TCF20 (transcription factor 20) - Rat Genome Database

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Gene: TCF20 (transcription factor 20) Homo sapiens
Analyze
Symbol: TCF20
Name: transcription factor 20
RGD ID: 69146
HGNC Page HGNC
Description: Exhibits RNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Localizes to nuclear body.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AR1; DDVIBA; KIAA0292; nuclear factor SPBP; SPBP; SPRE-binding protein; stromelysin 1 PDGF-responsive element-binding protein; stromelysin-1 PDGF-responsive element-binding protein; stromelysin-1 platelet-derived growth factor-responsive element binding protein; TCF-20; transcription factor 20 (AR1)
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 Ensembl2242,160,013 - 42,343,616 (-)EnsemblGRCh38hg38GRCh38
GRCh382242,160,013 - 42,283,927 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,556,019 - 42,679,933 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,885,963 - 40,941,389 (-)NCBINCBI36hg18NCBI36
Build 342240,880,516 - 40,935,943NCBI
Celera2226,362,210 - 26,417,642 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,521,823 - 25,577,085 (-)NCBIHuRef
CHM1_12242,515,764 - 42,639,719 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nuclear body  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Aortic root aneurysm  (IAGP)
Aphasia  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Blepharophimosis  (IAGP)
Brachycephaly  (IAGP)
Broad hallux  (IAGP)
Broad thumb  (IAGP)
Bulbous nose  (IAGP)
Cafe-au-lait spot  (IAGP)
Clinodactyly of hallux  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital nystagmus  (IAGP)
Constipation  (IAGP)
Cryptorchidism  (IAGP)
Decreased body weight  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to walk  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Disproportionate tall stature  (IAGP)
Down-sloping shoulders  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Duane anomaly  (IAGP)
Epicanthus  (IAGP)
Feeding difficulties  (IAGP)
Frontal bossing  (IAGP)
Frontal cortical atrophy  (IAGP)
Frontal upsweep of hair  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dysplasia  (IAGP)
Hyperactivity  (IAGP)
Hypertelorism  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Impaired tandem gait  (IAGP)
Incisor macrodontia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Inverted nipples  (IAGP)
Joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Long face  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Myoclonus  (IAGP)
Myopia  (IAGP)
Narrow face  (IAGP)
Narrow mouth  (IAGP)
Nasal speech  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Obesity  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Open mouth  (IAGP)
Panic attack  (IAGP)
Papilledema  (IAGP)
Pectus excavatum  (IAGP)
Pes cavus  (IAGP)
Plagiocephaly  (IAGP)
Poor coordination  (IAGP)
Posteriorly rotated ears  (IAGP)
Precocious puberty  (IAGP)
Prominent fingertip pads  (IAGP)
Prominent forehead  (IAGP)
Ptosis  (IAGP)
Pulmonary artery dilatation  (IAGP)
Receptive language delay  (IAGP)
Relative macrocephaly  (IAGP)
Retinal atrophy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short hallux  (IAGP)
Short nose  (IAGP)
Sleep disturbance  (IAGP)
Small scrotum  (IAGP)
Smooth philtrum  (IAGP)
Spasticity  (IAGP)
Speech apraxia  (IAGP)
Strabismus  (IAGP)
Tall stature  (IAGP)
Tapered finger  (IAGP)
Tented upper lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:7760812   PMID:8663478   PMID:8889548   PMID:9179496   PMID:9730594   PMID:10591208   PMID:10849425   PMID:10995766   PMID:12477932   PMID:15302935   PMID:15592455   PMID:15831449  
PMID:17081983   PMID:17913746   PMID:18591388   PMID:18701471   PMID:18854154   PMID:18984664   PMID:19082521   PMID:19602701   PMID:19720844   PMID:20161779   PMID:20211142   PMID:20490451  
PMID:20509872   PMID:20564319   PMID:20816152   PMID:20936779   PMID:21873635   PMID:21935435   PMID:22081970   PMID:22586326   PMID:22658674   PMID:24205348   PMID:24416372   PMID:24711643  
PMID:24999758   PMID:25056061   PMID:25228304   PMID:25665578   PMID:26186194   PMID:26496610   PMID:26687479   PMID:26760575   PMID:27248496   PMID:27436265   PMID:28135719   PMID:28192407  
PMID:28514442   PMID:28611094   PMID:28794006   PMID:29117863   PMID:29180619   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29656893   PMID:30021884   PMID:30585729  
