IFT43 (intraflagellar transport 43) - Rat Genome Database

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Gene: IFT43 (intraflagellar transport 43) Homo sapiens
Analyze
Symbol: IFT43
Name: intraflagellar transport 43
RGD ID: 1602079
HGNC Page HGNC
Description: Involved in cilium assembly and intraciliary retrograde transport. Located in centriolar satellite and cilium. Part of intraciliary transport particle A. Implicated in cranioectodermal dysplasia 3; retinitis pigmentosa 81; and short-rib thoracic dysplasia 18 with polydactyly.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C14orf179; CED3; FLJ32173; hypothetical protein LOC112752; IFT complex A subunit; intraflagellar transport 43 homolog; intraflagellar transport protein 43 homolog; MGC16028; RP81; SRTD18
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 Ensembl1475,902,136 - 76,084,585 (+)EnsemblGRCh38hg38GRCh38
GRCh381475,985,763 - 76,084,073 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371476,452,106 - 76,550,416 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361475,521,849 - 75,619,845 (+)NCBINCBI36hg18NCBI36
Celera1456,490,240 - 56,588,245 (+)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1456,620,770 - 56,718,964 (+)NCBIHuRef
CHM1_11476,389,900 - 76,488,172 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dental enamel morphology  (IAGP)
Abnormal diaphysis morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal toenail morphology  (IAGP)
Abnormality of the metaphysis  (IAGP)
Anteverted nares  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brachydactyly  (IAGP)
Broad nail  (IAGP)
Cirrhosis  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Craniosynostosis  (IAGP)
Cutis laxa  (IAGP)
Cystic hygroma  (IAGP)
Dolichocephaly  (IAGP)
Dry skin  (IAGP)
Ectodermal dysplasia  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
High hypermetropia  (IAGP)
Hydrocephalus  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of teeth  (IAGP)
Hypoplastic ischia  (IAGP)
Hypotelorism  (IAGP)
Intellectual disability, mild  (IAGP)
Joint hyperflexibility  (IAGP)
Joint laxity  (IAGP)
Macrocephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Myopia  (IAGP)
Narrow chest  (IAGP)
Nephronophthisis  (IAGP)
Nystagmus  (IAGP)
Osteoporosis  (IAGP)
Pallor  (IAGP)
Pectus excavatum  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Platyspondyly  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Postaxial polydactyly  (IAGP)
Preaxial polydactyly  (IAGP)
Prominent occiput  (IAGP)
Prostate cancer  (IAGP)
Rhizomelia  (IAGP)
Sagittal craniosynostosis  (IAGP)
Sandal gap  (IAGP)
Scaphocephaly  (IAGP)
Short distal phalanx of finger  (IAGP)
Short nail  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Sparse hair  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Syndactyly  (IAGP)
Taurodontia  (IAGP)
Telecanthus  (IAGP)
Thin upper lip vermilion  (IAGP)
Thoracic hypoplasia  (IAGP)
Ventriculomegaly  (IAGP)
Vertebral wedging  (IAGP)
Widely spaced teeth  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:12508121   PMID:14702039   PMID:15489334   PMID:17207965   PMID:18029348   PMID:20889716   PMID:21378380   PMID:24027799   PMID:24236485   PMID:25416956  
PMID:26186194   PMID:26740177   PMID:27173435   PMID:27932497   PMID:28514442   PMID:28973684   PMID:29220510   PMID:29987050   PMID:32296183   PMID:33187986  


Genomics

Comparative Map Data
IFT43
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1475,902,136 - 76,084,585 (+)EnsemblGRCh38hg38GRCh38
GRCh381475,985,763 - 76,084,073 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371476,452,106 - 76,550,416 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361475,521,849 - 75,619,845 (+)NCBINCBI36hg18NCBI36
Celera1456,490,240 - 56,588,245 (+)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1456,620,770 - 56,718,964 (+)NCBIHuRef
CHM1_11476,389,900 - 76,488,172 (+)NCBICHM1_1
Ift43
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391286,129,335 - 86,209,233 (+)NCBIGRCm39mm39
GRCm39 Ensembl1286,129,315 - 86,209,233 (+)Ensembl
GRCm381286,082,561 - 86,162,459 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1286,082,541 - 86,162,459 (+)EnsemblGRCm38mm10GRCm38
MGSCv371287,423,513 - 87,503,406 (+)NCBIGRCm37mm9NCBIm37
MGSCv361286,971,666 - 87,051,561 (+)NCBImm8
