MCID: CHR593
MIFTS: 50

Chromosome 16p13.3 Deletion Syndrome, Proximal

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Chromosome 16p13.3 Deletion Syndrome, Proximal

MalaCards integrated aliases for Chromosome 16p13.3 Deletion Syndrome, Proximal:

Name: Chromosome 16p13.3 Deletion Syndrome, Proximal 54 29 69
Rubinstein-Taybi Syndrome 12 72 23 50 24 25 56 29 13 52 42 14 69
Broad Thumb-Hallux Syndrome 12 72 50 25 56
Rsts 72 50 25
Broad Thumbs-Hallux Syndrome 23 24
Rubinstein Syndrome 12 50
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 50
Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion 56
Proximal Chromosome 16p13.3 Deletion Syndrome 12
Broad Thumbs-Halluces Syndrome 56
Rts 25

Characteristics:

Orphanet epidemiological data:

56
rubinstein-taybi syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

HPO:

32
chromosome 16p13.3 deletion syndrome, proximal:
Inheritance somatic mosaicism autosomal dominant contiguous gene syndrome
Mortality/Aging death in infancy


Classifications:



Summaries for Chromosome 16p13.3 Deletion Syndrome, Proximal

NIH Rare Diseases : 50 rubinstein-taybi syndrome (rts) is a syndrome characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. the syndrome may be caused by a mutation in the crebbp or ep300 gene, or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. in some people with rts, the cause is unknown. while rts can be inherited in an autosomal dominant manner, most cases result from a new (de novo) mutation in the responsible gene and are not inherited from a parent. treatment is symptomatic and supportive. last updated: 5/29/2017

MalaCards based summary : Chromosome 16p13.3 Deletion Syndrome, Proximal, also known as rubinstein-taybi syndrome, is related to rubinstein-taybi syndrome 2 and rubinstein-taybi syndrome 1, and has symptoms including short stature, strabismus and seizures. An important gene associated with Chromosome 16p13.3 Deletion Syndrome, Proximal is CREBBP (CREB Binding Protein), and among its related pathways/superpathways are Phospholipase-C Pathway and G-Beta Gamma Signaling. Affiliated tissues include heart, kidney and eye, and related phenotypes are craniofacial and embryo

Disease Ontology : 12 An autosomal dominant disease characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes; additionally it can include eye abnormalities, heart and kidney defects, dental problems and obesity.

Genetics Home Reference : 25 Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome.

Description from OMIM: 610543
GeneReviews: NBK1526

Related Diseases for Chromosome 16p13.3 Deletion Syndrome, Proximal

Diseases related to Chromosome 16p13.3 Deletion Syndrome, Proximal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
id Related Disease Score Top Affiliating Genes
1 rubinstein-taybi syndrome 2 12.5
2 rubinstein-taybi syndrome 1 12.5
3 ep300-related rubinstein-taybi syndrome 12.3
4 crebbp-related rubinstein-taybi syndrome 12.1
5 atypical teratoid rhabdoid tumor 11.6
6 rothmund-thomson syndrome 11.6
7 chromosome 16p13.3 deletion syndrome 11.5
8 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 11.2
9 floating-harbor syndrome 11.2
10 coffin-lowry syndrome 11.2
11 rapadilino syndrome 11.0
12 rhabdoid cancer 11.0
13 rett syndrome 10.9
14 dengue disease 10.7
15 rhabdoid tumors, somatic 10.7
16 congenital toxoplasmosis 10.7
17 keloids 10.4
18 renal glucosuria 10.3 CREBBP SRCAP
19 cervicitis 10.2
20 delusional disorder 10.2 CREBBP EP300
21 coloboma 10.2
22 scoliosis 10.2
23 hunter macpherson syndrome 10.1 CREB1 CREBBP EP300
24 hunter carpenter macdonald syndrome 10.1 CREB1 CREBBP EP300
25 thyroiditis 10.1
26 neuroblastoma 10.1
27 chiari malformation 10.1
28 medulloblastoma 10.1
29 congenital hypothyroidism 10.1
30 sleep apnea 10.1
31 slipped capital femoral epiphysis 10.1
32 obstructive sleep apnea 10.1
33 hypothyroidism 10.1
34 lupus - neurological sequelae 10.0 CREB1 CREBBP EP300
35 tricuspid atresia 9.9
36 nasopharyngitis 9.9
37 hepatoblastoma 9.9
38 cervical dermoid cyst 9.9
39 pheochromocytoma 9.9
40 pulmonary hypertension 9.9
41 imperforate anus 9.9
42 striate palmoplantar keratoderma 9.9
43 acute leukemia 9.9
44 meningoencephalitis 9.9
45 dermoid cyst 9.9
46 kimura disease 9.9
47 juvenile glaucoma 9.9
48 churg-strauss syndrome 9.9
49 pituitary hypoplasia 9.9
50 follicular lymphoma 9.9

