Kromosom 16
Kromosom 16 | |
---|---|
Ciri-ciri | |
Panjang (bp) | 96,330,374 bp (CHM13) |
Bilangan gen | 795 (CCDS)[1] |
Jenis | Autosom |
Kedudukan sentromer | Metasentrik[2] (36.8 Mbp[3]) |
Senarai gen lengkap | |
CCDS | Senarai gen |
HGNC | Senarai gen |
UniProt | Senarai gen |
NCBI | Gene list |
Pemidang peta luaran | |
Ensembl | Kromosom 16 |
Entrez | Kromosom 16 |
NCBI | Kromosom 16 |
UCSC | Kromosom 16 |
Jujukan DNA penuh | |
RefSeq | NC_000016 (FASTA) |
GenBank | CM000678 (FASTA) |
Kromosom 16 ialah salah satu daripada 23 pasang kromosom yang ditemui pada manusia. Kebiasanya manusia mempunyai dua salinan kromosom ini. Kromosom 16 merangkumi kira-kira 96 juta pasangan asas (bahan binaan DNA) dan mewakili hanya di kurang daripada 3% daripada jumlah DNA dalam sel.
Gen
[sunting | sunting sumber]Bilangan gen
[sunting | sunting sumber]Berikut adalah beberapa anggaran kiraan gen kromosom manusia 16. Oleh kerana penyelidik menggunakan pendekatan yang berbeza untuk anotasi genom bagi menganggar bilangan gen pada setiap kromosom berbeza-beza (untuk butiran teknikal, lihat penganggaran gen). Di antara pelbagai projek, projek jujukan pengekodan konsensus kolaboratif (CCDS) mengambil strategi yang sangat konservatif. Jadi ramalan nombor gen CCDS mewakili had yang lebih rendah pada jumlah bilangan gen pengekodan protein manusia. [4]
Dianggarkan oleh | Gen pengekodan protein | Gen RNA tanpa pengekodan | Pseudogen | Sumber | Tarikh keluaran |
---|---|---|---|---|---|
CCDS | 795 | — | — | [1] | 08-09-2016 |
HGNC | 802 | 251 | 365 | [5] | 2017-05-12 |
Ensembl | 865 | 1,046 | 462 | [6] | 29-03-2017 |
UniProt | 838 | — | — | [7] | 28-02-2018 |
NCBI | 912 | 652 | 502 | [8] [9] [10] | 19-05-2017 |
Penyakit dan gangguan
[sunting | sunting sumber]- Gangguan hiperaktif kekurangan perhatian (ADHD)
- Sindrom Asperger
- Gangguan spektrum autisme [11] [12]
- Penyakit buah pinggang polikistik dominan autosom (PKD-1)
- Penyakit Batten
- Gabungan asiduria malonik dan metilmalonik (CMAMMA)
- Demam Mediterranean keluarga (FMF)
- Sinestesia
- Talasemia
- Trisomi 16
- Sindrom Morquio
Ciri-ciri yang berkaitan
[sunting | sunting sumber]- Rambut merah
Jalur sitogenetik
[sunting | sunting sumber]Kromosom | Lengan | Jalur | Pemula ISCN[17] | Hentian ISCN[17] | Pemula pasangan bes | Hentian pasangan bes | Pewarnaan | Ketumpatan |
---|---|---|---|---|---|---|---|---|
16 | p | 13.3 | 0 | 352 | 1 | 800000 7 | gneg | |
16 | p | 13.2 | 352 | 596 | 800001 7 | 400000 10 | gpos | 50 |
16 | p | 13.13 | 596 | 813 | 400001 10 | 500000 12 | gneg | |
16 | p | 13.12 | 813 | 948 | 500001 12 | 700000 14 | gpos | 50 |
16 | p | 13.11 | 948 | 1070 | 700001 14 | 700000 16 | gneg | |
16 | p | 12.3 | 1070 | 1246 | 700001 16 | 200000 21 | gpos | 50 |
16 | p | 12.2 | 1246 | 1409 | 200001 21 | 200000 24 | gneg | |
16 | p | 12.1 | 1409 | 1558 | 200001 24 | 500000 28 | gpos | 50 |
16 | p | 11.2 | 1558 | 1856 | 500001 28 | 300000 35 | gneg | |
16 | p | 11.1 | 1856 | 2045 | 300001 35 | 800000 36 | acen | |
16 | q | 11.1 | 2045 | 2194 | 800001 36 | 400000 38 | acen | |
16 | q | 11.2 | 2194 | 2709 | 400001 38 | 000000 47 | gvar | |