Celera1287,542,676 - 87,622,440 (+)NCBICelera
Cytogenetic Map12D2NCBI
Ift43
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26105,729,734 - 105,806,257 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl6105,729,792 - 105,806,257 (+)Ensembl
Rnor_6.06109,939,323 - 110,016,646 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6109,939,345 - 110,016,644 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06119,247,640 - 119,323,933 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46110,199,027 - 110,276,696 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16110,199,475 - 110,280,229 (+)NCBI
Celera6103,556,375 - 103,632,887 (+)NCBICelera
Cytogenetic Map6q31NCBI
Ift43
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543858,272 - 144,730 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543858,503 - 144,675 (+)NCBIChiLan1.0ChiLan1.0
IFT43
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11475,387,742 - 75,485,904 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1475,387,742 - 75,485,506 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01456,544,333 - 56,642,312 (+)NCBIMhudiblu_PPA_v0panPan3
IFT43
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1848,949,740 - 49,031,614 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl848,949,822 - 49,031,608 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha848,632,374 - 48,714,286 (+)NCBI
ROS_Cfam_1.0849,173,992 - 49,256,041 (+)NCBI
UMICH_Zoey_3.1848,846,484 - 48,928,189 (+)NCBI
UNSW_CanFamBas_1.0848,868,463 - 48,950,366 (+)NCBI
UU_Cfam_GSD_1.0849,264,573 - 49,346,349 (+)NCBI
Ift43
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864026,977,988 - 27,059,727 (-)NCBI
SpeTri2.0NW_0049364885,011,792 - 5,090,980 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IFT43
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1799,155,889 - 99,254,436 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27105,200,664 - 105,299,439 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IFT43
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12453,231,293 - 53,329,116 (+)NCBI
ChlSab1.1 Ensembl2453,231,300 - 53,329,109 (+)Ensembl
Vero_WHO_p1.0NW_02366605341,447,494 - 41,545,441 (+)NCBI
Ift43
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473425,628,737 - 25,713,924 (-)NCBI

Position Markers
D14S771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,502,160 - 76,502,269UniSTSGRCh37
Build 361475,571,913 - 75,572,022RGDNCBI36
Celera1456,540,307 - 56,540,416RGD
Cytogenetic Map14q24.3UniSTS
HuRef1456,670,688 - 56,670,797UniSTS
Whitehead-RH Map14268.6UniSTS
RH44406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,549,817 - 76,549,943UniSTSGRCh37
Build 361475,619,570 - 75,619,696RGDNCBI36
Celera1456,587,970 - 56,588,096RGD
Cytogenetic Map14q24.3UniSTS
HuRef1456,718,365 - 56,718,491UniSTS
GeneMap99-GB4 RH Map14203.66UniSTS
NCBI RH Map14847.9UniSTS
D14S1348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,549,847 - 76,549,994UniSTSGRCh37
Build 361475,619,600 - 75,619,747RGDNCBI36
Celera1456,588,000 - 56,588,147RGD
Cytogenetic Map14q24.3UniSTS
HuRef1456,718,395 - 56,718,542UniSTS
GeneMap99-G3 RH Map142886.0UniSTS
G63027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,550,074 - 76,550,353UniSTSGRCh37
Build 361475,619,827 - 75,620,106RGDNCBI36
Celera1456,588,227 - 56,588,506RGD
Cytogenetic Map14q24.3UniSTS
HuRef1456,718,622 - 56,718,901UniSTS
TNG Radiation Hybrid Map1427998.0UniSTS
RH45331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,508,335 - 76,508,524UniSTSGRCh37
Build 361475,578,088 - 75,578,277RGDNCBI36
Celera1456,546,482 - 56,546,673RGD
Cytogenetic Map14q24.3UniSTS
HuRef1456,676,863 - 56,677,054UniSTS
GeneMap99-GB4 RH Map14203.66UniSTS
NCBI RH Map14847.9UniSTS
SHGC-173313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,469,237 - 76,469,509UniSTSGRCh37
Build 361475,538,990 - 75,539,262RGDNCBI36
Celera1456,507,380 - 56,507,652RGD
Cytogenetic Map14q24.3UniSTS
HuRef1456,637,868 - 56,638,140UniSTS
TNG Radiation Hybrid Map1427970.0UniSTS
A009J27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,549,956 - 76,550,082UniSTSGRCh37
Build 361475,619,709 - 75,619,835RGDNCBI36
Celera1456,588,109 - 56,588,235RGD
Cytogenetic Map14q24.3UniSTS
HuRef1456,718,504 - 56,718,630UniSTS
GeneMap99-GB4 RH Map14202.48UniSTS
NCBI RH Map14885.0UniSTS
