MutHTP数据库: Mutations in Human Tr

MutHTP数据库是今年在『Bioinformatics』杂志上发表的一个数据库，我今天介绍一下这个数据库。

惯例先给出文章、网址
文章：MutHTP: Mutations in Human Transmembrane Proteins
网址：https://www.iitm.ac.in/bioinfo/MutHTP/index.php

一、数据库简介

1. 跨膜蛋白

跨膜蛋白有多种功能，参与细胞信号传导、细胞粘附、分子和离子跨膜运输、能量生成等。大约有20%-30%的人类基因编码膜蛋白，其中约60%可以作为药物靶标。膜蛋白的突变及异常活动会导致许多不同的发育障碍和疾病，包括多种癌症、神经退行性疾病、囊性纤维化、糖尿病等。

2. 数据来源

HumSavar

http://www.uniprot.org/docs/humsavar
an index of human polymorphisms and disease mutations

SwissVar

https://swissvar.expasy.org
SwissVar portal provides access to a collection of single amino acid polymorphisms and diseases in the UniProtKB/Swiss-Prot database

1000 Genomes

http://www.internationalgenome.org
1000 Genomes provides a resource of human genetic variation

ExAC

http://exac.broadinstitute.org
seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects, and to make summary data available for the wider scientific community.
需要注意的是ExAC目前升级为GnomAD数据库；

COSMIC

http://cancer.sanger.ac.uk/cosmic
COSMIC, the Catalogue Of Somatic Mutations In Cancer, is the world's largest and most comprehensive resource for exploring the impact of somatic mutations in human cancer.

ClinVar

https://www.ncbi.nlm.nih.gov/clinvar/
ClinVar reports the relationship among human variations and phenotypes, with supporting evidence

二、数据库使用

数据库主页如下：

Figure 1

1. Search

点击主页上的『Search』，

Figure 2

2. Statistics

点击主页上的『Statistics』选项，得到下图，该页面提供了整个数据库的统计信息，里面包含多个表格。

Figure 3-1

我们一一解释每个表格：

Figure 3-2
Figure 3-3
Figure 3-4
Figure 3-5
Figure 3-6

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3. Tutorial

这里提供了两个例子

1. How to extract missense mutations from MutHTP?
2. How to get disease specific mutations from MutHTP?
3. How to extract membrane region mutations in MutHTP?

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4. Downloads

需要填入一些信息，我就不尝试了，反正很多时候查一下就行了，不需要下载。

Figure 4

三、示例

(1)How to extract missense mutations from MutHTP?

Figure 5-1
Figure 5-2

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最后给出一个题目，各位可以尝试做一下

如何得到与疾病相关的EGFR基因插入突变？

欢迎各位关注我的微信公众号『生信family』

生信family