (p.Ala629=) single nucleotide variant History of neurodevelopmental disorder [RCV000718205]|not specified [RCV000193052] Chr16:67636739 [GRCh38]
Chr16:67670642 [GRCh37]
Chr16:16q22.1
benign|likely benign|uncertain significance
NM_006565.4(CTCF):c.2139C>T (p.Asn713=) single nucleotide variant History of neurodevelopmental disorder [RCV000715765]|not provided [RCV000968729]|not specified [RCV000193125] Chr16:67637827 [GRCh38]
Chr16:67671730 [GRCh37]
Chr16:16q22.1
benign|likely benign|uncertain significance
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000716543]|Mental retardation, autosomal dominant 21 [RCV000989613]|not provided [RCV000427860]|not specified [RCV000193895] Chr16:67636779 [GRCh38]
Chr16:67670682 [GRCh37]
Chr16:16q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006565.4(CTCF):c.1021C>T (p.Arg341Cys) single nucleotide variant not specified [RCV000195202] Chr16:67616813 [GRCh38]
Chr16:67650716 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.1986C>G (p.Pro662=) single nucleotide variant not provided [RCV000907650]|not specified [RCV000195282] Chr16:67636838 [GRCh38]
Chr16:67670741 [GRCh37]
Chr16:16q22.1
benign|uncertain significance
NM_006565.4(CTCF):c.1220A>G (p.Tyr407Cys) single nucleotide variant not provided [RCV000255519] Chr16:67621454 [GRCh38]
Chr16:67655357 [GRCh37]
Chr16:16q22.1
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Ductal breast carcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2
likely pathogenic|uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_006565.4(CTCF):c.1468A>G (p.Lys490Glu) single nucleotide variant Inborn genetic diseases [RCV000622268] Chr16:67626665 [GRCh38]
Chr16:67660568 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.1670_1674del (p.Val556_Cys557insTer) deletion not provided [RCV000284751] Chr16:67628518..67628522 [GRCh38]
Chr16:67662421..67662425 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.610dup (p.Thr204fs) duplication not provided [RCV000398560] Chr16:67611435..67611436 [GRCh38]
Chr16:67645338..67645339 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.1129C>A (p.Arg377Ser) single nucleotide variant not provided [RCV000523911] Chr16:67620739 [GRCh38]
Chr16:67654642 [GRCh37]
Chr16:16q22.1
likely pathogenic|conflicting interpretations of pathogenicity
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) deletion Inborn genetic diseases [RCV000623884] Chr16:67611444..67611447 [GRCh38]
Chr16:67645347..67645350 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.782-2A>G single nucleotide variant Inborn genetic diseases [RCV000622589] Chr16:67611949 [GRCh38]
Chr16:67645852 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_006565.4(CTCF):c.313_314dup (p.Gln106fs) duplication not provided [RCV000598831] Chr16:67611144..67611145 [GRCh38]
Chr16:67645047..67645048 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001199945]|not provided [RCV000730247] Chr16:67616808 [GRCh38]
Chr16:67650711 [GRCh37]
Chr16:16q22.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) single nucleotide variant not provided [RCV000730410] Chr16:67620740 [GRCh38]
Chr16:67654643 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1 copy number loss See cases [RCV000449234] Chr16:67654566..68404073 [GRCh37]
Chr16:16q22.1
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_006565.4(CTCF):c.2000-3C>T single nucleotide variant not specified [RCV000435390] Chr16:67637685 [GRCh38]
Chr16:67671588 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1814del (p.Lys605fs) deletion not provided [RCV000485210] Chr16:67629509 [GRCh38]
Chr16:67663412 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.121C>G (p.Pro41Ala) single nucleotide variant not provided [RCV000903346]|not specified [RCV000503355] Chr16:67610953 [GRCh38]
Chr16:67644856 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1102C>A (p.Arg368Ser) single nucleotide variant not provided [RCV000523189] Chr16:67620712 [GRCh38]
