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TMEM94 (Transmembrane Protein 94) is a Protein Coding gene. Diseases associated with TMEM94 include Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies and Body Dysmorphic Disorder.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KIAA0195 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KIAA0195 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KIAA0195 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KIAA0195 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | 2310067B10Rik 30 31 |
|
OneToOne | |
Tmem94 17 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | KIAA0195 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KIAA0195 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KIAA0195 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kiaa0195 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkeyp-67e6.4 31 |
|
OneToOne | |
LOC795408 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000576 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | l(2)k05819 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | D1007.15 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
915311 | Pathogenic: Intellectual developmental disorder with cardiac defects and dysmorphic facies | 75,492,477(+) |
C/T NM_014738.6(TMEM94):c.1600C>T (p.Gln534Ter) |
NONSENSE | |
rs1163944538 | Pathogenic: TMEM94-related condition; Intellectual developmental disorder with cardiac defects and dysmorphic facies | 75,494,905(+) |
G/GA NM_014738.6(TMEM94):c.2605dup (p.Met869fs) |
FRAMESHIFT | |
rs1352010373 | Pathogenic: TMEM94-related condition; Intellectual developmental disorder with cardiac defects and dysmorphic facies | 75,489,265(+) |
G/C NM_014738.6(TMEM94):c.765-1G>C |
SPLICE_ACCEPTOR | |
rs143232832 | Benign: not provided | 75,498,936(+) |
G/A NM_014738.6(TMEM94):c.3852G>A (p.Thr1284=) |
SYNONYMOUS | |
rs1567950778 | Pathogenic: Intellectual developmental disorder with cardiac defects and dysmorphic facies | 75,489,310(+) |
AC/A NM_014738.6(TMEM94):c.810del (p.Asp270fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3582912 | CNV | loss | 25503493 |
esv3641265 | CNV | gain | 21293372 |
nsv1138579 | CNV | deletion | 24896259 |
nsv470603 | CNV | loss | 18288195 |
nsv476677 | CNV | novel sequence insertion | 20440878 |
nsv516133 | CNV | loss | 19592680 |
nsv576027 | CNV | gain | 21841781 |
nsv833541 | CNV | loss | 17160897 |
nsv833542 | CNV | loss | 17160897 |
nsv952368 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
intellectual developmental disorder with cardiac defects and dysmorphic facies |
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|
body dysmorphic disorder |
|
|
hypertrichosis |
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