RAPID: Resource of Primary Immunodeficiency Diseases

Last updated on May 20, 2013

PhenomeR

SciNetS

Global distribution
Mutation data

Mutation Type

S.No.	Mutation types	No. of genes	No. of entries
1	Complex	1	1
2	Deletion	147	1434
3	Deletion, Insertion	1	1
4	Deletion-Insertion	31	110
5	Duplications	57	272
6	Duplications, Deletion	1	1
7	Insertion	55	213
8	Inversions	2	2
9	Substitutions	220	5599
10	Substitutions, Substitutions	1	1
11	Translocations	1	1

Mutation Effects

S.No.	Mutation effects	No. of genes	No. of entries
1	Amino acid deletion	55	166
2	Amino acid duplication	4	6
3	Amino acid insertion	7	10
4	Exon skipping	35	100
5	Frameshift	134	1453
6	Missense defects	173	3430
7	No transcript	10	21
8	Nonsense defects	140	1337
9	Regulatory defects	11	23
10	Splice anomalies	97	955
11	Splice donor defects	59	396
12	Splice acceptor defects	45	190
13	Start codon defects	10	20
14	Stop codon defects	11	18

Sequence Features

S.No.	Sequence Features	No. of genes	No. of entries
1	Exon	221	6592
2	Intron	95	873
3	Promoter	5	50
4	5 prime UTR	4	6
5	3 prime UTR	5	5

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This is a joint Project between RIKEN, Japan and Institute of Bioinformatics, India.

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