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Tbio Chromodomain-helicase-DNA-binding protein 7

Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

 Comments

Property Summary

NCBI Gene PubMed Count 99
PubMed Score 788.79
PubTator Score 321.66

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Choanal Atresia 42
Cryptorchidism 296
Esophageal atresia 43
Intellectual disability 1016
Abnormality of aortic valve 9
Abnormality of body height 13
Abnormality of female internal genitalia 13
Abnormality of the inner ear 2
Abnormality of the soft palate 3
Abnormality of the voice 46
Abnormally small eyeball 97
Absence of eyebrows 31
Absence of pubertal development 17
Absence of secondary sex characteristics 22
Alopecia 115
Anophthalmos 13
Anosmia 22
Anterior hypopituitarism 18
Anxiety 136
Anxiety disease 113
Aortic arch dilatation 3
Aplasia/Hypoplasia of the earlobes 10
Aplasia/Hypoplasia of the eyebrow 31
Aplasia/Hypoplasia of the thymus 4
Atrial Septal Defects 85
Attention deficit hyperactivity disorder 278
Atypical lymphocyte observed 10
Autistic Disorder 364
Bell Palsy 58
Bifid scrotum 16
Blepharoptosis 231
CHOANAL ATRESIA, POSTERIOR 2
CLEFT CHIN 9
Chronic diarrhea 29
Cleft Lip 141
Cleft Palate 271
Coloboma of iris 38
Concave bridge of nose 195
Congenital deafness 185
Congenital hypoplasia of breast 25
Congenital hypoplasia of ovary 30
Congenital hypoplasia of penis 176
Congenital ocular coloboma (disorder) 40
Deafness 198
Decreased bone mineral density Z score 31
Decreased fertility 33
Decreased size of eyeball 97
Decreased testosterone in males 28
Deglutition Disorders 132
Delayed Puberty 97
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive disorder 409
Desquamation of skin soon after birth 10
Diffusely thickened skin 20
Double Outlet Right Ventricle 11
Downward slant of palpebral fissure 158
Dry skin 75
Dull intelligence 645
Duodenal atresia 6
Edema 81
Eosinophilia 28
Erectile abnormalities 16
Erectile dysfunction 32
Eunuchoid habitus 14
Exfoliative dermatitis 24
Facial Paresis 59
Facial asymmetry 32
Facial muscle weakness of muscles innervated by CN VII 58
Failure to gain weight 365
Feeding difficulties 127
Female hypogonadism syndrome 25
Fever 138
Fundus coloboma 18
Gastroesophageal reflux disease 110
Generalized osteopenia 99
Gynecomastia 64
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 1
Hearing Loss, Partial 185
Heart Septal Defects 24
Heartburn 78
Hepatomegaly 285
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Horseshoe Kidney 16
Hydronephrosis 89
Hypocalcemia 32
Hypogonadism, Isolated Hypogonadotropic 71
Hypoplastic ovary 30
Hypothalamic gonadotropin-releasing hormone deficiency 14
Hypothyroidism 122
Hypotrophic malar bone 129
Idiopathic hypogonadotropic hypogonadism 21
Increased female libido 13
Infantile uterus 23
Interrupted aortic arch 4
Isolated cases 72
Kallmann Syndrome 2 (disorder) 18
Labial hypoplasia 3
Late tooth eruption 61
Low intelligence 645
Low-set, posteriorly rotated ears 110
Lymphadenopathy 62
Lymphopenia 67
Malar flattening 129
Malformed pinnae 37
Mental Retardation 645
Mental deficiency 645
Microphthalmos 100
Microstomia 78
Muscle hypotonia 571
Narrow face 54
Non-obstructive azoospermia 21
Nystagmus 317
Obsessive compulsive behavior 25
Optic Atrophy 242
Osteopenia 99
Osteoporosis 363
Overfolded helix 24
Pachyderma 20
Parathyroid hypoplasia 3
Patent ductus arteriosus 90
Pediatric failure to thrive 365
Phenotypic variability 150
Pneumonia 174
Polyhydramnios 108
Poor school performance 645
Postnatal growth retardation 57
Primary physiologic amenorrhea 55
Pruritus 58
Pulmonary Stenosis 45
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 1
Secondary physiologic amenorrhea 32
Sense of smell impaired 21
Severe combined immunodeficiency 51
Small testicle 75
Sparse body hair 32
Sparse or absent eyebrows 31
Sparse/absent eyebrows 31
Splenomegaly 190
Square face 3
Strabismus 270
Testicular hypogonadism 21
Tetralogy of Fallot 67
Thin face 54
Thymic hypoplasia or aplasia 4
Tracheoesophageal Fistula 36
Umbilical hernia 93
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Wide spaced nipples 46
Xerosis 75
hearing impairment 199
obsessive-compulsive disorder 61
Disease Target Count P-value
pancreatic ductal adenocarcinoma liver metastasis 1962 5.5e-04
Disease Target Count Z-score Confidence
Klinefelter's syndrome 56 0.0 4.0

Expression

  Differential Expression (1)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... 1.510 5.5e-04

Synonym

Accession Q9P2D1 D0VBA5 E9PNZ2 Q05DI5 Q2TAN4 Q66K35 Q7Z6C0 Q7Z7Q2 Q9NXA0 Q9NXA3 CHD-7
Symbols CRG
HH5
IS3
KAL5