Chr16:67654615 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_006565.4(CTCF):c.1134G>A (p.Pro378=) single nucleotide variant History of neurodevelopmental disorder [RCV000718928]|not specified [RCV000501920] Chr16:67620744 [GRCh38]
Chr16:67654647 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.*4C>T single nucleotide variant not specified [RCV000499776] Chr16:67637876 [GRCh38]
Chr16:67671779 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.1659G>A (p.Ala553=) single nucleotide variant not specified [RCV000502843] Chr16:67628510 [GRCh38]
Chr16:67662413 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001253429]|not provided [RCV000494182] Chr16:67616816 [GRCh38]
Chr16:67650719 [GRCh37]
Chr16:16q22.1
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
NM_006565.4(CTCF):c.75C>A (p.Tyr25Ter) single nucleotide variant Inborn genetic diseases [RCV000624812] Chr16:67610907 [GRCh38]
Chr16:67644810 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.1012G>T (p.Val338Phe) single nucleotide variant Inborn genetic diseases [RCV000622747] Chr16:67616804 [GRCh38]
Chr16:67650707 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.1456C>T (p.Gln486Ter) single nucleotide variant Inborn genetic diseases [RCV000623748] Chr16:67626653 [GRCh38]
Chr16:67660556 [GRCh37]
Chr16:16q22.1
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
NM_006565.4(CTCF):c.1916dup (p.Pro640fs) duplication not provided [RCV000658332] Chr16:67636767..67636768 [GRCh38]
Chr16:67670670..67670671 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.848G>A (p.Arg283His) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV000681644] Chr16:67612017 [GRCh38]
Chr16:67645920 [GRCh37]
Chr16:16q22.1
likely pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2
pathogenic
GRCh37/hg19 16q22.1(chr16:67629575-67812055)x1 copy number loss not provided [RCV000683825] Chr16:67629575..67812055 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_006565.4(CTCF):c.1098A>G (p.Leu366=) single nucleotide variant History of neurodevelopmental disorder [RCV000718869] Chr16:67620708 [GRCh38]
Chr16:67654611 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1509T>C (p.Ala503=) single nucleotide variant History of neurodevelopmental disorder [RCV000718599]|not provided [RCV000907425] Chr16:67626706 [GRCh38]
Chr16:67660609 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_006565.4(CTCF):c.2089G>A (p.Ala697Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000718927] Chr16:67637777 [GRCh38]
Chr16:67671680 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1314C>T (p.His438=) single nucleotide variant History of neurodevelopmental disorder [RCV000718988] Chr16:67621548 [GRCh38]
Chr16:67655451 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.84C>T (p.Arg28=) single nucleotide variant History of neurodevelopmental disorder [RCV000719170]|not provided [RCV000925361] Chr16:67610916 [GRCh38]
Chr16:67644819 [GRCh37]
Chr16:16q22.1
likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q22.1(chr16:67595600-67597006)x0 copy number loss not provided [RCV000739197] Chr16:67595600..67597006 [GRCh37]
Chr16:16q22.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001583242] Chr16:67629806 [GRCh38]
Chr16:67663709 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.969G>A (p.Lys323=) single nucleotide variant not provided [RCV000916252] Chr16:67616761 [GRCh38]
Chr16:67650664 [GRCh37]
Chr16:16q22.1
likely benign|conflicting interpretations of pathogenicity
NM_006565.4(CTCF):c.2000-196C>T single nucleotide variant not provided [RCV001568125] Chr16:67637492 [GRCh38]
Chr16:67671395 [GRCh37]
Chr16:16q22.1
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001678897] Chr16:67620688 [GRCh38]
Chr16:67654591 [GRCh37]
Chr16:16q22.1
benign
NM_006565.4(CTCF):c.375T>C (p.Pro125=) single nucleotide variant not provided [RCV000900665] Chr16:67611207 [GRCh38]