16 | q | 12.1 | 2709 | 2953 | 000001 47 | 600000 52 | gneg | |
16 | q | 12.2 | 2953 | 3142 | 600001 52 | 000000 56 | gpos | 50 |
16 | q | 13 | 3142 | 3346 | 000001 56 | 300000 57 | gneg | |
16 | q | 21 | 3346 | 3657 | 300001 57 | 600000 66 | gpos | 100 |
16 | q | 22.1 | 3657 | 4023 | 600001 66 | 800000 70 | gneg | |
16 | q | 22.2 | 4023 | 4118 | 800001 70 | 800000 72 | gpos | 50 |
16 | q | 22.3 | 4118 | 4294 | 800001 72 | 100000 74 | gneg | |
16 | q | 23.1 | 4294 | 4551 | 100001 74 | 200000 79 | gpos | 75 |
16 | q | 23.2 | 4551 | 4659 | 200001 79 | 600000 81 | gneg | |
16 | q | 23.3 | 4659 | 4768 | 600001 81 | 100000 84 | gpos | 50 |
16 | q | 24.1 | 4768 | 4930 | 100001 84 | 000000 87 | gneg | |
16 | q | 24.2 | 4930 | 5025 | 000001 87 | 700000 88 | gpos | 25 |
16 | q | 24.3 | 5025 | 5120 | 700001 88 | 338345 90 | gneg |
Rujukan
[sunting | sunting sumber]- ^ a b "Search results - 16[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. 2016-09-08. Dicapai pada 2017-05-28.
- ^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. m/s. 45. ISBN 978-1-136-84407-2.
- ^ a b Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
- ^ Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes". Genome Biol. 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMC 2898077. PMID 20441615.
- ^ "Statistics & Downloads for chromosome 16". HUGO Gene Nomenclature Committee. 2017-05-12. Dicapai pada 2017-05-19.
- ^ "Chromosome 16: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Dicapai pada 2017-05-19.
- ^ "Human chromosome 16: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Dicapai pada 2018-03-16.
- ^ "Search results - 16[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Dicapai pada 2017-05-20.
- ^ "Search results - 16[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Dicapai pada 2017-05-20.
- ^ "Search results - 16[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Dicapai pada 2017-05-20.
- ^ Maillard, A M (25 November 2014). "The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity". Molecular Psychiatry. 20 (1): 140–147. doi:10.1038/mp.2014.145. PMC 4320286. PMID 25421402.
- ^ Richter, M (21 February 2018). "Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling". Molecular Psychiatry. 24 (9): 1329–1350. doi:10.1038/s41380-018-0025-5. PMC 6756231. PMID 29467497.
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
- ^ International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.
- ^ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). Estimation of band level resolutions of human chromosome images. In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on. m/s. 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8. S2CID 16666470.
- ^ a b Nilai ISCN adalah berdasarkan panjang jalur/ideograms daripada buku ISCN, An International System for Human Cytogenetic Nomenclature (2013). Nilai arbitrari.
Pautan luar
[sunting | sunting sumber]- National Institutes of Health. "Chromosome 16". Genetics Home Reference. Diarkibkan daripada yang asal pada August 3, 2004. Dicapai pada 2017-05-06.
- "Chromosome 16". Human Genome Project Information Archive 1990–2003. Dicapai pada 2017-05-06.