PMID:30739909   PMID:30804502   PMID:30819258   PMID:31586073   PMID:32416067  


Genomics

Comparative Map Data
TCF20
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2242,160,013 - 42,343,616 (-)EnsemblGRCh38hg38GRCh38
GRCh382242,160,013 - 42,283,927 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,556,019 - 42,679,933 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,885,963 - 40,941,389 (-)NCBINCBI36hg18NCBI36
Build 342240,880,516 - 40,935,943NCBI
Celera2226,362,210 - 26,417,642 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,521,823 - 25,577,085 (-)NCBIHuRef
CHM1_12242,515,764 - 42,639,719 (-)NCBICHM1_1
Tcf20
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391582,692,648 - 82,872,304 (-)NCBIGRCm39mm39
GRCm39 Ensembl1582,692,637 - 82,872,073 (-)Ensembl
GRCm381582,808,447 - 82,988,103 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1582,808,436 - 82,987,872 (-)EnsemblGRCm38mm10GRCm38
MGSCv371582,639,052 - 82,742,564 (-)NCBIGRCm37mm9NCBIm37
MGSCv361582,637,405 - 82,739,900 (-)NCBImm8
Celera1584,941,600 - 85,045,189 (-)NCBICelera
Cytogenetic Map15E1NCBI
Tcf20
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,953,449 - 114,104,166 (-)NCBI
Rnor_6.0 Ensembl7123,671,028 - 123,767,797 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07123,670,135 - 123,767,797 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07123,655,097 - 123,753,836 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,815,411 - 120,929,716 (-)NCBIRGSC3.4rn4RGSC3.4
Celera7110,269,528 - 110,366,780 (-)NCBICelera
Cytogenetic Map7q34NCBI
Tcf20
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541327,674,787 - 27,745,528 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541327,677,377 - 27,726,990 (-)NCBIChiLan1.0ChiLan1.0
TCF20
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12241,124,871 - 41,234,853 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2241,124,871 - 41,180,013 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02223,055,704 - 23,240,003 (-)NCBIMhudiblu_PPA_v0panPan3
TCF20
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,195,037 - 23,250,681 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,140,603 - 23,250,078 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,082,752 - 23,185,690 (+)NCBI
ROS_Cfam_1.01023,892,727 - 23,995,689 (+)NCBI
UMICH_Zoey_3.11023,609,985 - 23,712,911 (+)NCBI
UNSW_CanFamBas_1.01023,929,381 - 24,033,342 (+)NCBI
UU_Cfam_GSD_1.01024,105,187 - 24,208,139 (+)NCBI
Tcf20
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049456,622,083 - 6,799,194 (+)NCBI
SpeTri2.0NW_004936718180,145 - 233,037 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TCF20
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,346,473 - 6,528,053 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,430,217 - 6,534,948 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.253,819,137 - 3,835,324 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TCF20
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,693,036 - 24,877,150 (-)NCBI
ChlSab1.1 Ensembl1924,692,374 - 24,853,507 (-)Ensembl
Vero_WHO_p1.0NW_023666045100,518,678 - 100,706,000 (+)NCBI
Tcf20
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247526,446,414 - 6,537,238 (+)NCBI

Position Markers
RH66208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,597,786 - 42,597,948UniSTSGRCh37
Build 362240,927,730 - 40,927,892RGDNCBI36
Celera2226,403,983 - 26,404,145RGD
Cytogenetic Map22q13.3UniSTS
HuRef2225,563,472 - 25,563,634UniSTS
GeneMap99-GB4 RH Map22136.87UniSTS
SHGC-89209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,605,338 - 42,605,611UniSTSGRCh37
Build 362240,935,282 - 40,935,555RGDNCBI36
Celera2226,411,535 - 26,411,808RGD
Cytogenetic Map22q13.3UniSTS
HuRef2225,571,076 - 25,571,349UniSTS
RH47217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,556,249 - 42,556,368UniSTSGRCh37
Build 362240,886,193 - 40,886,312RGDNCBI36
Celera2226,362,440 - 26,362,559RGD
Cytogenetic Map22q13.3UniSTS
HuRef2225,522,053 - 25,522,172UniSTS
GeneMap99-GB4 RH Map22136.87UniSTS
SHGC-32817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,556,237 - 42,556,362UniSTSGRCh37
Build 362240,886,181 - 40,886,306RGDNCBI36
Celera2226,362,428 - 26,362,553RGD
Cytogenetic Map22q13.3UniSTS
HuRef2225,522,041 - 25,522,166UniSTS
Stanford-G3 RH Map221353.0UniSTS