Graphical network of the top 20 diseases related to Chromosome 16p13.3 Deletion Syndrome, Proximal:



Diseases related to Chromosome 16p13.3 Deletion Syndrome, Proximal

Symptoms & Phenotypes for Chromosome 16p13.3 Deletion Syndrome, Proximal

Clinical features from OMIM:

610543

Human phenotypes related to Chromosome 16p13.3 Deletion Syndrome, Proximal:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
5 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
6 low-set ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000369
7 irritability 56 32 frequent (33%) Frequent (79-30%) HP:0000737
8 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
9 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
10 polyhydramnios 56 32 occasional (7.5%) Occasional (29-5%) HP:0001561
11 glaucoma 56 32 frequent (33%) Frequent (79-30%) HP:0000501
12 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
13 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
14 telecanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000506
15 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
16 wide nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0000431
17 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
18 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
19 respiratory insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002093
20 downslanted palpebral fissures 56 32 hallmark (90%) Very frequent (99-80%) HP:0000494
21 high palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000218
22 joint hyperflexibility 56 32 hallmark (90%) Very frequent (99-80%) HP:0005692
23 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
24 feeding difficulties in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008872
25 capillary hemangiomas 56 32 occasional (7.5%) Occasional (29-5%) HP:0005306
26 anxiety 56 32 frequent (33%) Frequent (79-30%) HP:0000739
27 nasolacrimal duct obstruction 56 32 frequent (33%) Frequent (79-30%) HP:0000579
28 hip dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001385
29 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
30 keloids 56 32 occasional (7.5%) Occasional (29-5%) HP:0010562
31 broad thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0011304
32 carious teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000670
33 generalized hirsutism 56 32 frequent (33%) Frequent (79-30%) HP:0002230
34 attention deficit hyperactivity disorder 56 32 frequent (33%) Frequent (79-30%) HP:0007018
35 failure to thrive in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001531
36 convex nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000444
37 clubbing of toes 56 32 frequent (33%) Frequent (79-30%) HP:0100760
38 broad hallux phalanx 56 32 hallmark (90%) Very frequent (99-80%) HP:0010059
39 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
40 highly arched eyebrow 56 32 frequent (33%) Frequent (79-30%) HP:0002553
41 abnormality of the distal phalanx of finger 56 32 frequent (33%) Frequent (79-30%) HP:0009832
42 failure to thrive 32 HP:0001508
43 scoliosis 32 HP:0002650
44 brachydactyly 32 hallmark (90%) HP:0001156
45 recurrent infections 32 HP:0002719
46 myopia 32 HP:0000545
47 facial hypertrichosis 32 HP:0002219
48 prominent nose 32 HP:0000448
49 broad hallux 32 HP:0010055
50 obesity 32 HP:0001513

UMLS symptoms related to Chromosome 16p13.3 Deletion Syndrome, Proximal:


constipation, seizures

MGI Mouse Phenotypes related to Chromosome 16p13.3 Deletion Syndrome, Proximal:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 CREBBP EP300 GAS1 LRP4
2 embryo MP:0005380 9.43 CREB1 CREBBP EP300 GAS1 LRP4 MID1
3 respiratory system MP:0005388 9.02 CREB1 CREBBP EP300 GAS1 LRP4

Drugs & Therapeutics for Chromosome 16p13.3 Deletion Syndrome, Proximal

Search Clinical Trials , NIH Clinical Center for Chromosome 16p13.3 Deletion Syndrome, Proximal