Chr16:67645110 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1570G>A (p.Ala524Thr) single nucleotide variant not provided [RCV000996286] Chr16:67628421 [GRCh38]
Chr16:67662324 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV000995749]|not specified [RCV001264541] Chr16:67616871 [GRCh38]
Chr16:67650774 [GRCh37]
Chr16:16q22.1
likely pathogenic|uncertain significance
NM_006565.4(CTCF):c.773_776del (p.Lys258fs) deletion Mental retardation, autosomal dominant 21 [RCV000767531] Chr16:67611604..67611607 [GRCh38]
Chr16:67645507..67645510 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.18C>T (p.Val6=) single nucleotide variant not provided [RCV000922454] Chr16:67610850 [GRCh38]
Chr16:67644753 [GRCh37]
Chr16:16q22.1
benign
NM_006565.4(CTCF):c.366G>A (p.Val122=) single nucleotide variant not provided [RCV000917814] Chr16:67611198 [GRCh38]
Chr16:67645101 [GRCh37]
Chr16:16q22.1
likely benign
GRCh37/hg19 16q22.1(chr16:67132790-68166320) copy number loss not provided [RCV000767617] Chr16:67132790..68166320 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.1219T>C (p.Tyr407His) single nucleotide variant not provided [RCV001090441] Chr16:67621453 [GRCh38]
Chr16:67655356 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.1962A>C (p.Arg654=) single nucleotide variant not provided [RCV000975955] Chr16:67636814 [GRCh38]
Chr16:67670717 [GRCh37]
Chr16:16q22.1
likely benign
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1
pathogenic
NM_006565.4(CTCF):c.1365C>G (p.His455Gln) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001002552] Chr16:67626562 [GRCh38]
Chr16:67660465 [GRCh37]
Chr16:16q22.1
likely pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_006565.4(CTCF):c.1168G>T (p.Asp390Tyr) single nucleotide variant not provided [RCV001212321] Chr16:67620778 [GRCh38]
Chr16:67654681 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.979T>C (p.Cys327Arg) single nucleotide variant CTCF-Related Disorder [RCV001249458] Chr16:67616771 [GRCh38]
Chr16:67650674 [GRCh37]
Chr16:16q22.1
not provided
NM_006565.4(CTCF):c.1990C>T (p.Gln664Ter) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV000989614] Chr16:67636842 [GRCh38]
Chr16:67670745 [GRCh37]
Chr16:16q22.1
pathogenic
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001581971] Chr16:67620739 [GRCh38]
Chr16:67654642 [GRCh37]
Chr16:16q22.1
pathogenic
null single nucleotide variant not provided [RCV001612032] Chr16:67629798 [GRCh38]
Chr16:67663701 [GRCh37]
Chr16:16q22.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) microsatellite not provided [RCV001688239] Chr16:67636569..67636570 [GRCh38]
Chr16:67670472..67670473 [GRCh37]
Chr16:16q22.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001658992] Chr16:67611509 [GRCh38]
Chr16:67645412 [GRCh37]
Chr16:16q22.1
pathogenic
null single nucleotide variant not provided [RCV001692524] Chr16:67637839 [GRCh38]
Chr16:67671742 [GRCh37]
Chr16:16q22.1
benign
NM_006565.4(CTCF):c.1087-136G>T single nucleotide variant not provided [RCV001562057] Chr16:67620561 [GRCh38]
Chr16:67654464 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1837+213C>T single nucleotide variant not provided [RCV001551363] Chr16:67629746 [GRCh38]
Chr16:67663649 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1837+238_1837+259del deletion not provided [RCV001551870] Chr16:67629747..67629768 [GRCh38]
Chr16:67663650..67663671 [GRCh37]
Chr16:16q22.1
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) duplication not provided [RCV001686142] Chr16:67636545..67636546 [GRCh38]
Chr16:67670448..67670449 [GRCh37]
Chr16:16q22.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001592697] Chr16:67616817 [GRCh38]
Chr16:67650720 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.952+141T>C single nucleotide variant not provided [RCV001547465] Chr16:67612262 [GRCh38]
Chr16:67646165 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1837+200G>A single nucleotide variant not provided [RCV001559858] Chr16:67629733 [GRCh38]
