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SUSD1 (Sushi Domain Containing 1) is a Protein Coding gene. Diseases associated with SUSD1 include Seckel Syndrome 1 and Carpenter Syndrome 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SUSD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SUSD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SUSD1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Susd1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Susd1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | SUSD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SUSD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SUSD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | susd1 30 |
|
||
MGC75573 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | SUSD1 (2 of 3) 31 |
|
OneToMany | |
SUSD1 (1 of 3) 31 |
|
OneToMany | |||
SUSD1 (3 of 3) 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs115339119 | Benign: not provided | 112,157,606(-) |
G/A NM_022486.5(SUSD1):c.111C>T (p.Asp37=) |
SYNONYMOUS | |
rs143390223 | Benign: not provided | 112,143,473(-) |
G/A NM_022486.5(SUSD1):c.524C>T (p.Thr175Ile) |
MISSENSE | |
rs146611081 | Benign: not provided | 112,111,717(-) |
C/T NM_022486.5(SUSD1):c.1108G>A (p.Val370Met) |
MISSENSE | |
rs146843448 | Likely Benign: not provided | 112,041,911(-) |
C/T NM_022486.5(SUSD1):c.2199G>A (p.Leu733=) |
NONSENSE,SYNONYMOUS | |
rs147151457 | Likely Benign: not provided | 112,078,557(-) |
G/A NM_022486.5(SUSD1):c.1734C>T (p.Ser578=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4126n106 | CNV | deletion | 24896259 |
dgv494e215 | CNV | deletion | 23714750 |
esv1083675 | CNV | insertion | 17803354 |
esv2180224 | CNV | deletion | 18987734 |
esv2552622 | CNV | deletion | 19546169 |
esv2555427 | CNV | insertion | 19546169 |
esv2675703 | CNV | deletion | 23128226 |
esv2738945 | CNV | deletion | 23290073 |
esv2762828 | CNV | gain | 21179565 |
nsv1077175 | CNV | deletion | 25765185 |
nsv1137498 | CNV | deletion | 24896259 |
nsv415911 | CNV | deletion | 16902084 |
nsv615195 | CNV | loss | 21841781 |
nsv972800 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
seckel syndrome 1 |
|
|
carpenter syndrome 1 |
|
|