Cochrane evidence based reviews: rubinstein-taybi syndrome

Genetic Tests for Chromosome 16p13.3 Deletion Syndrome, Proximal

Genetic tests related to Chromosome 16p13.3 Deletion Syndrome, Proximal:

id Genetic test Affiliating Genes
1 Rubinstein-Taybi Syndrome 29 24 EP300
2 Chromosome 16p13.3 Deletion Syndrome, Proximal 29

Anatomical Context for Chromosome 16p13.3 Deletion Syndrome, Proximal

MalaCards organs/tissues related to Chromosome 16p13.3 Deletion Syndrome, Proximal:

39
Heart, Kidney, Eye, Brain, Bone, Skin

Publications for Chromosome 16p13.3 Deletion Syndrome, Proximal

Variations for Chromosome 16p13.3 Deletion Syndrome, Proximal

ClinVar genetic disease variations for Chromosome 16p13.3 Deletion Syndrome, Proximal:

6 (show top 50) (show all 66)
id Gene Variation Type Significance SNP ID Assembly Location
1 CREBBP NM_004380.2(CREBBP): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434624 GRCh37 Chromosome 16, 3900690: 3900690
2 CREBBP NM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121434625 GRCh37 Chromosome 16, 3843534: 3843534
3 CREBBP NM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro) single nucleotide variant Pathogenic rs121434626 GRCh37 Chromosome 16, 3790400: 3790400
4 CREBBP CREBBP, 2-BP DEL, NT5222 deletion Pathogenic
5 CREBBP NM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys) single nucleotide variant Pathogenic rs28937315 GRCh37 Chromosome 16, 3807895: 3807895
6 CREBBP NM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys) single nucleotide variant Pathogenic rs267606752 GRCh37 Chromosome 16, 3799632: 3799632
7 CREBBP CREBBP, IVS21, A-T, -2 single nucleotide variant Pathogenic
8 CREBBP NM_004380.2(CREBBP): c.3982+1G> A single nucleotide variant Pathogenic rs398124145 GRCh37 Chromosome 16, 3794894: 3794894
9 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh38 Chromosome 16, 3728959: 3728959
10 CREBBP NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh38 Chromosome 16, 3729178: 3729178
11 CREBBP NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh38 Chromosome 16, 3729203: 3729213
12 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh38 Chromosome 16, 3729210: 3729210
13 CREBBP NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh38 Chromosome 16, 3729226: 3729226
14 CREBBP NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh38 Chromosome 16, 3731874: 3731874
15 CREBBP NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh38 Chromosome 16, 3736075: 3736075
16 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh38 Chromosome 16, 3736702: 3736702
17 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh38 Chromosome 16, 3736766: 3736766
18 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh38 Chromosome 16, 3736812: 3736812
19 CREBBP NM_004380.2(CREBBP): c.4133+1G> A single nucleotide variant Pathogenic rs587783491 GRCh38 Chromosome 16, 3740398: 3740398
20 CREBBP NM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter) single nucleotide variant Pathogenic rs587783490 GRCh38 Chromosome 16, 3740454: 3740454
21 CREBBP NM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter) single nucleotide variant Pathogenic rs587783489 GRCh38 Chromosome 16, 3740487: 3740487
22 CREBBP NM_004380.2(CREBBP): c.3983-2A> G single nucleotide variant Pathogenic rs587783486 GRCh38 Chromosome 16, 3740551: 3740551
23 CREBBP NM_004380.2(CREBBP): c.3836+1G> A single nucleotide variant Pathogenic rs200782888 GRCh37 Chromosome 16, 3799627: 3799627
24 CREBBP NM_004380.2(CREBBP): c.3779+1G> A single nucleotide variant Pathogenic rs587783483 GRCh38 Chromosome 16, 3751725: 3751725