G36086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,454,718 - 76,454,821UniSTSGRCh37
Build 361475,524,471 - 75,524,574RGDNCBI36
Celera1456,492,863 - 56,492,966RGD
Cytogenetic Map14q24.3UniSTS
HuRef1456,623,393 - 56,623,496UniSTS
A009P39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,508,306 - 76,508,535UniSTSGRCh37
Build 361475,578,059 - 75,578,288RGDNCBI36
Celera1456,546,453 - 56,546,684RGD
Cytogenetic Map14q24.3UniSTS
HuRef1456,676,834 - 56,677,065UniSTS
GeneMap99-GB4 RH Map14202.48UniSTS
NCBI RH Map14885.0UniSTS
G32586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,549,956 - 76,550,082UniSTSGRCh37
Celera1456,588,109 - 56,588,235UniSTS
Cytogenetic Map14q24.3UniSTS
HuRef1456,718,504 - 56,718,630UniSTS
G32751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,508,306 - 76,508,535UniSTSGRCh37
Celera1456,546,453 - 56,546,684UniSTS
Cytogenetic Map14q24.3UniSTS
HuRef1456,676,834 - 56,677,065UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2054
Count of miRNA genes:906
Interacting mature miRNAs:1096
Transcripts:ENST00000238628, ENST00000314067, ENST00000542766, ENST00000553338, ENST00000553438, ENST00000554026, ENST00000554233, ENST00000554423, ENST00000555305, ENST00000555370, ENST00000555677, ENST00000556742
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 1871 1643 1396 281 330 205 2429 977 2190 328 1380 1471 92 1 973 1510 3
Low 568 1270 327 340 1539 257 1928 1219 1544 91 80 142 83 231 1278 3 2
Below cutoff 78 2 2 82 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001102564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001255995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF107885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW235031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW439039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI821833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU627157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB853974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB443802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB497730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000238628   ⟹   ENSP00000238628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,985,782 - 76,083,746 (+)Ensembl
RefSeq Acc Id: ENST00000314067   ⟹   ENSP00000324177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,985,763 - 76,083,742 (+)Ensembl
RefSeq Acc Id: ENST00000542766   ⟹   ENSP00000440064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,985,770 - 76,084,073 (+)Ensembl
RefSeq Acc Id: ENST00000553338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,985,794 - 76,022,402 (+)Ensembl
RefSeq Acc Id: ENST00000553438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1476,022,325 - 76,082,625 (+)Ensembl
RefSeq Acc Id: ENST00000554026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,985,780 - 76,083,701 (+)Ensembl
RefSeq Acc Id: ENST00000554233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1476,058,324 - 76,059,610 (+)Ensembl
RefSeq Acc Id: ENST00000554423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1476,058,171 - 76,059,348 (+)Ensembl
RefSeq Acc Id: ENST00000555305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,985,780 - 76,084,585 (+)Ensembl
RefSeq Acc Id: ENST00000555370   ⟹   ENSP00000452051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,985,782 - 76,059,376 (+)Ensembl
RefSeq Acc Id: ENST00000555677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,902,136 - 76,022,631 (+)Ensembl
RefSeq Acc Id: ENST00000556742   ⟹   ENSP00000451096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,985,784 - 76,059,271 (+)Ensembl
RefSeq Acc Id: ENST00000679083   ⟹   ENSP00000504736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,985,753 - 76,083,741 (+)Ensembl
RefSeq Acc Id: NM_001102564   ⟹   NP_001096034
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381475,985,763 - 76,083,742 (+)NCBI
GRCh371476,452,096 - 76,550,416 (+)NCBI
Build 361475,521,849 - 75,619,845 (+)NCBI Archive
Celera1456,490,240 - 56,588,245 (+)RGD
HuRef1456,620,770 - 56,718,964 (+)NCBI
CHM1_11476,389,900 - 76,487,848 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001255995   ⟹   NP_001242924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381475,985,763 - 76,059,271 (+)NCBI
GRCh371476,452,096 - 76,550,416 (+)NCBI
