Human genome

Human genome

- The human genome is the complete set of nucleic acid sequence for humans(Homo sapiens), encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Human genomes include both protein-coding DNA genes and noncoding DNA. 

- Difference : human individual(~0.1%), chimpanzees(~4%), 

- MicroRNA functions as a post-transcriptional regulator of gene expression. 

- Completeness of the human genome sequence : Although the human genome has been completely sequenced for all practical purposes, there are still hundreds of gaps in the sequence. A recent study noted more than 160 euchromatic gaps of which 50 gaps were closed. However, there are still numerous gaps in the heterochromatic parts of the genome which is much harder to sequence due to numerous repeats and other intractable sequence features.

 summarizes the physical organization and gene content of the human reference genome, with links to the original analysis, as published in the Ensembl database at the European Bioinformatics Institute (EBI) and Wellcome Trust Sanger Institute.

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Chromosome	Length (mm)	Base pairs	Variations	Confirmed proteins	Putative proteins	Pseudogenes	miRNA	rRNA	snRNA	snoRNA	Misc ncRNA	Links	Centromere position (Mbp)	Cumulative (%)
1	85	249,250,621	4,401,091	2,012	31	1,130	134	66	221	145	106	EBI	125.0	7.9
2	83	243,199,373	4,607,702	1,203	50	948	115	40	161	117	93	EBI	93.3	16.2
3	67	198,022,430	3,894,345	1,040	25	719	99	29	138	87	77	EBI	91.0	23.0
4	65	191,154,276	3,673,892	718	39	698	92	24	120	56	71	EBI	50.4	29.6
5	62	180,915,260	3,436,667	849	24	676	83	25	106	61	68	EBI	48.4	35.8
6	58	171,115,067	3,360,890	1,002	39	731	81	26	111	73	67	EBI	61.0	41.6
7	54	159,138,663	3,045,992	866	34	803	90	24	90	76	70	EBI	59.9	47.1
8	50	146,364,022	2,890,692	659	39	568	80	28	86	52	42	EBI	45.6	52.0
9	48	141,213,431	2,581,827	785	15	714	69	19	66	51	55	EBI	49.0	56.3
10	46	135,534,747	2,609,802	745	18	500	64	32	87	56	56	EBI	40.2	60.9
11	46	135,006,516	2,607,254	1,258	48	775	63	24	74	76	53	EBI	53.7	65.4
12	45	133,851,895	2,482,194	1,003	47	582	72	27	106	62	69	EBI	35.8	70.0
13	39	115,169,878	1,814,242	318	8	323	42	16	45	34	36	EBI	17.9	73.4
14	36	107,349,540	1,712,799	601	50	472	92	10	65	97	46	EBI	17.6	76.4
15	35	102,531,392	1,577,346	562	43	473	78	13	63	136	39	EBI	19.0	79.3
16	31	90,354,753	1,747,136	805	65	429	52	32	53	58	34	EBI	36.6	82.0
17	28	81,195,210	1,491,841	1,158	44	300	61	15	80	71	46	EBI	24.0	84.8
18	27	78,077,248	1,448,602	268	20	59	32	13	51	36	25	EBI	17.2	87.4
19	20	59,128,983	1,171,356	1,399	26	181	110	13	29	31	15	EBI	26.5	89.3
20	21	63,025,520	1,206,753	533	13	213	57	15	46	37	34	EBI	27.5	91.4
21	16	48,129,895	787,784	225	8	150	16	5	21	19	8	EBI	13.2	92.6
22	17	51,304,566	745,778	431	21	308	31	5	23	23	23	EBI	14.7	93.8
X	53	155,270,560	2,174,952	815	23	780	128	22	85	64	52	EBI	60.6	99.1
Y	20	59,373,566	286,812	45	8	327	15	7	17	3	2	EBI	12.5	100.0
mtDNA	0.0054	16,569	929	13	0	0	0	2	0	0	22	EBI	N/A	100.0
total		3,095,693,981		19,313	738	12,859

 

- coding seq : Protein-coding sequences represent the most widely studied and best understood component of the human genome.  About 20,000 human proteins have been annotated in databases such as Uniprot.

- Protein-coding capacity per chromosome. Protein-coding genes are distributed unevenly across the chromosomes, ranging from a few dozen to more than 2000, with an especially high gene density within chromosomes 19, 11, and 1

- non-coding DNA : Noncoding DNA is defined as all of the DNA sequences within a genome that are not found within protein-coding exons, and so are never represented within the amino acid sequence of expressed proteins. By this definition, more than 98% of the human genomes is composed of ncDNA.

 

https://en.wikipedia.org/wiki/Human_genome

https://www.genome.gov/

http://web.ornl.gov/sci/techresources/Human_Genome/project/info.shtml