25 CREBBP NM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter) single nucleotide variant Pathogenic rs587783482 GRCh38 Chromosome 16, 3757373: 3757373
26 CREBBP NM_004380.2(CREBBP): c.3369+1G> T single nucleotide variant Pathogenic rs587783480 GRCh38 Chromosome 16, 3758853: 3758853
27 CREBBP NM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter) single nucleotide variant Pathogenic rs587783479 GRCh38 Chromosome 16, 3758913: 3758913
28 CREBBP NM_004380.2(CREBBP): c.2791C> T (p.Gln931Ter) single nucleotide variant Pathogenic rs587783475 GRCh38 Chromosome 16, 3770659: 3770659
29 CREBBP NM_004380.2(CREBBP): c.2606_2607delTC (p.Leu869Profs) deletion Pathogenic rs587783473 GRCh37 Chromosome 16, 3820844: 3820845
30 CREBBP NM_004380.2(CREBBP): c.2535C> A (p.Cys845Ter) single nucleotide variant Pathogenic rs587783471 GRCh38 Chromosome 16, 3770915: 3770915
31 CREBBP NM_004380.2(CREBBP): c.2122_2123delCT (p.Leu708Valfs) deletion Pathogenic rs587783470 GRCh38 Chromosome 16, 3777648: 3777649
32 CREBBP NM_004380.2(CREBBP): c.2026delC (p.Gln676Lysfs) deletion Pathogenic rs587783469 GRCh38 Chromosome 16, 3778098: 3778098
33 CREBBP NM_004380.2(CREBBP): c.1821delA (p.Lys607Asnfs) deletion Pathogenic rs587783467 GRCh37 Chromosome 16, 3830735: 3830735
34 CREBBP NM_004380.2(CREBBP): c.1590delC (p.Asn530Lysfs) deletion Pathogenic rs587783465 GRCh38 Chromosome 16, 3781290: 3781290
35 CREBBP NM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs587783464 GRCh38 Chromosome 16, 3792041: 3792041
36 CREBBP NM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter) single nucleotide variant Pathogenic rs587783463 GRCh38 Chromosome 16, 3792054: 3792054
37 CREBBP NM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter) single nucleotide variant Pathogenic rs587783461 GRCh38 Chromosome 16, 3793446: 3793446
38 CREBBP NM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs587783460 GRCh38 Chromosome 16, 3793539: 3793539
39 CREBBP NM_004380.2(CREBBP): c.953C> A (p.Ser318Ter) single nucleotide variant Pathogenic rs587783516 GRCh37 Chromosome 16, 3860626: 3860626
40 CREBBP NM_004380.2(CREBBP): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783509 GRCh38 Chromosome 16, 3850497: 3850497
41 CREBBP NM_004380.2(CREBBP): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs587783478 GRCh37 Chromosome 16, 3900780: 3900780
42 CREBBP NM_004380.2(CREBBP): c.299delG (p.Gly100Valfs) deletion Pathogenic rs587783477 GRCh38 Chromosome 16, 3850796: 3850796
43 CREBBP NM_004380.2(CREBBP): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic rs587783476 GRCh38 Chromosome 16, 3850809: 3850809
44 CREBBP NM_004380.2(CREBBP): c.86-2A> C single nucleotide variant Pathogenic rs587783515 GRCh38 Chromosome 16, 3851011: 3851011
45 CREBBP NM_004380.2(CREBBP): c.2685delC (p.Gln897Argfs) deletion Pathogenic rs794727124 GRCh37 Chromosome 16, 3820766: 3820766
46 CREBBP NM_004380.2(CREBBP): c.3993delC (p.Thr1332Glnfs) deletion Pathogenic rs794727391 GRCh38 Chromosome 16, 3740539: 3740539
47 CREBBP NM_004380.2(CREBBP): c.(?_-23)_85+?del deletion Pathogenic GRCh38 Chromosome 16, 3879832: 3879939
48 CREBBP NM_004380.2(CREBBP): c.6395_6417dup23 (p.Gln2140Alafs) duplication Pathogenic rs797045500 GRCh38 Chromosome 16, 3728630: 3728652
49 CREBBP NM_004380.2(CREBBP): c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs) deletion Pathogenic rs797045499 GRCh38 Chromosome 16, 3728931: 3728940
50 CREBBP NM_004380.2(CREBBP): c.5936_5937insT (p.Ser1980Glnfs) insertion Pathogenic rs797045498 GRCh38 Chromosome 16, 3729110: 3729111

Copy number variations for Chromosome 16p13.3 Deletion Syndrome, Proximal from CNVD:

7 (show all 14)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13809 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
2 97337 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
3 97338 16 1 6300000 Copy number CREBBP Rubinstein-Taybi syndrome
4 97343 16 1 6300000 Deletion CREB-binding Rubinstein-Taybi syndrome
5 97344 16 1 6300000 Deletion gene Rubinstein-Taybi syndrome
6 97345 16 1 6300000 Deletion protein Rubinstein-Taybi syndrome
7 97361 16 1 6300000 Microdeletion Rubinstein-Taybi syndrome
8 97362 16 1 6300000 Microdeletion Rubinstein-Taybi syndrome
9 101412 16 3651083 3771464 Microdeletion Crebbp Rubinstein-Taybi syndrome
10 101413 16 3651083 3771464 Microdeletion Trap1 Rubinstein-Taybi syndrome
11 101433 16 3715056 3870122 Copy number CREBBP Rubinstein-Taybi syndrome
12 101452 16 3726327 3728439 Deletion CREBBP Rubinstein-Taybi syndrome
13 164836 22 39892913 39898247 Deletion EP300 Rubinstein-Taybi syndrome
14 222428 7 15200000 19500000 Microdeletion Rubinstein-Taybi syndrome

Expression for Chromosome 16p13.3 Deletion Syndrome, Proximal

Search GEO for disease gene expression data for Chromosome 16p13.3 Deletion Syndrome, Proximal.

Pathways for Chromosome 16p13.3 Deletion Syndrome, Proximal

Pathways related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:

(show all 29)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 ADCY9 CREB1 CREBBP EP300 GAS1
2
Show member pathways
12.69 ADCY9 CREB1 CREBBP EP300
3 12.14 ADCY9 CREB1 CREBBP EP300
4
Show member pathways
12.12 CREB1 CREBBP EP300
5 12.08 CREB1 CREBBP EP300
6
Show member pathways
12.03 CREB1 CREBBP EP300
7 12.02 CREB1 CREBBP EP300
8
Show member pathways
12 CREBBP EP300 IL11RA
9
Show member pathways
11.98 CREB1 CREBBP EP300
10
Show member pathways
11.98 ADCY9 CREB1 CREBBP EP300
11 11.96 CREB1 CREBBP EP300
12
Show member pathways
11.76 ADCY9 CREB1 CREBBP EP300
13 11.7 CREB1 CREBBP EP300
14 11.63 CREB1 CREBBP EP300
15 11.57 CREB1 CREBBP EP300
16 11.52 CREB1 CREBBP EP300
17 11.4 CREBBP EP300 SRCAP
18 11.36 CREB1 CREBBP EP300
19
Show member pathways
11.23 CREBBP EP300
20 11.23 CREBBP EP300
21 11.2 CREBBP EP300
22
Show member pathways
11.18 CREBBP EP300
23 11.17 CREB1 CREBBP EP300
24 11.14 CREBBP EP300
25 10.92 CREB1 CREBBP
26 10.89 CREBBP EP300
27 10.88 CREBBP EP300
28
Show member pathways
10.83 CREB1 CREBBP EP300
29 10.37 CREBBP EP300 GAS1

GO Terms for Chromosome 16p13.3 Deletion Syndrome, Proximal

Cellular components related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 histone acetyltransferase complex GO:0000123 8.62 CREBBP EP300

Biological processes related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.62 CREB1 CREBBP EP300 SRCAP
2 response to hypoxia GO:0001666 9.58 CREB1 CREBBP EP300
3 rhythmic process GO:0048511 9.43 CREB1 CREBBP EP300
4 regulation of smoothened signaling pathway GO:0008589 9.37 CREBBP GAS1
5 protein acetylation GO:0006473 9.16 CREBBP EP300
6 histone acetylation GO:0016573 9.13 CREBBP EP300 SRCAP
7 N-terminal peptidyl-lysine acetylation GO:0018076 8.62 CREBBP EP300

Molecular functions related to Chromosome 16p13.3 Deletion Syndrome, Proximal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription cofactor activity GO:0003712 9.43 CREB1 CREBBP EP300
2 histone acetyltransferase activity GO:0004402 9.33 CREBBP EP300 SRCAP
3 acetyltransferase activity GO:0016407 9.32 CREBBP EP300
4 RNA polymerase II activating transcription factor binding GO:0001102 9.13 CREB1 CREBBP EP300
5 peptide N-acetyltransferase activity GO:0034212 8.62 CREBBP EP300

Sources for Chromosome 16p13.3 Deletion Syndrome, Proximal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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