HuRef1456,620,770 - 56,718,964 (+)NCBI
CHM1_11476,389,900 - 76,463,398 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052873   ⟹   NP_443105
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381475,985,763 - 76,083,742 (+)NCBI
GRCh371476,452,096 - 76,550,416 (+)NCBI
Build 361475,521,849 - 75,619,845 (+)NCBI Archive
Celera1456,490,240 - 56,588,245 (+)RGD
HuRef1456,620,770 - 56,718,964 (+)NCBI
CHM1_11476,389,900 - 76,487,848 (+)NCBI
Sequence:
RefSeq Acc Id: NR_045664
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381475,985,763 - 76,084,073 (+)NCBI
GRCh371476,452,096 - 76,550,416 (+)NCBI
HuRef1456,620,770 - 56,718,964 (+)NCBI
CHM1_11476,389,900 - 76,488,172 (+)NCBI
Sequence:
RefSeq Acc Id: NR_045665
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381475,985,763 - 76,084,073 (+)NCBI
GRCh371476,452,096 - 76,550,416 (+)NCBI
HuRef1456,620,770 - 56,718,964 (+)NCBI
CHM1_11476,389,900 - 76,488,172 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_443105   ⟸   NM_052873
- Peptide Label: isoform 1
- UniProtKB: Q96FT9 (UniProtKB/Swiss-Prot),   A0A024R6A9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001096034   ⟸   NM_001102564
- Peptide Label: isoform 2
- UniProtKB: Q96FT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001242924   ⟸   NM_001255995
- Peptide Label: isoform 3
- UniProtKB: Q96FT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000452051   ⟸   ENST00000555370
RefSeq Acc Id: ENSP00000440064   ⟸   ENST00000542766
RefSeq Acc Id: ENSP00000451096   ⟸   ENST00000556742
RefSeq Acc Id: ENSP00000324177   ⟸   ENST00000314067
RefSeq Acc Id: ENSP00000238628   ⟸   ENST00000238628
RefSeq Acc Id: ENSP00000504736   ⟸   ENST00000679083

Promoters
RGD ID:6791336
Promoter ID:HG_KWN:19830
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001102564,   NM_052873,   UC001XSE.2,   UC001XSF.2,   UC010ASL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361475,521,676 - 75,522,176 (+)MPROMDB
RGD ID:7228211
Promoter ID:EPDNEW_H19851
Type:initiation region
Name:C14orf179_1
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
GRCh381475,985,783 - 75,985,843EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_052873.3(IFT43):c.1A>G (p.Met1Val) single nucleotide variant Cranioectodermal dysplasia 3 [RCV000024093] Chr14:75985787 [GRCh38]
Chr14:76452130 [GRCh37]
Chr14:14q24.3
pathogenic
NM_052873.3(IFT43):c.8A>G (p.Asp3Gly) single nucleotide variant Jeune thoracic dystrophy [RCV000515914] Chr14:75985794 [GRCh38]
Chr14:76452137 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_052873.3(IFT43):c.535T>C (p.Trp179Arg) single nucleotide variant Short Rib Polydactyly Syndrome [RCV000851215]|Short-rib thoracic dysplasia 18 with polydactyly [RCV000578473] Chr14:76083470 [GRCh38]
Chr14:76549813 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 copy number loss See cases [RCV000051548] Chr14:73877072..78042422 [GRCh38]
Chr14:74343775..78508765 [GRCh37]
Chr14:73413528..77578518 [NCBI36]
Chr14:14q24.3
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1 copy number loss See cases [RCV000051549] Chr14:75489052..79610332 [GRCh38]
Chr14:75955395..80076675 [GRCh37]
Chr14:75025148..79146428 [NCBI36]
Chr14:14q24.3-31.1
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) deletion Intellectual disability, mild [RCV000190520] Chr14:73152115..77698582 [GRCh37]
Chr14:14q24.2-24.3
pathogenic|likely pathogenic
NM_052873.3(IFT43):c.21G>T (p.Leu7Phe) single nucleotide variant Malignant tumor of prostate [RCV000149326] Chr14:75985807 [GRCh38]
Chr14:76452150 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1 copy number loss See cases [RCV000137114] Chr14:74986195..76399258 [GRCh38]
Chr14:75452898..76865601 [GRCh37]
Chr14:74522651..75935354 [NCBI36]
Chr14:14q24.3
uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 copy number loss See cases [RCV000143265] Chr14:73343213..78835059 [GRCh38]
Chr14:73809921..79301402 [GRCh37]
Chr14:72879674..78371155 [NCBI36]
Chr14:14q24.3-31.1
pathogenic|likely pathogenic
NM_052873.3(IFT43):c.73C>T (p.Arg25Ter) single nucleotide variant Jeune thoracic dystrophy [RCV000754952] Chr14:75988903 [GRCh38]
Chr14:76455246 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_052873.3(IFT43):c.504G>A (p.Pro168=) single nucleotide variant not provided [RCV000888779] Chr14:76083271 [GRCh38]
