The FAM175A gene homepage

NOTE: gene name changed from FAM175A to ABRAXAS1

General information
Gene symbol	FAM175A
Gene name	family with sequence similarity 175, member A
Chromosome	4
Chromosomal band	q21.23
Imprinted	Unknown
Genomic reference	NC_000004.11
Transcript reference	NM_139076.2
Exon/intron information	NM_139076.2 exon/intron table
Associated with diseases	-
Citation reference(s)	-
Refseq URL	Genomic reference sequence
Curators (1)	Global Variome, with Curator vacancy
Total number of public variants reported	273
Unique public DNA variants reported	216
Individuals with public variants	597
Hidden variants	2
Download all this gene's data	Download all data
Notes	NOTE: gene name changed from FAM175A to ABRAXAS1 Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created	September 13, 2012
Date last updated	December 17, 2021
Version	FAM175A:211217

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_139076.2.
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/ABRAXAS1
HGNC	25829
Entrez Gene	84142
PubMed articles	FAM175A
OMIM - Gene	611143
HGMD	FAM175A
GeneCards	FAM175A
GeneTests	FAM175A
Orphanet	FAM175A

Active transcripts

Legend

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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
00000726	4	family with sequence similarity 175, member A	NM_139076.2	NP_620775.2	273

Copyright & disclaimer
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Global Variome shared LOVD

FAM175A (family with sequence similarity 175, member A)