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FAM124B (Family With Sequence Similarity 124 Member B) is a Protein Coding gene. Diseases associated with FAM124B include Galactosemia I and Charge Syndrome. An important paralog of this gene is FAM124A.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH02J224399 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE dbSUPER | 607.3 | +0.8 | 824 | 4.2 | JUND REST BRD9 HDAC1 SOX6 EP300 MGA ZNF766 HMBOX1 POLR2A | FAM124B ANKRD49P1 piR-35031-028 SERPINE2 | |
GH02J224433 | Promoter/Enhancer | 1 | EPDnew Ensembl ENCODE | 617 | -31.7 | -31693 | 1.2 | TEAD4 KDM1A YY1 POLR2A TAF1 NANOG SP1 POU5F1 CHD2 | FAM124B ANKRD49P1 CUL3 MG828602 HSALNG0022631 | |
GH02J224360 | Enhancer | 0.7 | Ensembl | 16.7 | +41.4 | 41406 | 1 | ZNF629 ZSCAN4 ZNF639 ZNF524 ZXDB ZEB1 CEBPB FOS ZSCAN5C OSR2 | FAM124B WDFY1 HSALNG0022625 MG828601 SERPINE2 | |
GH02J224442 | Promoter/Enhancer | 0.7 | FANTOM5 CraniofacialAtlas | 15.8 | -40.6 | -40583 | 0.4 | YY1 POLR2A | MG828602 FAM124B ANKRD49P1 HSALNG0022631 CUL3 | |
GH02J224369 | Enhancer | 0.7 | Ensembl ENCODE | 16.4 | +32.9 | 32915 | 0.4 | CTCF FOXA1 RAD21 FOXA2 SMC3 ZNF654 FOXA3 TRIM22 | FAM124B HSALNG0022625 RF00994-560 SERPINE2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IBA,IDA | -- |
GO:0005739 | mitochondrion | IDA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FAM124B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FAM124B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FAM124B 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fam124b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fam124b 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FAM124B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FAM124B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FAM124B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FAM124B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fam124b 30 |
|
||
Str.19998 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | LOC572460 30 |
|
||
FAM124B 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs3738954 | - | p.Ile257Thr |
Disorder | Aliases | PubMed IDs |
---|---|---|
galactosemia i |
|
|
charge syndrome |
|
|