Chr16:67663636 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1207+234T>G single nucleotide variant not provided [RCV001539660] Chr16:67621051 [GRCh38]
Chr16:67654954 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1702-10T>C single nucleotide variant not provided [RCV000974541] Chr16:67629388 [GRCh38]
Chr16:67663291 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_006565.4(CTCF):c.2157G>A (p.Glu719=) single nucleotide variant not provided [RCV000918383] Chr16:67637845 [GRCh38]
Chr16:67671748 [GRCh37]
Chr16:16q22.1
benign
NM_006565.4(CTCF):c.732A>G (p.Lys244=) single nucleotide variant not provided [RCV000932601] Chr16:67611564 [GRCh38]
Chr16:67645467 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.708G>A (p.Leu236=) single nucleotide variant not provided [RCV000916851] Chr16:67611540 [GRCh38]
Chr16:67645443 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.303A>G (p.Val101=) single nucleotide variant not provided [RCV000885800] Chr16:67611135 [GRCh38]
Chr16:67645038 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1533C>A (p.Ile511=) single nucleotide variant not provided [RCV000914014] Chr16:67628384 [GRCh38]
Chr16:67662287 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln) single nucleotide variant not provided [RCV001570009] Chr16:67621577 [GRCh38]
Chr16:67655480 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.2088C>T (p.Pro696=) single nucleotide variant not provided [RCV001574819] Chr16:67637776 [GRCh38]
Chr16:67671679 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1208-98C>G single nucleotide variant not provided [RCV001559477] Chr16:67621344 [GRCh38]
Chr16:67655247 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1086+259G>A single nucleotide variant not provided [RCV001560230] Chr16:67617137 [GRCh38]
Chr16:67651040 [GRCh37]
Chr16:16q22.1
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001689243] Chr16:67637456 [GRCh38]
Chr16:67671359 [GRCh37]
Chr16:16q22.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001596631] Chr16:67621093 [GRCh38]
Chr16:67654996 [GRCh37]
Chr16:16q22.1
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001657673] Chr16:67620609 [GRCh38]
Chr16:67654512 [GRCh37]
Chr16:16q22.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) microsatellite not provided [RCV001608348] Chr16:67610661..67610663 [GRCh38]
Chr16:67644564..67644566 [GRCh37]
Chr16:16q22.1
benign
NM_006565.4(CTCF):c.1878G>A (p.Glu626=) single nucleotide variant not provided [RCV001536634] Chr16:67636730 [GRCh38]
Chr16:67670633 [GRCh37]
Chr16:16q22.1
benign
null single nucleotide variant not provided [RCV001674714] Chr16:67621230 [GRCh38]
Chr16:67655133 [GRCh37]
Chr16:16q22.1
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639156] Chr16:67636544 [GRCh38]
Chr16:67670447 [GRCh37]
Chr16:16q22.1
benign
null single nucleotide variant not provided [RCV001619475] Chr16:67610546 [GRCh38]
Chr16:67644449 [GRCh37]
Chr16:16q22.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) microsatellite not provided [RCV001648786] Chr16:67626284..67626290 [GRCh38]
Chr16:67660187..67660193 [GRCh37]
Chr16:16q22.1
benign
NM_006565.4(CTCF):c.1024C>G (p.Arg342Gly) single nucleotide variant not provided [RCV001532325] Chr16:67616816 [GRCh38]
Chr16:67650719 [GRCh37]
Chr16:16q22.1
likely pathogenic
null single nucleotide variant not provided [RCV001693982] Chr16:67629814 [GRCh38]
Chr16:67663717 [GRCh37]
Chr16:16q22.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001648058] Chr16:67610813 [GRCh38]
Chr16:67644716 [GRCh37]
Chr16:16q22.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001648297] Chr16:67637901 [GRCh38]
Chr16:67671804 [GRCh37]
Chr16:16q22.1
benign
null duplication not provided [RCV001692612] Chr16:67626452..67626453 [GRCh38]
Chr16:67660355..67660356 [GRCh37]
Chr16:16q22.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001586888] Chr16:67637944 [GRCh38]