GeneMap99-GB4 RH Map22137.62UniSTS
Whitehead-RH Map22157.4UniSTS
NCBI RH Map22209.1UniSTS
GeneMap99-G3 RH Map221353.0UniSTS
RH69793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,609,117 - 42,609,237UniSTSGRCh37
Build 362240,939,061 - 40,939,181RGDNCBI36
Celera2226,415,314 - 26,415,434RGD
Cytogenetic Map22q13.3UniSTS
HuRef2225,574,855 - 25,574,975UniSTS
GeneMap99-GB4 RH Map22136.44UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1320
Count of miRNA genes:657
Interacting mature miRNAs:744
Transcripts:ENST00000335626, ENST00000359486, ENST00000404876, ENST00000515426
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1346 897 1023 212 1070 111 2801 583 1571 254 1312 1445 115 478 1574 3
Low 1089 2079 703 410 873 353 1555 1608 2162 164 142 165 58 1 726 1214 1
Below cutoff 1 10 1 6 1 4 1 1 4 3 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB006630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC254561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC254638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC254788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC254995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC255556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC256292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY007595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU732753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX247885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF851355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335626   ⟹   ENSP00000335561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,161,056 - 42,215,440 (-)Ensembl
RefSeq Acc Id: ENST00000359486   ⟹   ENSP00000352463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,160,013 - 42,215,442 (-)Ensembl
RefSeq Acc Id: ENST00000404876   ⟹   ENSP00000385531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,161,098 - 42,210,208 (-)Ensembl
RefSeq Acc Id: ENST00000515426   ⟹   ENSP00000458948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,214,847 - 42,343,616 (-)Ensembl
RefSeq Acc Id: ENST00000675876   ⟹   ENSP00000502259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,211,513 - 42,318,239 (-)Ensembl
RefSeq Acc Id: ENST00000677622   ⟹   ENSP00000503828
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,160,013 - 42,270,653 (-)Ensembl
RefSeq Acc Id: ENST00000683686   ⟹   ENSP00000508272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,160,053 - 42,269,616 (-)Ensembl
RefSeq Acc Id: NM_001378418   ⟹   NP_001365347
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,160,013 - 42,270,653 (-)NCBI
RefSeq Acc Id: NM_005650   ⟹   NP_005641
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,160,013 - 42,283,927 (-)NCBI
GRCh372242,556,019 - 42,664,768 (-)NCBI
Build 362240,885,963 - 40,941,389 (-)NCBI Archive
HuRef2225,521,823 - 25,577,085 (-)NCBI
CHM1_12242,515,764 - 42,639,719 (-)NCBI
Sequence:
RefSeq Acc Id: NM_181492   ⟹   NP_852469
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,160,013 - 42,270,653 (-)NCBI
GRCh372242,556,019 - 42,664,768 (-)NCBI
Build 362240,885,963 - 40,941,389 (-)NCBI Archive
HuRef2225,521,823 - 25,577,085 (-)NCBI
CHM1_12242,515,764 - 42,571,145 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261722   ⟹   XP_005261779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,160,053 - 42,269,616 (-)NCBI
GRCh372242,556,019 - 42,664,768 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530353   ⟹   XP_011528655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,160,078 - 42,270,623 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_852469   ⟸   NM_181492
- Peptide Label: isoform 2
- UniProtKB: Q9UGU0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005641   ⟸   NM_005650
- Peptide Label: isoform 1
- UniProtKB: Q9UGU0 (UniProtKB/Swiss-Prot),   W5ZR30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005261779   ⟸   XM_005261722
- Peptide Label: isoform X1
- UniProtKB: Q9UGU0 (UniProtKB/Swiss-Prot),   W5ZR30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528655   ⟸   XM_011530353
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001365347   ⟸   NM_001378418
- Peptide Label: isoform 1
RefSeq Acc Id: ENSP00000352463   ⟸   ENST00000359486
RefSeq Acc Id: ENSP00000335561   ⟸   ENST00000335626
RefSeq Acc Id: ENSP00000385531   ⟸   ENST00000404876
