The BBS7 gene homepage

General information
Gene symbol	BBS7
Gene name	Bardet-Biedl syndrome 7
Chromosome	4
Chromosomal band	q27
Imprinted	Unknown
Genomic reference	NC_000004.11
Transcript reference	NM_018190.3, NM_176824.2, XM_005263106.1
Associated with diseases	RP (AR)
Citation reference(s)	-
Curators (1)	variome.ir
Total number of public variants reported	0
Unique public DNA variants reported	0
Individuals with public variants	0
Hidden variants	0
Date created	July 04, 2022

Links to other resources
HGNC	18758
Entrez Gene	55212
PubMed articles	BBS7
OMIM - Gene	607590
HGMD	BBS7
GeneCards	BBS7
GeneTests	BBS7
Orphanet	BBS7

Active transcripts

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How to query this table

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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
00000045	4	transcript variant 1	NM_176824.2	NP_789794.1
00000046	4	transcript variant 2	NM_018190.3	NP_060660.2
00000047	4	transcript variant X1	XM_005263106.1	XP_005263163.1

Copyright & disclaimer
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Iran Variome Retinitis Pigmentosa Database

BBS7 (Bardet-Biedl syndrome 7)