Chr16:67671847 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.1623C>G (p.His541Gln) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001249436] Chr16:67628474 [GRCh38]
Chr16:67662377 [GRCh37]
Chr16:16q22.1
not provided
NM_006565.4(CTCF):c.958C>G (p.Arg320Gly) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001254150] Chr16:67616750 [GRCh38]
Chr16:67650653 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_006565.4(CTCF):c.136G>A (p.Asp46Asn) single nucleotide variant Intellectual disability [RCV001252212] Chr16:67610968 [GRCh38]
Chr16:67644871 [GRCh37]
Chr16:16q22.1
likely benign
NM_006565.4(CTCF):c.2139C>A (p.Asn713Lys) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001262922] Chr16:67637827 [GRCh38]
Chr16:67671730 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.2093A>G (p.Glu698Gly) single nucleotide variant Inborn genetic diseases [RCV001266212] Chr16:67637781 [GRCh38]
Chr16:67671684 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.1115C>T (p.Ser372Phe) single nucleotide variant Inborn genetic diseases [RCV001267519] Chr16:67620725 [GRCh38]
Chr16:67654628 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.1772C>T (p.Thr591Met) single nucleotide variant Inborn genetic diseases [RCV001267533] Chr16:67629468 [GRCh38]
Chr16:67663371 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.280C>T (p.Gln94Ter) single nucleotide variant Intellectual disability [RCV001260747] Chr16:67611112 [GRCh38]
Chr16:67645015 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_006565.4(CTCF):c.1409G>A (p.Arg470His) single nucleotide variant Inborn genetic diseases [RCV001267310] Chr16:67626606 [GRCh38]
Chr16:67660509 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.1057T>G (p.Cys353Gly) single nucleotide variant Intellectual disability [RCV001260748] Chr16:67616849 [GRCh38]
Chr16:67650752 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.313G>A (p.Glu105Lys) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001332782] Chr16:67611145 [GRCh38]
Chr16:67645048 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.535G>A (p.Glu179Lys) single nucleotide variant not provided [RCV001310331] Chr16:67611367 [GRCh38]
Chr16:67645270 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.798C>G (p.Phe266Leu) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001333553] Chr16:67611967 [GRCh38]
Chr16:67645870 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.778_781del (p.Lys260fs) microsatellite Mental retardation, autosomal dominant 21 [RCV001265578] Chr16:67611606..67611609 [GRCh38]
Chr16:67645509..67645512 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.1402_1415del (p.Lys467_Lys468insTer) deletion Inborn genetic diseases [RCV001267615] Chr16:67626598..67626611 [GRCh38]
Chr16:67660501..67660514 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs) indel Acute megakaryoblastic leukemia in down syndrome [RCV001293760] Chr16:67628491..67628501 [GRCh38]
Chr16:67662394..67662404 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_006565.4(CTCF):c.1004del (p.Gly335fs) deletion not provided [RCV001269725] Chr16:67616795 [GRCh38]
Chr16:67650698 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs) duplication Acute megakaryoblastic leukemia in down syndrome [RCV001293758] Chr16:67626698..67626699 [GRCh38]
Chr16:67660601..67660602 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_006565.4(CTCF):c.1745G>T (p.Gly582Val) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001333550] Chr16:67629441 [GRCh38]
Chr16:67663344 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.538_540dup (p.Gln180dup) duplication Mental retardation, autosomal dominant 21 [RCV001333551] Chr16:67611367..67611368 [GRCh38]
Chr16:67645270..67645271 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.638G>A (p.Arg213His) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001333552] Chr16:67611470 [GRCh38]