RefSeq Acc Id: ENSP00000458948   ⟸   ENST00000515426
RefSeq Acc Id: ENSP00000502259   ⟸   ENST00000675876
RefSeq Acc Id: ENSP00000503828   ⟸   ENST00000677622
RefSeq Acc Id: ENSP00000508272   ⟸   ENST00000683686
Protein Domains
PHD-type


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001378418.1(TCF20):c.3967C>T (p.Pro1323Ser) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001331449] Chr22:42211339 [GRCh38]
Chr22:42607345 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_005650.2(TCF20):c.5054C>T (p.Ser1685Leu) single nucleotide variant Malignant melanoma [RCV000072985] Chr22:42210252 [GRCh38]
Chr22:42606258 [GRCh37]
Chr22:40936202 [NCBI36]
Chr22:22q13.2
not provided
NM_005650.2(TCF20):c.4682C>T (p.Pro1561Leu) single nucleotide variant Malignant melanoma [RCV000063921] Chr22:42210624 [GRCh38]
Chr22:42606630 [GRCh37]
Chr22:40936574 [NCBI36]
Chr22:22q13.2
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
NM_001378418.1(TCF20):c.3943G>A (p.Asp1315Asn) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001291703] Chr22:42211363 [GRCh38]
Chr22:42607369 [GRCh37]
Chr22:22q13.2
uncertain significance
Single allele deletion Intellectual disability [RCV001293368] Chr22:42356886..43684002 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001378418.1(TCF20):c.256G>A (p.Ala86Thr) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001291636] Chr22:42215050 [GRCh38]
Chr22:42611056 [GRCh37]
Chr22:22q13.2
uncertain significance
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 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31
pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 copy number loss See cases [RCV000136528] Chr22:41645339..42565798 [GRCh38]
Chr22:42041343..42961804 [GRCh37]
Chr22:40371289..41291748 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
NM_005650.3(TCF20):c.4943del (p.Thr1648fs) deletion not provided [RCV000755201] Chr22:42210363 [GRCh38]
Chr22:42606369 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_005650.3(TCF20):c.5383_5384TG[1] (p.Cys1795fs) microsatellite not provided [RCV000209874] Chr22:42209920..42209921 [GRCh38]
Chr22:42605926..42605927 [GRCh37]
Chr22:22q13.2
pathogenic|uncertain significance
NM_005650.3(TCF20):c.2508_2511GACT[1] (p.Asp838fs) microsatellite not provided [RCV000755202] Chr22:42212791..42212794 [GRCh38]
Chr22:42608797..42608800 [GRCh37]
Chr22:22q13.2
likely 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 22q13.2(chr22:42207144-42776457)x1 copy number loss See cases [RCV000240146] Chr22:42207144..42776457 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_005650.3(TCF20):c.2224C>T (p.Arg742Ter) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV000778086]|Inborn genetic diseases [RCV000622608]|Neurodevelopmental abnormality [RCV000782113]|not provided [RCV000760486] Chr22:42213082 [GRCh38]
Chr22:42609088 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.1707del (p.Arg570fs) deletion Neurodevelopmental abnormality [RCV000782112]|not provided [RCV000598665] Chr22:42213599 [GRCh38]
Chr22:42609605 [GRCh37]
Chr22:22q13.2
pathogenic|uncertain significance
NM_005650.3(TCF20):c.5352del (p.Arg1785fs) deletion not provided [RCV000656271] Chr22:42209954 [GRCh38]
Chr22:42605960 [GRCh37]
Chr22:22q13.2
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 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_005650.3(TCF20):c.5069dup (p.Pro1692fs) duplication Inborn genetic diseases [RCV000622597] Chr22:42210236..42210237 [GRCh38]
Chr22:42606242..42606243 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.2685del (p.Arg896fs) deletion Inborn genetic diseases [RCV000623576] Chr22:42212621 [GRCh38]
Chr22:42608627 [GRCh37]
Chr22:22q13.2
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
NM_005650.3(TCF20):c.4368del (p.Gly1457fs) deletion Inborn genetic diseases [RCV000623436] Chr22:42210938 [GRCh38]
Chr22:42606944 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_005650.3(TCF20):c.5725C>T (p.His1909Tyr) single nucleotide variant Autistic behavior [RCV000721924]|Neurodevelopmental abnormality [RCV000782120] Chr22:42179633 [GRCh38]
Chr22:42575639 [GRCh37]
Chr22:22q13.2
pathogenic|likely 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 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42513761-42586073)x3 copy number gain not provided [RCV000741998] Chr22:42513761..42586073 [GRCh37]