Chr14:76549614 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_052873.3(IFT43):c.136C>T (p.Leu46=) single nucleotide variant not provided [RCV000906941] Chr14:75988966 [GRCh38]
Chr14:76455309 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_001102564.1(IFT43):c.-34G>T single nucleotide variant Cranioectodermal dysplasia [RCV000281712] Chr14:75985753 [GRCh38]
Chr14:76452096 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_052873.3(IFT43):c.148-15T>C single nucleotide variant not provided [RCV001516672] Chr14:76022312 [GRCh38]
Chr14:76488655 [GRCh37]
Chr14:14q24.3
benign|uncertain significance
NM_052873.3(IFT43):c.*28G>A single nucleotide variant Cranioectodermal dysplasia [RCV000347886] Chr14:76083605 [GRCh38]
Chr14:76549948 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_052873.3(IFT43):c.92C>T (p.Ala31Val) single nucleotide variant not provided [RCV001352434] Chr14:75988922 [GRCh38]
Chr14:76455265 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_052873.3(IFT43):c.280G>A (p.Asp94Asn) single nucleotide variant not provided [RCV001520079] Chr14:76076661 [GRCh38]
Chr14:76543004 [GRCh37]
Chr14:14q24.3
benign
NM_052873.3(IFT43):c.21G>A (p.Leu7=) single nucleotide variant not provided [RCV000925972] Chr14:75985807 [GRCh38]
Chr14:76452150 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.4(TGFB3):c.-543T>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000325439]|Cranioectodermal dysplasia [RCV000378353] Chr14:75981436 [GRCh38]
Chr14:76447779 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.4(TGFB3):c.-614C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000276178]|Cranioectodermal dysplasia [RCV000267554]|not provided [RCV000827670] Chr14:75981507 [GRCh38]
Chr14:76447850 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_052873.3(IFT43):c.100G>A (p.Glu34Lys) single nucleotide variant Retinitis pigmentosa 81 [RCV000579001]|not provided [RCV001215266] Chr14:75988930 [GRCh38]
Chr14:76455273 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic|uncertain significance
NM_052873.3(IFT43):c.310+4G>C single nucleotide variant not provided [RCV000733587] Chr14:76076695 [GRCh38]
Chr14:76543038 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_052873.3(IFT43):c.310+2T>C single nucleotide variant Retinitis pigmentosa 81 [RCV001197867]|not provided [RCV000731746] Chr14:76076693 [GRCh38]
Chr14:76543036 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_052873.3(IFT43):c.269C>T (p.Thr90Met) single nucleotide variant not provided [RCV000439850] Chr14:76076650 [GRCh38]
Chr14:76542993 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1 copy number loss See cases [RCV000511668] Chr14:76082940..78372356 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3(chr14:76339283-77061858)x4 copy number gain See cases [RCV000510767] Chr14:76339283..77061858 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_052873.3(IFT43):c.2T>A (p.Met1Lys) single nucleotide variant Short Rib Polydactyly Syndrome [RCV000851214]|Short-rib thoracic dysplasia 18 with polydactyly [RCV000578472]|not provided [RCV001206016] Chr14:75985788 [GRCh38]
Chr14:76452131 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_052873.3(IFT43):c.339A>G (p.Glu113=) single nucleotide variant not provided [RCV000916566] Chr14:76082323 [GRCh38]
Chr14:76548666 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe) single nucleotide variant not provided [RCV001053275] Chr14:76082643 [GRCh38]
Chr14:76548986 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_052873.3(IFT43):c.147+18dup duplication not provided [RCV000899869] Chr14:75988986..75988987 [GRCh38]
Chr14:76455329..76455330 [GRCh37]
Chr14:14q24.3
benign
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu) single nucleotide variant not provided [RCV001071552] Chr14:76083241 [GRCh38]
Chr14:76549584 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_052873.3(IFT43):c.16G>C (p.Asp6His) single nucleotide variant not provided [RCV000995218] Chr14:75985802 [GRCh38]
Chr14:76452145 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.98C>A (p.Ala33Asp) single nucleotide variant not provided [RCV001035097] Chr14:75988928 [GRCh38]
Chr14:76455271 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_052873.3(IFT43):c.214_215+2del deletion Cranioectodermal dysplasia 3 [RCV000778414] Chr14:76022393..76022396 [GRCh38]