Gene

CHD7

PDB

2CKC   2V0E   2V0F  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (22)

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 GO Function (5)

 GO Component (2)

 GO Process (42)

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 Compartment GO Term (25)

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 IMPC Phenotype (13)

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 OMIM Phenotype (2)

 MGI Phenotype (21)

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 GWAS Trait (19)

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 HCA RNA Cell Line (56)

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Pathway (2)

Gene RIF (82)

AA Sequence 

MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFASLQPSLHHPSTNQNQTKLTHFD      1 - 70
HYNQYEQQKMHLMDQPNRMMSNTPGNGLASPHSQYHTPPVPQVPHGGSGGGQMGVYPGMQNERHGQSFVD     71 - 140
SSSMWGPRAVQVPDQIRAPYQQQQPQPQPPQPAPSGPPAQGHPQHMQQMGSYMARGDFSMQQHGQPQQRM    141 - 210
SQFSQGQEGLNQGNPFIATSGPGHLSHVPQQSPSMAPSLRHSVQQFHHHPSTALHGESVAHSPRFSPNPP    211 - 280
QQGAVRPQTLNFSSRSQTVPSPTINNSGQYSRYPYSNLNQGLVNNTGMNQNLGLTNNTPMNQSVPRYPNA    281 - 350
VGFPSNSGQGLMHQQPIHPSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGI    351 - 420
PMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQSRPFIGMSSAPRELTGHMRPNGCPGVGLGDPQA    421 - 490
IQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHHQSSPPHPHHQPWAQLHPSPQNTPQKVPVHQHSPSE    491 - 560
PFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIVAEDPSKGFGKDDFPGGVDNQELN    561 - 630
RNSLDGSQEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKAPKIPKEPKEKKAKTATPKPKSSKKSSN    631 - 700
KKPDSEASALKKKVNKGKTEGSENSDLDKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDE    701 - 770
EADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKESGEEVEIEEFYVKYKNFSYLHCQW    771 - 840
ASIEDLEKDKRIQQKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEPVTHYLVKWCS    841 - 910
LPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLL    911 - 980
FNWYNMRNCILADEMGLGKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQ    981 - 1050
ASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMILTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEG   1051 - 1120
LKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQKLQAILKPMMLRRL   1121 - 1190
KEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLING   1191 - 1260
AEEKILEEFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRR   1261 - 1330
YPYERIDGRVRGNLRQAAIDRFSKPDSDRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARC   1331 - 1400
HRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGRENATNGVQQLSKKEIEDLLRKGAYG   1401 - 1470
ALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKKAEL   1471 - 1540
DIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVE   1541 - 1610
KNLLVYGWGRWTDILSHGRYKRQLTEQDVETICRTILVYCLNHYKGDENIKSFIWDLITPTADGQTRALV   1611 - 1680
NHSGLSAPVPRGRKGKKVKAQSTQPVVQDADWLASCNPDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQ   1681 - 1750
EVIGDQADKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFKHGYEKYNSMRADPALCFLER   1751 - 1820
VGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRTPFKDEIDEFANSPSEDKEESMEIHATGK   1821 - 1890
HSESNAELGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIIS   1891 - 1960
EKRQKWTRREEADFYRVVSTFGVIFDPVKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCRRVCRMPV   1961 - 2030
KPDDEPPDLSSIIEPITEERASRTLYRIELLRKIREQVLHHPQLGERLKLCQPSLDLPEWWECGRHDRDL   2031 - 2100
LVGAAKHGVSRTDYHILNDPELSFLDAHKNFAQNRGAGNTSSLNPLAVGFVQTPPVISSAHIQDERVLEQ   2101 - 2170
AEGKVEEPENPAAKEKCEGKEEEEETDGSGKESKQECEAEASSVKNELKGVEVGADTGSKSISEKGSEED   2171 - 2240
EEEKLEDDDKSEESSQPEAGAVSRGKNFDEESNASMSTARDETRDGFYMEDGDPSVAQLLHERTFAFSFW   2241 - 2310
PKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLIPGYTPTTVDSPLQKRSFAELSMVGQASISGSEDI   2311 - 2380
TTSPQLSKEDALNLSVPRQRRRRRRKIEIEAERAAKRRNLMEMVAQLRESQVVSENGQEKVVDLSKASRE   2381 - 2450
ATSSTSNFSSLSSKFILPNVSTPVSDAFKTQMELLQAGLSRTPTRHLLNGSLVDGEPPMKRRRGRRKNVE   2451 - 2520
GLDLLFMSHKRTSLSAEDAEVTKAFEEDIETPPTRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPKNKD   2521 - 2590
LVEWLKLHPTYTVDMPSYVPKNADVLFSSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGG   2591 - 2660
AMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAA   2661 - 2730
AAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLPLML   2731 - 2800
PGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDSTSKGEEKGNENEDENKDSEKSTDAVSAADSA   2801 - 2870
NGSVGAATAPAGLPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAAD   2871 - 2940
KAEGGPFKDGETLEGSDAEESLDKTAESSLLEDEIAQGEELDSLDGGDEIENNENDE                2941 - 2997
//

Text Mined References (108)

PMID Year Title