Chr22:22q13.2
benign
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
NM_005650.3(TCF20):c.213C>T (p.Ser71=) single nucleotide variant not provided [RCV000916128] Chr22:42215093 [GRCh38]
Chr22:42611099 [GRCh37]
Chr22:22q13.2
likely benign
NM_005650.3(TCF20):c.3760dup (p.Arg1254fs) duplication Intellectual disability [RCV000760175] Chr22:42211545..42211546 [GRCh38]
Chr22:42607551..42607552 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.2883C>G (p.Tyr961Ter) single nucleotide variant Neurodevelopmental abnormality [RCV000782117]|not provided [RCV000760491] Chr22:42212423 [GRCh38]
Chr22:42608429 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.2155C>T (p.Arg719Ter) single nucleotide variant Neurodevelopmental abnormality [RCV000782114]|not provided [RCV000760492] Chr22:42213151 [GRCh38]
Chr22:42609157 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.1960C>T (p.Gln654Ter) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV000778085]|Neurodevelopmental abnormality [RCV000782111]|not provided [RCV000760493] Chr22:42213346 [GRCh38]
Chr22:42609352 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.697C>T (p.Gln233Ter) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV000778084]|Neurodevelopmental abnormality [RCV000782108]|not provided [RCV000760530] Chr22:42214609 [GRCh38]
Chr22:42610615 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.4786C>T (p.Arg1596Ter) single nucleotide variant Neurodevelopmental abnormality [RCV000782119]|not provided [RCV000760531] Chr22:42210520 [GRCh38]
Chr22:42606526 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.354T>C (p.Tyr118=) single nucleotide variant not provided [RCV000884375] Chr22:42214952 [GRCh38]
Chr22:42610958 [GRCh37]
Chr22:22q13.2
benign
NM_005650.3(TCF20):c.2940G>A (p.Pro980=) single nucleotide variant not provided [RCV000902797] Chr22:42212366 [GRCh38]
Chr22:42608372 [GRCh37]
Chr22:22q13.2
likely benign
NM_005650.3(TCF20):c.2797T>C (p.Phe933Leu) single nucleotide variant not provided [RCV000881090] Chr22:42212509 [GRCh38]
Chr22:42608515 [GRCh37]
Chr22:22q13.2
benign
NM_005650.3(TCF20):c.5825C>A (p.Pro1942His) single nucleotide variant not provided [RCV000899940] Chr22:42168711 [GRCh38]
Chr22:42564717 [GRCh37]
Chr22:22q13.2
benign
NM_005650.3(TCF20):c.1467C>T (p.Pro489=) single nucleotide variant not provided [RCV000948137] Chr22:42213839 [GRCh38]
Chr22:42609845 [GRCh37]
Chr22:22q13.2
benign
NM_005650.3(TCF20):c.3495G>A (p.Met1165Ile) single nucleotide variant not provided [RCV000969751] Chr22:42211811 [GRCh38]
Chr22:42607817 [GRCh37]
Chr22:22q13.2
benign
NM_005650.3(TCF20):c.1056T>C (p.Val352=) single nucleotide variant not provided [RCV000906839] Chr22:42214250 [GRCh38]
Chr22:42610256 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_001378418.1(TCF20):c.1249C>T (p.Gln417Ter) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001007901] Chr22:42214057 [GRCh38]
Chr22:42610063 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.3518del (p.Lys1173fs) deletion Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV000778078] Chr22:42211788 [GRCh38]
Chr22:42607794 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.310_313dup (p.Gln105fs) duplication Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV000778081] Chr22:42214992..42214993 [GRCh38]
Chr22:42610998..42610999 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.3837del (p.Asp1280fs) deletion Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV000778080] Chr22:42211469 [GRCh38]
Chr22:42607475 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.594dup (p.Gly199fs) duplication Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV000778082] Chr22:42214711..42214712 [GRCh38]
Chr22:42610717..42610718 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.932_933del (p.Gln311fs) deletion Neurodevelopmental abnormality [RCV000782107]|not provided [RCV001008823] Chr22:42214373..42214374 [GRCh38]
Chr22:42610379..42610380 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.364dup (p.Gln122fs) duplication Neurodevelopmental abnormality [RCV000782110]|not provided [RCV001008154] Chr22:42214941..42214942 [GRCh38]
Chr22:42610947..42610948 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.955C>T (p.Gln319Ter) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV000778079] Chr22:42214351 [GRCh38]
