TBC1D14 (TBC1 domain family member 14) - Rat Genome Database

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Gene: TBC1D14 (TBC1 domain family member 14) Homo sapiens
Analyze
Symbol: TBC1D14
Name: TBC1 domain family member 14
RGD ID: 1320638
HGNC Page HGNC
Description: Enables protein kinase binding activity. Involved in negative regulation of autophagy; recycling endosome to Golgi transport; and regulation of autophagosome assembly. Located in several cellular components, including Golgi apparatus; autophagosome; and recycling endosome; INTERACTS WITH 2-hydroxypropanoic acid; 2-methylcholine; acrolein.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ32400; KIAA1322; TBC1 domain family, member 14
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 Ensembl46,909,242 - 7,033,118 (+)EnsemblGRCh38hg38GRCh38
GRCh3846,909,444 - 7,033,114 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3746,911,193 - 7,034,841 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3646,962,473 - 7,085,739 (+)NCBINCBI36hg18NCBI36
Build 3447,029,643 - 7,152,911NCBI
Celera46,813,220 - 6,939,146 (+)NCBI
Cytogenetic Map4p16.1NCBI
HuRef46,838,793 - 6,962,071 (+)NCBIHuRef
CHM1_146,909,420 - 7,033,430 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:10718198   PMID:14702039   PMID:15489334   PMID:16344560   PMID:17562788   PMID:17646400   PMID:18186464   PMID:19077034   PMID:20379614   PMID:21873635   PMID:21900206   PMID:22613832  
PMID:23382691   PMID:26496610   PMID:26673895   PMID:26711178   PMID:27609421   PMID:28514442   PMID:28611215   PMID:29507755   PMID:29676528   PMID:30021884   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
TBC1D14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl46,909,242 - 7,033,118 (+)EnsemblGRCh38hg38GRCh38
GRCh3846,909,444 - 7,033,114 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3746,911,193 - 7,034,841 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3646,962,473 - 7,085,739 (+)NCBINCBI36hg18NCBI36
Build 3447,029,643 - 7,152,911NCBI
Celera46,813,220 - 6,939,146 (+)NCBI
Cytogenetic Map4p16.1NCBI
HuRef46,838,793 - 6,962,071 (+)NCBIHuRef
CHM1_146,909,420 - 7,033,430 (+)NCBICHM1_1
Tbc1d14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39536,647,948 - 36,743,611 (-)NCBIGRCm39mm39
GRCm39 Ensembl536,647,948 - 36,750,620 (-)Ensembl
GRCm38536,490,604 - 36,586,271 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl536,490,604 - 36,593,276 (-)EnsemblGRCm38mm10GRCm38
MGSCv37536,833,253 - 36,928,875 (-)NCBIGRCm37mm9NCBIm37
MGSCv36536,807,699 - 36,899,468 (-)NCBImm8
Celera533,971,593 - 34,068,555 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map519.15NCBI
Tbc1d14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21474,172,652 - 74,272,182 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1474,172,664 - 74,272,183 (+)Ensembl
Rnor_6.01479,172,272 - 79,438,765 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1479,205,466 - 79,438,764 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01478,978,024 - 79,077,775 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41479,753,480 - 79,852,987 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11479,818,510 - 79,855,377 (+)NCBI
Celera1473,111,044 - 73,210,392 (+)NCBICelera
Cytogenetic Map14q21NCBI
Tbc1d14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555143,485,841 - 3,567,377 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555143,485,975 - 3,553,840 (-)NCBIChiLan1.0ChiLan1.0
TBC1D14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.146,978,791 - 7,100,472 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl46,978,787 - 7,100,472 (+)Ensemblpanpan1.1panPan2
TBC1D14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1358,992,743 - 59,097,581 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl358,926,237 - 59,097,621 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha361,639,679 - 61,744,462 (+)NCBI
ROS_Cfam_1.0359,464,257 - 59,569,212 (+)NCBI
UMICH_Zoey_3.1358,961,586 - 59,066,513 (+)NCBI
UNSW_CanFamBas_1.0359,163,570 - 59,268,428 (+)NCBI
UU_Cfam_GSD_1.0359,517,757 - 59,622,733 (+)NCBI
Tbc1d14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528565,059,358 - 65,158,292 (+)NCBI
SpeTri2.0NW_00493647718,761,034 - 18,864,578 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBC1D14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.183,833,314 - 3,918,783 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.283,279,017 - 3,375,802 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TBC1D14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12743,028,552 - 43,147,870 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2743,029,135 - 43,146,474 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604789,878,251 - 90,002,772 (+)NCBIVero_WHO_p1.0