Chr16:67645373 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.881A>C (p.His294Pro) single nucleotide variant not provided [RCV001305144] Chr16:67612050 [GRCh38]
Chr16:67645953 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.1826C>A (p.Ser609Tyr) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001332781] Chr16:67629522 [GRCh38]
Chr16:67663425 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.329dup (p.Gly111fs) duplication Mental retardation, autosomal dominant 21 [RCV001293705] Chr16:67611160..67611161 [GRCh38]
Chr16:67645063..67645064 [GRCh37]
Chr16:16q22.1
pathogenic
NM_006565.4(CTCF):c.1119T>A (p.His373Gln) single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001375934] Chr16:67620729 [GRCh38]
Chr16:67654632 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_006565.4(CTCF):c.1555G>A (p.Gly519Arg) single nucleotide variant not provided [RCV001532326] Chr16:67628406 [GRCh38]
Chr16:67662309 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_006565.4(CTCF):c.782-1G>C single nucleotide variant Mental retardation, autosomal dominant 21 [RCV001376022] Chr16:67611950 [GRCh38]
Chr16:67645853 [GRCh37]
Chr16:16q22.1
likely pathogenic
null single nucleotide variant not provided [RCV001695375] Chr16:67629736 [GRCh38]
Chr16:67663639 [GRCh37]
Chr16:16q22.1
benign
null microsatellite not provided [RCV001674662] Chr16:67636569..67636570 [GRCh38]
Chr16:67670472..67670473 [GRCh37]
Chr16:16q22.1
benign
NM_006565.4(CTCF):c.1519-7G>A single nucleotide variant not provided [RCV001537106] Chr16:67628363 [GRCh38]
Chr16:67662266 [GRCh37]
Chr16:16q22.1
benign
NM_006565.4(CTCF):c.950_951dup (p.Gly318fs) microsatellite not provided [RCV001385309] Chr16:67612109..67612110 [GRCh38]
Chr16:67646012..67646013 [GRCh37]
Chr16:16q22.1
pathogenic|likely pathogenic
Single allele deletion Chromosome 16q22 deletion syndrome [RCV001523792] Chr16:67628846..67813408 [GRCh37]
Chr16:16q22.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13723 AgrOrtholog
COSMIC CTCF COSMIC
Ensembl Genes ENSG00000102974 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264010 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384707 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493495 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494358 UniProtKB/TrEMBL
  ENSP00000494408 UniProtKB/Swiss-Prot
  ENSP00000494443 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000494538 UniProtKB/Swiss-Prot
  ENSP00000495115 UniProtKB/TrEMBL
  ENSP00000495218 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000495348 UniProtKB/Swiss-Prot
  ENSP00000495923 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264010 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000401394 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000642819 UniProtKB/Swiss-Prot
  ENST00000642847 UniProtKB/TrEMBL
  ENST00000643892 UniProtKB/TrEMBL
  ENST00000644753 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000644852 UniProtKB/TrEMBL
  ENST00000645306 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000645699 UniProtKB/Swiss-Prot
  ENST00000646076 UniProtKB/Swiss-Prot
  ENST00000646771 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000102974 GTEx
HGNC ID HGNC:13723 ENTREZGENE
Human Proteome Map CTCF Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10664 UniProtKB/Swiss-Prot
NCBI Gene 10664 ENTREZGENE
OMIM 604167 OMIM
  615502 OMIM
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26998 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y595_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6C1_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6Z6_HUMAN UniProtKB/TrEMBL
  A0A2R8YFL0_HUMAN UniProtKB/TrEMBL
  CTCF_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B5MC38 UniProtKB/Swiss-Prot
  Q53XI7 UniProtKB/Swiss-Prot
  Q59EL8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 CTCF  CCCTC-binding factor    CCCTC-binding factor (zinc finger protein)  Symbol and/or name change 5135510 APPROVED