Chr22:42610357 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.3801_3802GA[1] (p.Arg1268fs) microsatellite Intellectual disability [RCV000850207]|TCF20-related condition [RCV000770764] Chr22:42211502..42211503 [GRCh38]
Chr22:42607508..42607509 [GRCh37]
Chr22:22q13.2
pathogenic|likely pathogenic
NM_005650.3(TCF20):c.3605dup (p.Pro1203fs) duplication Pectus excavatum [RCV000770765] Chr22:42211700..42211701 [GRCh38]
Chr22:42607706..42607707 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.1810_1811del (p.Val604fs) deletion Autistic disorder of childhood onset [RCV000770767] Chr22:42213495..42213496 [GRCh38]
Chr22:42609501..42609502 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.441C>T (p.Gly147=) single nucleotide variant not provided [RCV000973628] Chr22:42214865 [GRCh38]
Chr22:42610871 [GRCh37]
Chr22:22q13.2
benign
NM_005650.3(TCF20):c.2778G>A (p.Gly926=) single nucleotide variant not provided [RCV000938264] Chr22:42212528 [GRCh38]
Chr22:42608534 [GRCh37]
Chr22:22q13.2
likely benign
NM_005650.3(TCF20):c.4407A>G (p.Ser1469=) single nucleotide variant not provided [RCV000959800] Chr22:42210899 [GRCh38]
Chr22:42606905 [GRCh37]
Chr22:22q13.2
benign
NM_005650.3(TCF20):c.204G>A (p.Ala68=) single nucleotide variant not provided [RCV000961762] Chr22:42215102 [GRCh38]
Chr22:42611108 [GRCh37]
Chr22:22q13.2
benign
NM_005650.3(TCF20):c.2594C>G (p.Ser865Ter) single nucleotide variant Autistic disorder of childhood onset [RCV000770766] Chr22:42212712 [GRCh38]
Chr22:42608718 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.1520del (p.Pro507fs) deletion Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV000778083] Chr22:42213786 [GRCh38]
Chr22:42609792 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss 22q13.3 deletion syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_005650.3(TCF20):c.4670C>T (p.Pro1557Leu) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV000990461] Chr22:42210636 [GRCh38]
Chr22:42606642 [GRCh37]
Chr22:22q13.2
benign
NM_005650.3(TCF20):c.622del (p.Leu208fs) deletion Neurodevelopmental abnormality [RCV000782109]|not provided [RCV001008160] Chr22:42214684 [GRCh38]
Chr22:42610690 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.4739_4740AG[1] (p.Arg1581fs) microsatellite Neurodevelopmental abnormality [RCV000782115]|not provided [RCV001008171] Chr22:42210564..42210565 [GRCh38]
Chr22:42606570..42606571 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.2088_2089del (p.Glu697fs) deletion Neurodevelopmental abnormality [RCV000782106]|not provided [RCV001008843] Chr22:42213217..42213218 [GRCh38]
Chr22:42609223..42609224 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.3486dup (p.Cys1163fs) duplication Neurodevelopmental abnormality [RCV000782116]|not provided [RCV001008830] Chr22:42211819..42211820 [GRCh38]
Chr22:42607825..42607826 [GRCh37]
Chr22:22q13.2
pathogenic
NM_005650.3(TCF20):c.147C>T (p.Gly49=) single nucleotide variant not provided [RCV000917423] Chr22:42215159 [GRCh38]
Chr22:42611165 [GRCh37]
Chr22:22q13.2
likely benign
NM_005650.3(TCF20):c.4774C>T (p.Gln1592Ter) single nucleotide variant Hypotelorism [RCV000786856] Chr22:42210532 [GRCh38]
Chr22:42606538 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001378418.1(TCF20):c.3004del (p.Arg1002fs) deletion not provided [RCV001008613] Chr22:42212302 [GRCh38]
Chr22:42608308 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_001378418.1(TCF20):c.169G>A (p.Gly57Ser) single nucleotide variant not provided [RCV001226773] Chr22:42215137 [GRCh38]
Chr22:42611143 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_005650.3(TCF20):c.4441_4444dup (p.Ser1482fs) duplication Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV000995663] Chr22:42210861..42210862 [GRCh38]
Chr22:42606867..42606868 [GRCh37]
Chr22:22q13.2
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
NM_005650.3(TCF20):c.3974G>A (p.Ser1325Asn) single nucleotide variant not provided [RCV000887214] Chr22:42211332 [GRCh38]
Chr22:42607338 [GRCh37]
Chr22:22q13.2
benign
NM_181492.2(TCF20):c.719_721CCT[6] (p.Ser246del) microsatellite not provided [RCV000964440] Chr22:42214567..42214569 [GRCh38]
Chr22:42610573..42610575 [GRCh37]
Chr22:22q13.2
likely benign
NM_005650.3(TCF20):c.2661C>T (p.His887=) single nucleotide variant not provided [RCV000903994] Chr22:42212645 [GRCh38]
Chr22:42608651 [GRCh37]
Chr22:22q13.2
benign