Tbc1d14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475523,164,315 - 23,255,023 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D4S394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,959,896 - 6,960,087UniSTSGRCh37
GRCh3746,960,028 - 6,960,224UniSTSGRCh37
Build 3647,010,929 - 7,011,125RGDNCBI36
Celera46,863,970 - 6,864,166RGD
Celera46,863,838 - 6,864,029UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map4p15.3UniSTS
HuRef46,887,342 - 6,887,538UniSTS
HuRef46,887,210 - 6,887,401UniSTS
Marshfield Genetic Map416.01UniSTS
Marshfield Genetic Map416.01RGD
Genethon Genetic Map414.5UniSTS
TNG Radiation Hybrid Map44022.0UniSTS
deCODE Assembly Map414.79UniSTS
GeneMap99-GB4 RH Map447.76UniSTS
Whitehead-RH Map441.9UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-24105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3747,034,523 - 7,034,654UniSTSGRCh37
Build 3647,085,424 - 7,085,555RGDNCBI36
Celera46,938,824 - 6,938,955RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,961,749 - 6,961,880UniSTS
TNG Radiation Hybrid Map44183.0UniSTS
TNG Radiation Hybrid Map44187.0UniSTS
D4S2715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3747,034,270 - 7,034,478UniSTSGRCh37
Build 3647,085,171 - 7,085,379RGDNCBI36
Celera46,938,571 - 6,938,779RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,961,496 - 6,961,704UniSTS
D7S2827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3747,034,523 - 7,034,798UniSTSGRCh37
Build 3647,085,424 - 7,085,699RGDNCBI36
Celera46,938,824 - 6,939,099RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,961,749 - 6,962,024UniSTS
SHGC-59564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3747,034,470 - 7,034,634UniSTSGRCh37
Build 3647,085,371 - 7,085,535RGDNCBI36
Celera46,938,771 - 6,938,935RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,961,696 - 6,961,860UniSTS
TNG Radiation Hybrid Map44183.0UniSTS
GeneMap99-GB4 RH Map448.06UniSTS
Whitehead-RH Map440.3UniSTS
A008M37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,985,896 - 6,986,032UniSTSGRCh37
Build 3647,036,797 - 7,036,933RGDNCBI36
Celera46,890,244 - 6,890,380RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,913,203 - 6,913,339UniSTS
GeneMap99-GB4 RH Map7646.23UniSTS
SHGC-67343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,976,350 - 6,976,531UniSTSGRCh37
Build 3647,027,251 - 7,027,432RGDNCBI36
Celera46,880,309 - 6,880,490RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,903,680 - 6,903,861UniSTS
TNG Radiation Hybrid Map44014.0UniSTS
GeneMap99-GB4 RH Map447.86UniSTS
Cda0og07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371068,268,002 - 68,268,182UniSTSGRCh37
GRCh3747,034,537 - 7,034,717UniSTSGRCh37
Build 3647,085,438 - 7,085,618RGDNCBI36
Celera1061,541,916 - 61,542,096UniSTS
Celera46,938,838 - 6,939,018RGD
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map4p16.1UniSTS
HuRef1062,266,399 - 62,266,579UniSTS
HuRef46,961,763 - 6,961,943UniSTS
TNG Radiation Hybrid Map44115.0UniSTS
RH91338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,987,911 - 6,988,045UniSTSGRCh37
Build 3647,038,812 - 7,038,946RGDNCBI36
Celera46,892,263 - 6,892,397RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,915,222 - 6,915,356UniSTS
GeneMap99-GB4 RH Map447.86UniSTS
SHGC-24383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,985,781 - 6,985,904UniSTSGRCh37
Build 3647,036,682 - 7,036,805RGDNCBI36
Celera46,890,129 - 6,890,252RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,913,088 - 6,913,211UniSTS
TNG Radiation Hybrid Map44022.0UniSTS
GeneMap99-G3 RH Map4473.0UniSTS
G33506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,985,781 - 6,986,005UniSTSGRCh37
Build 3647,036,682 - 7,036,906RGDNCBI36
Celera46,890,129 - 6,890,353RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,913,088 - 6,913,312UniSTS
STS-D51046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3747,034,569 - 7,034,732UniSTSGRCh37
Build 3647,085,470 - 7,085,633RGDNCBI36
Celera46,938,870 - 6,939,033RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,961,795 - 6,961,958UniSTS
GeneMap99-GB4 RH Map447.96UniSTS
SHGC-25112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,926,531 - 6,926,679UniSTSGRCh37
Build 3646,977,432 - 6,977,580RGDNCBI36