Chr14:76488736..76488739 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_052873.3(IFT43):c.147+9T>C single nucleotide variant not provided [RCV000939438] Chr14:75988986 [GRCh38]
Chr14:76455329 [GRCh37]
Chr14:14q24.3
likely benign
NM_052873.3(IFT43):c.195T>A (p.Gly65=) single nucleotide variant not provided [RCV000880293] Chr14:76022374 [GRCh38]
Chr14:76488717 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.296-5661G>A single nucleotide variant not provided [RCV001055234] Chr14:76076634 [GRCh38]
Chr14:76542977 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3(chr14:76057971-76576494)x3 copy number gain not provided [RCV000846916] Chr14:76057971..76576494 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.311C>T (p.Pro104Leu) single nucleotide variant not provided [RCV001056668] Chr14:76082310 [GRCh38]
Chr14:76548653 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.24C>A (p.Asp8Glu) single nucleotide variant not provided [RCV001213264] Chr14:75985810 [GRCh38]
Chr14:76452153 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp) single nucleotide variant not provided [RCV001200595] Chr14:76083280 [GRCh38]
Chr14:76549623 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.464A>C (p.Lys155Thr) single nucleotide variant not provided [RCV001238341] Chr14:76083246 [GRCh38]
Chr14:76549589 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.444+56C>T single nucleotide variant not provided [RCV001551871] Chr14:76082748 [GRCh38]
Chr14:76549091 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.369-107T>C single nucleotide variant not provided [RCV001570833] Chr14:76082510 [GRCh38]
Chr14:76548853 [GRCh37]
Chr14:14q24.3
likely benign
NM_052873.3(IFT43):c.384-8del deletion not provided [RCV000922450] Chr14:76082607 [GRCh38]
Chr14:76548950 [GRCh37]
Chr14:14q24.3
benign
NM_052873.3(IFT43):c.501G>A (p.Ala167=) single nucleotide variant not provided [RCV000907996] Chr14:76083268 [GRCh38]
Chr14:76549611 [GRCh37]
Chr14:14q24.3
benign
NM_052873.3(IFT43):c.483C>T (p.Leu161=) single nucleotide variant not provided [RCV000926281] Chr14:76083250 [GRCh38]
Chr14:76549593 [GRCh37]
Chr14:14q24.3
likely benign
NM_052873.3(IFT43):c.138G>C (p.Leu46=) single nucleotide variant not provided [RCV000928949] Chr14:75988968 [GRCh38]
Chr14:76455311 [GRCh37]
Chr14:14q24.3
likely benign
NM_052873.3(IFT43):c.585G>A (p.Glu195=) single nucleotide variant not provided [RCV000953330] Chr14:76083520 [GRCh38]
Chr14:76549863 [GRCh37]
Chr14:14q24.3
likely benign
NM_052873.3(IFT43):c.531C>T (p.Val177=) single nucleotide variant not provided [RCV000902240] Chr14:76083466 [GRCh38]
Chr14:76549809 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro) single nucleotide variant not provided [RCV001226751] Chr14:75988921 [GRCh38]
Chr14:76455264 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.508-8_508-6del microsatellite not provided [RCV001240853] Chr14:76083447..76083449 [GRCh38]
Chr14:76549790..76549792 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.445G>T (p.Asp149Tyr) single nucleotide variant not provided [RCV001227841] Chr14:76083227 [GRCh38]
Chr14:76549570 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.25G>T (p.Glu9Ter) single nucleotide variant not provided [RCV001244195] Chr14:75985811 [GRCh38]
Chr14:76452154 [GRCh37]
Chr14:14q24.3
pathogenic
NM_052873.3(IFT43):c.516C>A (p.Val172=) single nucleotide variant not provided [RCV000889240] Chr14:76083283 [GRCh38]
Chr14:76549626 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.508-39G>A single nucleotide variant not provided [RCV001570722] Chr14:76083419 [GRCh38]
Chr14:76549762 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.215+134A>G single nucleotide variant not provided [RCV001558101] Chr14:76022528 [GRCh38]
Chr14:76488871 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.148-65A>T single nucleotide variant not provided [RCV001549893] Chr14:76022262 [GRCh38]
Chr14:76488605 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.398G>A (p.Arg133His) single nucleotide variant not provided [RCV001054816] Chr14:76082646 [GRCh38]
Chr14:76548989 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.34C>A (p.Arg12Ser) single nucleotide variant not provided [RCV001059413] Chr14:75985820 [GRCh38]
