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This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]
FOXI1 (Forkhead Box I1) is a Protein Coding gene. Diseases associated with FOXI1 include Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct and Pendred Syndrome. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is FOXF2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH05J170105 | Promoter | 0.5 | EPDnew | 600.7 | 0.0 | -19 | 0.1 | ZNF512 KLF1 | FOXI1 MIR378E INSYN2B | |
GH05J170106 | Promoter | 0.4 | Ensembl | 611.5 | +0.4 | 404 | 0.2 | SCRT2 | FOXI1 RF01061-141 C5orf58 | |
GH05J170103 | Enhancer | 0.3 | dbSUPER | 611.6 | -1.9 | -1854 | 0.9 | CEBPG MZF1 | FOXI1 MIR378E INSYN2B | |
GH05J170132 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 21.7 | +29.9 | 29904 | 8 | HES1 CTBP1 NFE2 NR3C1 CREB1 MNT FOSL1 MAFG NR2F2 SPI1 | FOXI1 KCNIP1-OT1 KCNMB1 lnc-LCP2-5 KRT18P41 C5orf58 | |
GH05J170143 | Enhancer | 0.7 | Ensembl dbSUPER | 21.8 | +39.8 | 39804 | 0.6 | CTBP1 USF1 FOSL1 TOE1 FOS RAD51 USF2 L3MBTL2 ESRRA | FOXI1 HSALNG0046488 HSALNG0046490 C5orf58 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | ISS | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 19214237 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 19214237 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IC | 19214237 |
GO:0005730 | nucleolus | IDA | -- |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0009653 | anatomical structure morphogenesis | IBA | 21873635 |
GO:0009792 | embryo development ending in birth or egg hatching | NAS | 7957066 |
GO:0030154 | cell differentiation | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FOXI1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FOXI1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FOXI1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Foxi1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Foxi1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FOXI1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FOXI1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FOXI1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FOXI1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | foxi1 30 |
|
||
MGC75815 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | foxi1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | foxi3b 30 31 |
|
OneToMany | |
foxi3a 31 |
|
OneToMany | |||
foxi2 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | croc 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
724989 | Likely Benign: not provided | 170,108,602(+) | C/T | SYNONYMOUS_VARIANT | |
732607 | Likely Benign: not provided | 170,106,425(+) | C/T | SYNONYMOUS_VARIANT | |
737313 | Conflicting Interpretations: Enlarged vestibular aqueduct; not provided | 170,106,485(+) | G/A | SYNONYMOUS_VARIANT | |
768050 | Benign: Enlarged vestibular aqueduct; not provided | 170,108,488(+) | G/A | SYNONYMOUS_VARIANT | |
776592 | Likely Benign: not provided | 170,106,088(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 4, with enlarged vestibular aqueduct |
|
|
pendred syndrome |
|
|
renal tubular acidosis, distal, autosomal recessive |
|
|
inner ear disease |
|
|
pendred syndrome/nonsyndromic enlarged vestibular aqueduct |
|
|