Celera46,828,574 - 6,828,722RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,854,139 - 6,854,287UniSTS
TNG Radiation Hybrid Map44031.0UniSTS
SHGC-51773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3747,033,220 - 7,033,346UniSTSGRCh37
Build 3647,084,121 - 7,084,247RGDNCBI36
Celera46,937,521 - 6,937,647RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,960,446 - 6,960,572UniSTS
TNG Radiation Hybrid Map44191.0UniSTS
RH48438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3747,033,765 - 7,033,918UniSTSGRCh37
Build 3647,084,666 - 7,084,819RGDNCBI36
Celera46,938,066 - 6,938,219RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,960,991 - 6,961,144UniSTS
GeneMap99-GB4 RH Map447.96UniSTS
D4S514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3747,025,895 - 7,026,066UniSTSGRCh37
Build 3647,076,796 - 7,076,967RGDNCBI36
Celera46,930,196 - 6,930,367RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,953,122 - 6,953,293UniSTS
TNG Radiation Hybrid Map44191.0UniSTS
SHGC-8654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3747,033,153 - 7,033,310UniSTSGRCh37
Build 3647,084,054 - 7,084,211RGDNCBI36
Celera46,937,454 - 6,937,611RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,960,379 - 6,960,536UniSTS
GeneMap99-G3 RH Map4473.0UniSTS
G35316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,987,990 - 6,988,115UniSTSGRCh37
Build 3647,038,891 - 7,039,016RGDNCBI36
Celera46,892,342 - 6,892,467RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,915,301 - 6,915,426UniSTS
SHGC-59483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,965,043 - 6,965,163UniSTSGRCh37
Build 3647,015,944 - 7,016,064RGDNCBI36
Celera46,868,987 - 6,869,107RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,892,359 - 6,892,479UniSTS
GeneMap99-GB4 RH Map447.86UniSTS
SHGC-59811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3746,987,173 - 6,987,286UniSTSGRCh37
Build 3647,038,074 - 7,038,187RGDNCBI36
Celera46,891,521 - 6,891,634RGD
Cytogenetic Map4p16.1UniSTS
HuRef46,914,480 - 6,914,593UniSTS
GeneMap99-GB4 RH Map447.86UniSTS
D4S394  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
TNG Radiation Hybrid Map44022.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5658
Count of miRNA genes:1037
Interacting mature miRNAs:1261
Transcripts:ENST00000409757, ENST00000410031, ENST00000427736, ENST00000439515, ENST00000444368, ENST00000446947, ENST00000448507, ENST00000451522, ENST00000467966
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
High
Medium 1830 1604 932 214 1429 73 3702 1309 2476 289 1188 1194 154 718 2392 4
Low 605 1361 785 402 519 385 654 866 1238 128 262 414 18 486 396
Below cutoff 1 20 9 6 1 6 19 18 2 7 3 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001113361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001113363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_241653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA724344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB037743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB449900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC106045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ230652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA317176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA492919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA754761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB241199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC399948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000409757   ⟹   ENSP00000386921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,909,826 - 7,033,114 (+)Ensembl
RefSeq Acc Id: ENST00000410031   ⟹   ENSP00000386343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,954,220 - 7,033,114 (+)Ensembl
RefSeq Acc Id: ENST00000427736   ⟹   ENSP00000411760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,910,248 - 6,923,559 (+)Ensembl
RefSeq Acc Id: ENST00000439515   ⟹   ENSP00000389082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,999,183 - 7,010,777 (+)Ensembl
RefSeq Acc Id: ENST00000444368   ⟹   ENSP00000414951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,909,242 - 6,923,771 (+)Ensembl
RefSeq Acc Id: ENST00000446947   ⟹   ENSP00000405875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,987,508 - 7,033,117 (+)Ensembl
RefSeq Acc Id: ENST00000448507   ⟹   ENSP00000404041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,909,444 - 7,033,118 (+)Ensembl
RefSeq Acc Id: ENST00000451522   ⟹   ENSP00000388886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,987,162 - 7,033,114 (+)Ensembl