NM_001378418.1(TCF20):c.278C>T (p.Ala93Val) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001170007] Chr22:42215028 [GRCh38]
Chr22:42611034 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.4115G>A (p.Ser1372Asn) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001196170] Chr22:42211191 [GRCh38]
Chr22:42607197 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.1740G>T (p.Glu580Asp) single nucleotide variant not provided [RCV001200657] Chr22:42213566 [GRCh38]
Chr22:42609572 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.869dup (p.Tyr290Ter) duplication not provided [RCV001008038] Chr22:42214436..42214437 [GRCh38]
Chr22:42610442..42610443 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001378418.1(TCF20):c.2916T>G (p.His972Gln) single nucleotide variant not provided [RCV001200656] Chr22:42212390 [GRCh38]
Chr22:42608396 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.2200G>T (p.Gly734Ter) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001254046] Chr22:42213106 [GRCh38]
Chr22:42609112 [GRCh37]
Chr22:22q13.2
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
NM_001378418.1(TCF20):c.4982_4985del (p.Val1661fs) deletion Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001252365] Chr22:42210321..42210324 [GRCh38]
Chr22:42606327..42606330 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001378418.1(TCF20):c.5328G>T (p.Glu1776Asp) single nucleotide variant Inborn genetic diseases [RCV001267288] Chr22:42209978 [GRCh38]
Chr22:42605984 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.5387G>A (p.Gly1796Asp) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001257123] Chr22:42209919 [GRCh38]
Chr22:42605925 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.4237_4241delinsCAGCT (p.Ala1413_Ser1414delinsGlnLeu) indel Autistic behavior [RCV001255123] Chr22:42211065..42211069 [GRCh38]
Chr22:42607071..42607075 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.3125G>C (p.Arg1042Thr) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001262578] Chr22:42212181 [GRCh38]
Chr22:42608187 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.2918A>T (p.Asp973Val) single nucleotide variant Inborn genetic diseases [RCV001267125] Chr22:42212388 [GRCh38]
Chr22:42608394 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.2707A>G (p.Thr903Ala) single nucleotide variant Inborn genetic diseases [RCV001266909] Chr22:42212599 [GRCh38]
Chr22:42608605 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.2786_2787del (p.Lys929fs) deletion Inborn genetic diseases [RCV001267107]|not provided [RCV001268918] Chr22:42212519..42212520 [GRCh38]
Chr22:42608525..42608526 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001378418.1(TCF20):c.5087_5088del (p.Glu1696fs) microsatellite Neurodevelopmental abnormality [RCV001264621] Chr22:42210218..42210219 [GRCh38]
Chr22:42606224..42606225 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001378418.1(TCF20):c.5719del (p.Arg1907fs) deletion Inborn genetic diseases [RCV001267621] Chr22:42179639 [GRCh38]
Chr22:42575645 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001378418.1(TCF20):c.5757G>T (p.Leu1919Phe) single nucleotide variant Inborn genetic diseases [RCV001266213] Chr22:42169889 [GRCh38]
Chr22:42565895 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.221C>G (p.Ser74Cys) single nucleotide variant Inborn genetic diseases [RCV001266519] Chr22:42215085 [GRCh38]
Chr22:42611091 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.5187T>G (p.Tyr1729Ter) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001261963] Chr22:42210119 [GRCh38]
Chr22:42606125 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001378418.1(TCF20):c.4016C>T (p.Thr1339Ile) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001331450] Chr22:42211290 [GRCh38]
Chr22:42607296 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.1246C>G (p.Pro416Ala) single nucleotide variant not provided [RCV001310813] Chr22:42214060 [GRCh38]
Chr22:42610066 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001378418.1(TCF20):c.4330A>G (p.Lys1444Glu) single nucleotide variant Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001331451] Chr22:42210976 [GRCh38]
Chr22:42606982 [GRCh37]
Chr22:22q13.2
uncertain significance
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11631 AgrOrtholog
COSMIC TCF20 COSMIC
