• KNOWLEDGE PORTAL

USH 1B

Frequency 14%
56.000 patients

Gene name: MYO7A (also known as: DFNA11, DFNB2, NSRD2 or USH1B)
Gene size: 7483 (bp)

Protein name: Myosin 7A

Protein size: 2215 (aa)

There are 14 different transcripts known for this gene

USH 1C

Frequency 2%
8.000 patients

Gene name: USH1C (also known as: AIE-75, DFNB18, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C and harmonin)

Gene size: 3241 (bp)

Protein name: Harmonin

Protein size: 899 (aa)

There are 11 different transcripts known for this gene

USH 1D

Frequency 7,5%
30.000 patients

Gene name: CDH23 (also known as: CDHR23, DFNB12, USH1D)

Gene size: 11.138 (bp)

Protein name: Cadherin-23

Protein size: 3354 (aa)

There are 19 different transcripts known for this gene

USH 1F

Frequency 4,5%
18.000 patients

Gene name: PCDH15 (also known as: CDHR15, DFNB23, USH1F)

Gene size: 9237 (bp)

Protein name: Protocadherin-15

Protein size: 1677 (aa)

There are 36 different transcripts known for this gene

USH 1G

Frequency 2%
8.000 patients

Gene name: USH1G (also known as: SANS)

Gene size: 3558 (bp)

Protein name: Usher syndrome type-1G protein

Protein size: 461 (aa)

There are 2 different transcripts known for this gene

USH 1J

Frequency <1%. 400 patients Gene name: CIB2 (a;so known as: DFNB48, KIP2, USH1J)

Gene size: 1511 (bp)

Protein name: CIB2

Protein size: 144 (aa)

There are 10 different transcripts known for this gene

USH 2A

Frequency 52%
208.000 patients

Gene name: USH2A (also known as: A930011D15Rik, A930037M10Rik, LOC269160, LOC381317, MUSH2A, Ush2a, Ushrn)

Gene size: 15.695 (bp)

Protein name: Usherin

Protein size: 5193 (aa)

There are 5 different transcripts known for this gene

USH 2C

Frequency 10%
40.000 patients

Gene name: ADGRV1 (oalso known as: DKFZp761P0710, FEB4, GPR98, KIAA0686, MASS1, USH2C, VLGR1)

Gene size: 19.557 (bp)

Protein name: ADGRV1

Protein size: 6306 (aa)

There are 37 different transcripts known for this gene

USH 2D

Frequency 3%
12.000 patients

Gene name: WHRN (also known as: CIP98, DFNB31, PDZD7B, USH2D)

Gene size: 4070 (bp)

Protein name: Whirlin

Protein size: 907 (aa)

There are 9 different transcripts known for this gene

USH 3

Frequency 3%
12.000 patients

Gene name:  CLRN1 (also known as: RP61, USH3, USH3A)

Gene size: 2359 (bp)

Protein name: Clarin-1

Protein size: 232 (aa)

There are 8 different transcripts known for this gene

FROM GENE TO PROTEIN

A gene size is indicated by base pair (bp) of nucleotides. A base pair (1 bp) provides 2 bits of information. The hereditary material, DNA, consists of a very long, double chain of base pairs in the shape of a double helix.

SEARCH DATABASES

There are 3 databases where geneticists, scientists and specialists can consult all information about mutations, transcripts and gene locations. These are publicly accessible. These databases always search for the gene name.

OMIM = a database describing all human disease-causing mutations

ENSEMBL = a database with all gene and protein information

LOVD = Global Leiden Open Variation Database.