Chr14:76452163 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter) single nucleotide variant not provided [RCV001063718] Chr14:76083533 [GRCh38]
Chr14:76549876 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.296-5681A>G single nucleotide variant not provided [RCV001037516] Chr14:76076614 [GRCh38]
Chr14:76542957 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.29A>G (p.Glu10Gly) single nucleotide variant not provided [RCV001062899] Chr14:75985815 [GRCh38]
Chr14:76452158 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.216-4del deletion not specified [RCV001529226] Chr14:76058628 [GRCh38]
Chr14:76524971 [GRCh37]
Chr14:14q24.3
benign
NM_001102564.3(IFT43):c.452A>G (p.Glu151Gly) single nucleotide variant not provided [RCV001306776] Chr14:76083234 [GRCh38]
Chr14:76549577 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile) single nucleotide variant not provided [RCV001321008] Chr14:76083251 [GRCh38]
Chr14:76549594 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.71G>A (p.Arg24His) single nucleotide variant not provided [RCV001309153] Chr14:75988901 [GRCh38]
Chr14:76455244 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.493C>T (p.His165Tyr) single nucleotide variant not provided [RCV001313225] Chr14:76083275 [GRCh38]
Chr14:76549618 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.591G>C (p.Glu197Asp) single nucleotide variant not provided [RCV001312323] Chr14:76083541 [GRCh38]
Chr14:76549884 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.365C>T (p.Pro122Leu) single nucleotide variant not provided [RCV001315644] Chr14:76082364 [GRCh38]
Chr14:76548707 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.397C>T (p.Arg133Cys) single nucleotide variant not provided [RCV001352003] Chr14:76082645 [GRCh38]
Chr14:76548988 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser) single nucleotide variant not provided [RCV001294567] Chr14:76082360 [GRCh38]
Chr14:76548703 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.104A>G (p.Asn35Ser) single nucleotide variant not provided [RCV001338203] Chr14:75988934 [GRCh38]
Chr14:76455277 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val) single nucleotide variant not provided [RCV001322395] Chr14:76083555 [GRCh38]
Chr14:76549898 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser) single nucleotide variant not provided [RCV001324893] Chr14:76083467 [GRCh38]
Chr14:76549810 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.445-3C>T single nucleotide variant not provided [RCV001323509] Chr14:76083224 [GRCh38]
Chr14:76549567 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.136_141del (p.44LT[1]) deletion not provided [RCV001373032] Chr14:75988961..75988966 [GRCh38]
Chr14:76455304..76455309 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.70C>T (p.Arg24Cys) single nucleotide variant not provided [RCV001341552] Chr14:75988900 [GRCh38]
Chr14:76455243 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu) single nucleotide variant not provided [RCV001302579] Chr14:76083490 [GRCh38]
Chr14:76549833 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.304A>G (p.Ile102Val) single nucleotide variant not provided [RCV001325369] Chr14:76082303 [GRCh38]
Chr14:76548646 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.143G>A (p.Gly48Glu) single nucleotide variant not provided [RCV001314613] Chr14:75988973 [GRCh38]
Chr14:76455316 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.296-5698C>T single nucleotide variant not provided [RCV001269833] Chr14:76076597 [GRCh38]
Chr14:76542940 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_001102564.3(IFT43):c.9T>C (p.Asp3=) single nucleotide variant not provided [RCV001412790] Chr14:75985795 [GRCh38]
Chr14:76452138 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.296-5661G>T single nucleotide variant not provided [RCV001365574] Chr14:76076634 [GRCh38]
Chr14:76542977 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_001102564.3(IFT43):c.445-11T>C single nucleotide variant not provided [RCV001413839] Chr14:76083216 [GRCh38]
Chr14:76549559 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.55-15T>A single nucleotide variant not provided [RCV001509723] Chr14:75988870 [GRCh38]
Chr14:76455213 [GRCh37]
Chr14:14q24.3
benign
NM_001102564.3(IFT43):c.24C>T (p.Asp8=) single nucleotide variant not provided [RCV001479423] Chr14:75985810 [GRCh38]
