The IFT43 gene homepage

General information
Gene symbol	IFT43
Gene name	intraflagellar transport 43 homolog (Chlamydomonas)
Chromosome	14
Chromosomal band	q24.3
Imprinted	Unknown
Genomic reference	NG_031957.1
Transcript reference	NM_052873.2
Exon/intron information	NM_052873.2 exon/intron table
Associated with diseases	CED, CED3, RP81, SRTD, SRTD18, retinal disease
Citation reference(s)	-
Refseq URL	Genomic reference sequence
Curators (1)	Global Variome, with Curator vacancy
Total number of public variants reported	57
Unique public DNA variants reported	46
Individuals with public variants	16
Hidden variants	4
Download all this gene's data	Download all data
Notes	Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created	May 03, 2013
Date last updated	July 07, 2023
Version	IFT43:230707

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
Reading frame checker	The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_052873.2.
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL	https://www.LOVD.nl/IFT43
HGNC	29669
Entrez Gene	112752
PubMed articles	IFT43
OMIM - Gene	614068
OMIM - Diseases	CED3 (dysplasia, cranioectodermal, type 3 (CED3)) RP81 (retinitis pigmentosa, type 81 (RP81)) SRTD18 (dysplasia, short-rib thoracic, type 18 with polydactyly (SRTD18))
HGMD	IFT43
GeneCards	IFT43
GeneTests	IFT43
Orphanet	IFT43

Active transcripts

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00009851	14	transcript variant 1	NM_052873.2	NP_443105.2	57

Copyright & disclaimer
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Global Variome shared LOVD

IFT43 (intraflagellar transport 43 homolog (Chlamy...))