RefSeq Acc Id: ENST00000467966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl46,994,209 - 7,001,476 (+)Ensembl
RefSeq Acc Id: NM_001113361   ⟹   NP_001106832
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,909,466 - 7,033,114 (+)NCBI
GRCh3746,911,171 - 7,034,845 (+)NCBI
Celera46,813,220 - 6,939,146 (+)RGD
HuRef46,838,793 - 6,962,071 (+)RGD
CHM1_146,909,420 - 7,033,430 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001113363   ⟹   NP_001106834
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,987,209 - 7,033,114 (+)NCBI
GRCh3746,911,171 - 7,034,845 (+)NCBI
Celera46,813,220 - 6,939,146 (+)RGD
HuRef46,838,793 - 6,962,071 (+)RGD
CHM1_146,987,471 - 7,033,430 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286805   ⟹   NP_001273734
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,987,508 - 7,033,114 (+)NCBI
HuRef46,838,793 - 6,962,071 (+)NCBI
CHM1_146,987,817 - 7,033,430 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330638   ⟹   NP_001317567
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,954,166 - 7,033,114 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020773   ⟹   NP_065824
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,909,826 - 7,033,114 (+)NCBI
GRCh3746,911,171 - 7,034,845 (+)NCBI
Build 3646,962,473 - 7,085,739 (+)NCBI Archive
Celera46,813,220 - 6,939,146 (+)RGD
HuRef46,838,793 - 6,962,071 (+)RGD
CHM1_146,909,744 - 7,033,430 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005247986   ⟹   XP_005248043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,909,799 - 7,032,745 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006713895   ⟹   XP_006713958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,910,248 - 7,033,114 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513507   ⟹   XP_011511809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,909,799 - 7,033,114 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513508   ⟹   XP_011511810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,909,444 - 7,033,114 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513513   ⟹   XP_011511815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,987,226 - 7,033,114 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008477   ⟹   XP_016863966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,909,444 - 7,032,745 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008479   ⟹   XP_016863968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,987,220 - 7,032,745 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008480   ⟹   XP_016863969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,942,728 - 7,033,114 (+)NCBI
Sequence:
RefSeq Acc Id: XR_241653
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,909,768 - 7,033,114 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001106832   ⟸   NM_001113361
- Peptide Label: isoform a
- UniProtKB: Q9P2M4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_065824   ⟸   NM_020773
- Peptide Label: isoform a
- UniProtKB: Q9P2M4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001106834   ⟸   NM_001113363
- Peptide Label: isoform b
- UniProtKB: Q9P2M4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005248043   ⟸   XM_005247986
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001273734   ⟸   NM_001286805
- Peptide Label: isoform c
- UniProtKB: Q9P2M4 (UniProtKB/Swiss-Prot),   F5GXK4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713958   ⟸   XM_006713895
- Peptide Label: isoform X3
- UniProtKB: Q9P2M4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511810   ⟸   XM_011513508
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011511809   ⟸   XM_011513507
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011511815   ⟸   XM_011513513
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016863966   ⟸   XM_017008477
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016863969   ⟸   XM_017008480
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016863968   ⟸   XM_017008479
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001317567   ⟸   NM_001330638
- Peptide Label: isoform d
- UniProtKB: Q9P2M4 (UniProtKB/Swiss-Prot),   B9A071 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000386343   ⟸   ENST00000410031
RefSeq Acc Id: ENSP00000389082   ⟸   ENST00000439515
RefSeq Acc Id: ENSP00000388886   ⟸   ENST00000451522
RefSeq Acc Id: ENSP00000411760   ⟸   ENST00000427736
RefSeq Acc Id: ENSP00000414951   ⟸   ENST00000444368
RefSeq Acc Id: ENSP00000405875   ⟸   ENST00000446947