Chr14:76452153 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.483C>T (p.Leu161=) single nucleotide variant not provided [RCV001442488] Chr14:76083265 [GRCh38]
Chr14:76549608 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.147+18del deletion not provided [RCV001522785] Chr14:75988987 [GRCh38]
Chr14:76455330 [GRCh37]
Chr14:14q24.3
benign
NM_001102564.3(IFT43):c.369-18G>A single nucleotide variant not provided [RCV001429930] Chr14:76082599 [GRCh38]
Chr14:76548942 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.201C>T (p.Ser67=) single nucleotide variant not provided [RCV001408271] Chr14:76022380 [GRCh38]
Chr14:76488723 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.174_175delinsAT (p.Cys58_Arg59delinsTer) indel not provided [RCV001387647] Chr14:76022353..76022354 [GRCh38]
Chr14:76488696..76488697 [GRCh37]
Chr14:14q24.3
pathogenic
NM_001102564.3(IFT43):c.296-5713C>G single nucleotide variant not provided [RCV001393898] Chr14:76076582 [GRCh38]
Chr14:76542925 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.445-4A>G single nucleotide variant not provided [RCV001425896] Chr14:76083223 [GRCh38]
Chr14:76549566 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln) single nucleotide variant not provided [RCV001468631] Chr14:76082631 [GRCh38]
Chr14:76548974 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.54+15G>T single nucleotide variant not provided [RCV001509728] Chr14:75985855 [GRCh38]
Chr14:76452198 [GRCh37]
Chr14:14q24.3
benign
NM_001102564.3(IFT43):c.296-5617A>G single nucleotide variant not provided [RCV001497406] Chr14:76076678 [GRCh38]
Chr14:76543021 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.55-17T>C single nucleotide variant not provided [RCV001513000] Chr14:75988868 [GRCh38]
Chr14:76455211 [GRCh37]
Chr14:14q24.3
benign
NM_001102564.3(IFT43):c.411T>C (p.Asn137=) single nucleotide variant not provided [RCV001488172] Chr14:76082659 [GRCh38]
Chr14:76549002 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.312G>A (p.Pro104=) single nucleotide variant not provided [RCV001468614] Chr14:76082311 [GRCh38]
Chr14:76548654 [GRCh37]
Chr14:14q24.3
likely benign
NM_001102564.3(IFT43):c.169C>T (p.Arg57Cys) single nucleotide variant not provided [RCV001513558] Chr14:76022348 [GRCh38]
Chr14:76488691 [GRCh37]
Chr14:14q24.3
benign
NM_001102564.3(IFT43):c.507+9G>A single nucleotide variant not provided [RCV001437906] Chr14:76083298 [GRCh38]
Chr14:76549641 [GRCh37]
Chr14:14q24.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29669 AgrOrtholog
COSMIC IFT43 COSMIC
Ensembl Genes ENSG00000119650 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000238628 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000324177 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000440064 UniProtKB/Swiss-Prot
  ENSP00000451096 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000504736 UniProtKB/TrEMBL
Ensembl Transcript ENST00000238628 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000314067 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000542766 UniProtKB/Swiss-Prot
  ENST00000556742 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000679083 UniProtKB/TrEMBL
GTEx ENSG00000119650 GTEx
HGNC ID HGNC:29669 ENTREZGENE
Human Proteome Map IFT43 Human Proteome Map
InterPro IFT43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:112752 UniProtKB/Swiss-Prot
NCBI Gene 112752 ENTREZGENE
OMIM 614068 OMIM
  614099 OMIM
  617866 OMIM
  617871 OMIM
PANTHER PTHR33724 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IFT43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145149677 PharmGKB
UniProt A0A024R6A9 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V6B2_HUMAN UniProtKB/TrEMBL
  IFT43_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KPT6 UniProtKB/Swiss-Prot
  B4DZI9 UniProtKB/Swiss-Prot
  G3V385 UniProtKB/Swiss-Prot
  O95418 UniProtKB/Swiss-Prot
  Q9ULA9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-07-08 IFT43  intraflagellar transport 43  IFT43  intraflagellar transport 43 homolog (Chlamydomonas)  Symbol and/or name change 5135510 APPROVED
2011-07-27 IFT43  intraflagellar transport 43 homolog (Chlamydomonas)  C14orf179  chromosome 14 open reading frame 179  Symbol and/or name change 5135510 APPROVED