Ensembl Genes ENSG00000100207 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000262024 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276461 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000280467 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000281897 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000282892 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000283026 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000283681 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000335561 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000352463 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385531 UniProtKB/TrEMBL
  ENSP00000458948 UniProtKB/TrEMBL
  ENSP00000459947 UniProtKB/TrEMBL
  ENSP00000460328 UniProtKB/Swiss-Prot
  ENSP00000460587 UniProtKB/Swiss-Prot
  ENSP00000475040 UniProtKB/TrEMBL
  ENSP00000478503 UniProtKB/Swiss-Prot
  ENSP00000483199 UniProtKB/Swiss-Prot
  ENSP00000485846 UniProtKB/TrEMBL
  ENSP00000486508 UniProtKB/TrEMBL
  ENSP00000486940 UniProtKB/Swiss-Prot
  ENSP00000487152 UniProtKB/TrEMBL
  ENSP00000487254 UniProtKB/TrEMBL
  ENSP00000487259 UniProtKB/TrEMBL
  ENSP00000487296 UniProtKB/Swiss-Prot
  ENSP00000487302 UniProtKB/Swiss-Prot
  ENSP00000487465 UniProtKB/Swiss-Prot
  ENSP00000487576 UniProtKB/TrEMBL
  ENSP00000488932 UniProtKB/TrEMBL
  ENSP00000488943 UniProtKB/TrEMBL
  ENSP00000489006 UniProtKB/Swiss-Prot
  ENSP00000489099 UniProtKB/Swiss-Prot
  ENSP00000489215 UniProtKB/Swiss-Prot
  ENSP00000489383 UniProtKB/TrEMBL
  ENSP00000489477 UniProtKB/TrEMBL
  ENSP00000489614 UniProtKB/Swiss-Prot
  ENSP00000489734 UniProtKB/Swiss-Prot
  ENSP00000489833 UniProtKB/TrEMBL
  ENSP00000490302 UniProtKB/TrEMBL
  ENSP00000490305 UniProtKB/Swiss-Prot
  ENSP00000502259 UniProtKB/TrEMBL
  ENSP00000503828 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000335626 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000359486 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000404876 UniProtKB/TrEMBL
  ENST00000515426 UniProtKB/TrEMBL
  ENST00000574164 UniProtKB/TrEMBL
  ENST00000574269 UniProtKB/TrEMBL
  ENST00000574943 UniProtKB/Swiss-Prot
  ENST00000576946 UniProtKB/Swiss-Prot
  ENST00000619505 UniProtKB/Swiss-Prot
  ENST00000621408 UniProtKB/Swiss-Prot
  ENST00000626486 UniProtKB/Swiss-Prot
  ENST00000626726 UniProtKB/Swiss-Prot
  ENST00000626821 UniProtKB/TrEMBL
  ENST00000627133 UniProtKB/TrEMBL
  ENST00000628031 UniProtKB/TrEMBL
  ENST00000628774 UniProtKB/Swiss-Prot
  ENST00000629538 UniProtKB/Swiss-Prot
  ENST00000630248 UniProtKB/TrEMBL
  ENST00000630841 UniProtKB/TrEMBL
  ENST00000631350 UniProtKB/TrEMBL
  ENST00000634489 UniProtKB/Swiss-Prot
  ENST00000634616 UniProtKB/Swiss-Prot
  ENST00000634848 UniProtKB/TrEMBL
  ENST00000635146 UniProtKB/Swiss-Prot
  ENST00000635187 UniProtKB/TrEMBL
  ENST00000635421 UniProtKB/Swiss-Prot
  ENST00000635601 UniProtKB/TrEMBL
  ENST00000635629 UniProtKB/TrEMBL
  ENST00000636542 UniProtKB/TrEMBL
  ENST00000636799 UniProtKB/Swiss-Prot
  ENST00000637246 UniProtKB/TrEMBL
  ENST00000637355 UniProtKB/Swiss-Prot
  ENST00000675876 UniProtKB/TrEMBL
  ENST00000677622 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100207 GTEx
  ENSG00000262024 GTEx
  ENSG00000276461 GTEx
  ENSG00000280467 GTEx
  ENSG00000281897 GTEx
  ENSG00000282892 GTEx
  ENSG00000283026 GTEx
  ENSG00000283681 GTEx
HGNC ID HGNC:11631 ENTREZGENE
Human Proteome Map TCF20 Human Proteome Map
InterPro EPHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCF-20_ePHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6942 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6942 ENTREZGENE
OMIM 603107 OMIM
  618430 OMIM
PharmGKB PA36386 PharmGKB
PROSITE EPHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6Q8PH68_HUMAN UniProtKB/TrEMBL
  A9JX13_HUMAN UniProtKB/TrEMBL
  I3L1M7_HUMAN UniProtKB/TrEMBL
  Q9UGU0 ENTREZGENE, UniProtKB/Swiss-Prot
  W5ZR30 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A9JX12 UniProtKB/Swiss-Prot
  O14528 UniProtKB/Swiss-Prot
  Q13078 UniProtKB/Swiss-Prot
  Q4V353 UniProtKB/Swiss-Prot
  Q9H4M0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-12 TCF20  transcription factor 20    transcription factor 20 (AR1)  Symbol and/or name change 5135510 APPROVED
2011-08-17 TCF20  transcription factor 20 (AR1)  TCF20  transcription factor 20 (AR1)  Symbol and/or name change 5135510 APPROVED