RefSeq Acc Id: ENSP00000386921   ⟸   ENST00000409757
RefSeq Acc Id: ENSP00000404041   ⟸   ENST00000448507
Protein Domains
Rab-GAP TBC

Promoters
RGD ID:6866990
Promoter ID:EPDNEW_H6660
Type:initiation region
Name:TBC1D14_1
Description:TBC1 domain family member 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3846,909,826 - 6,909,886EPDNEW
RGD ID:6802642
Promoter ID:HG_KWN:47801
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001113361,   NM_020773,   OTTHUMT00000326790,   OTTHUMT00000326791
Position:
Human AssemblyChrPosition (strand)Source
Build 3646,961,001 - 6,963,222 (+)MPROMDB
RGD ID:6802202
Promoter ID:HG_KWN:47803
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000410031
Position:
Human AssemblyChrPosition (strand)Source
Build 3647,006,341 - 7,006,841 (+)MPROMDB
RGD ID:6802643
Promoter ID:HG_KWN:47804
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001113363,   OTTHUMT00000326792,   OTTHUMT00000326793
Position:
Human AssemblyChrPosition (strand)Source
Build 3647,039,521 - 7,040,057 (+)MPROMDB
RGD ID:6802644
Promoter ID:HG_KWN:47808
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000326795,   OTTHUMT00000326796
Position:
Human AssemblyChrPosition (strand)Source
Build 3647,051,836 - 7,052,992 (+)MPROMDB
RGD ID:6802647
Promoter ID:HG_KWN:47809
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC003GJU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3647,052,926 - 7,053,426 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1 copy number loss See cases [RCV000053262] Chr4:5455628..10640216 [GRCh38]
Chr4:5457355..10641840 [GRCh37]
Chr4:5508256..10250938 [NCBI36]
Chr4:4p16.2-16.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:3776784-7361544)x1 copy number loss See cases [RCV000239959] Chr4:3776784..7361544 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.1(chr4:6968998-8145949)x3 copy number gain See cases [RCV000447948] Chr4:6968998..8145949 [GRCh37]
Chr4:4p16.1
uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_020773.3(TBC1D14):c.97G>A (p.Val33Ile) single nucleotide variant not provided [RCV000972714] Chr4:6923486 [GRCh38]
Chr4:6925213 [GRCh37]
Chr4:4p16.1
benign
NM_020773.3(TBC1D14):c.255C>T (p.His85=) single nucleotide variant not provided [RCV000975029] Chr4:6923644 [GRCh38]
Chr4:6925371 [GRCh37]
Chr4:4p16.1
benign
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 copy number loss not provided [RCV000845896] Chr4:3374195..13468480 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 copy number loss not provided [RCV001005519] Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32
likely pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29246 AgrOrtholog
COSMIC TBC1D14 COSMIC
Ensembl Genes ENSG00000132405 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000386343 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000386921 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388886 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389082 UniProtKB/TrEMBL
  ENSP00000404041 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000405875 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000411760 UniProtKB/TrEMBL
  ENSP00000414951 UniProtKB/TrEMBL
Ensembl Transcript ENST00000409757 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000410031 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000427736 UniProtKB/TrEMBL
  ENST00000439515 UniProtKB/TrEMBL
  ENST00000444368 UniProtKB/TrEMBL
  ENST00000446947 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000448507 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000451522 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000132405 GTEx
HGNC ID HGNC:29246 ENTREZGENE
Human Proteome Map TBC1D14 Human Proteome Map
InterPro Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57533 UniProtKB/Swiss-Prot
NCBI Gene 57533 ENTREZGENE
OMIM 614855 OMIM
Pfam RabGAP-TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394697 PharmGKB
PROSITE TBC_RABGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B9A071 ENTREZGENE, UniProtKB/TrEMBL
  C9J541_HUMAN UniProtKB/TrEMBL
  C9JP26_HUMAN UniProtKB/TrEMBL
  F5GXK4 ENTREZGENE, UniProtKB/TrEMBL
  H7BZD7_HUMAN UniProtKB/TrEMBL
  Q9P2M4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B9A6L5 UniProtKB/Swiss-Prot
  D3DVT4 UniProtKB/Swiss-Prot
  E9PAZ6 UniProtKB/Swiss-Prot
  Q8IW15 UniProtKB/Swiss-Prot
  Q8NDK3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TBC1D14  TBC1 domain family member 14    TBC1 domain family, member 14  Symbol and/or name change 5135510 APPROVED