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ANKMY1 (Ankyrin Repeat And MYND Domain Containing 1) is a Protein Coding gene. Diseases associated with ANKMY1 include Venous Hemangioma and Sleeping Sickness.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
Symbol | External ID(s) | Details |
---|---|---|
RBPMS |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ANKMY1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ANKMY1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ankmy1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ankmy1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | ANKMY1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | ANKMY1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ANKMY1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ANKMY1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ankmy1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ankmy1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs140796181 | Benign: not provided | 240,500,539(-) |
G/A NM_001282771.3(ANKMY1):c.2553C>T (p.Ala851=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs145705338 | Benign: not provided | 240,524,238(-) |
G/A NM_001282771.3(ANKMY1):c.1479C>T (p.Arg493=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON | |
rs150525285 | Benign: not provided | 240,529,333(-) |
G/T NM_001282771.3(ANKMY1):c.657C>A (p.Ala219=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON | |
rs72998048 | Likely Benign: not provided | 240,529,188(-) |
G/T NM_001282771.3(ANKMY1):c.802C>A (p.His268Asn) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON | |
rs74001686 | Benign: not provided | 240,529,355(-) |
C/G NM_001282771.3(ANKMY1):c.635G>C (p.Ser212Thr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1184193 | CNV | insertion | 17803354 |
esv2721934 | CNV | deletion | 23290073 |
esv2759119 | CNV | gain | 17122850 |
esv3561297 | CNV | deletion | 23714750 |
esv3575343 | CNV | gain | 25503493 |
esv3594801 | CNV | gain | 21293372 |
esv3594802 | CNV | gain | 21293372 |
esv3594803 | CNV | loss | 21293372 |
esv5720 | OTHER | inversion | 19470904 |
nsv1001262 | CNV | gain | 25217958 |
nsv10226 | CNV | gain | 18304495 |
nsv1160908 | CNV | duplication | 26073780 |
nsv3239 | CNV | insertion | 18451855 |
nsv438384 | CNV | loss | 16468122 |
nsv508899 | CNV | insertion | 20534489 |
nsv515975 | CNV | gain | 19592680 |
nsv819352 | CNV | loss | 19587683 |
nsv821937 | CNV | gain | 20364138 |
nsv834586 | CNV | loss | 17160897 |
nsv955289 | CNV | deletion | 24416366 |
nsv955290 | CNV | deletion | 24416366 |
nsv956688 | CNV | deletion | 24416366 |
nsv997288 | CNV | gain | 25217958 |
nsv999050 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
venous hemangioma |
|
|
sleeping sickness |
|
|
rapp-hodgkin syndrome |
|
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