| 11924884 | ASPH | aspartate beta-hydroxylase | ENCODES a protein that exhibits calcium ion binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); calcium ion homeostasis (ortholog); calcium ion transmembrane transport (ortholog); ASSOCIATED WITH Bile Duct Neoplasms (ortholog); cholangiocarcinoma (orthol og); congenital contractural arachnodactyly (ortholog); FOUND IN junctional sarcoplasmic reticulum membrane (ortholog); myofibril (ortholog) | 8 | 57921580 | 58134778 | Bonobo | 50 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12032005 | ASPHD1 | aspartate beta-hydroxylase domain containing 1 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); ASSOCIATED WITH spondylocostal dysostosis 5 (ortholog); FOUND IN membrane (inferred) | | | | Bonobo | 4 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11895135 | ASPHD2 | aspartate beta-hydroxylase domain containing 2 | ENCODES a protein that exhibits dioxygenase activity (inferred); oxidoreductase activity (inferred); FOUND IN membrane (inferred) | 22 | 7491361 | 7505547 | Bonobo | 5 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11798965 | DYNC2H1 | dynein cytoplasmic 2 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cilium assembly (ortholog); coronary vasculature development (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED W ITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN apical part of cell (ortholog); cytoplasmic dynein complex (ortholog) | 11 | 98051788 | 98425676 | Bonobo | 72 | description | gene, protein-coding, MODEL [RefSeq] |
| 11693211 | DYNC2I1 | dynein 2 intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); embryonic skeletal system morphogenesis (inferred); ASSOCIATED WITH asph >yxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN centrosome (inferred); ciliary base (inferred); cilium (inferred) | | | | Bonobo | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 11724168 | TTC21B | tetratricopeptide repeat domain 21B | ENCODES a protein that exhibits chromatin binding (inferred); INVOLVED IN Bergmann glial cell differentiation (ortholog); cerebellar Purkinje cell differentiation (ortholog); cerebellum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ort holog); asphyxiating thoracic dystrophy 1 (ortholog); asphyxiating thoracic dystrophy 4 (ortholog); FOUND IN axoneme (inferred); intraciliary transport particle A (inferred) | 2B | 53140199 | 53220535 | Bonobo | 66 | description | gene, protein-coding, MODEL [RefSeq] |
| 11713650 | WDR19 | WD repeat domain 19 | INVOLVED IN cell morphogenesis (ortholog); cilium assembly (ortholog); digestive system development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); asph style='font-weight:700;'>asphyxiating thoracic dystrophy 5 (ortholog); FOUND IN cilium (inferred); intraciliary transport particle A (inferred); motile cilium (inferred) | 4 | 33511283 | 33616946 | Bonobo | 80 | description | gene, protein-coding, MODEL [RefSeq] |
| 11951123 | DYNC2I2 | dynein 2 intermediate chain 2 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); dynein light chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); intraciliary transport (inferred); ASSOCIATED WITH asphyxiating th oracic dystrophy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | 9 | 99755972 | 99780279 | Bonobo | 42 | description | gene, protein-coding, MODEL [RefSeq] |
| 11807245 | DYNC2LI1 | dynein cytoplasmic 2 light intermediate chain 1 | ENCODES a protein that exhibits dynein heavy chain binding (inferred); INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asph yxiating thoracic dystrophy 1 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasmic microtubule (ortholog) | 2A | 43858368 | 43912262 | Bonobo | 42 | description | gene, protein-coding, MODEL [RefSeq] |
| 12049777 | DYNLT2B | dynein light chain Tctex-type 2B | ENCODES a protein that exhibits dynein intermediate chain binding (inferred); INVOLVED IN cilium assembly (inferred); intraciliary retrograde transport (inferred); microtubule-based movement (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary base (inferred) | 3 | 193636238 | 193665254 | Bonobo | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 11961353 | EVC2 | EvC ciliary complex subunit 2 | INVOLVED IN smoothened signaling pathway (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); Beemer-Langer syndrome (ortholog); FOUND IN ciliary membrane (inf erred); cilium (inferred); nucleus (inferred) | | | | Bonobo | 25 | description | gene, protein-coding, MODEL [RefSeq] |
| 11858246 | IFT140 | intraflagellar transport 140 | INVOLVED IN cilium assembly (ortholog); determination of left/right symmetry (ortholog); embryonic brain development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 ( ortholog); autosomal dominant polycystic kidney disease (ortholog); FOUND IN axoneme (inferred); centriole (inferred); centrosome (inferred) | 16 | 130150 | 232369 | Bonobo | 71 | description | gene, protein-coding, MODEL [RefSeq] |
| 11837348 | IFT172 | intraflagellar transport 172 | ENCODES a protein that exhibits transcription factor binding (ortholog); INVOLVED IN bone development (ortholog); brain development (ortholog); cilium assembly (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxiating thoracic dystroph y (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); atrioventricular septal defect (ortholog); FOUND IN axoneme (inferred); ciliary basal body (inferred); cilium (inferred) | 2A | 27448139 | 27492302 | Bonobo | 82 | description | gene, protein-coding, MODEL [RefSeq] |
| 11705017 | IFT80 | intraflagellar transport 80 | INVOLVED IN apoptotic process (ortholog); articular cartilage development (ortholog); bone development (ortholog); ASSOCIATED WITH Asphyxia (ortholog); asphyxiating thoracic dystrophy (ortholog); asph ;'>asphyxiating thoracic dystrophy 2 (ortholog); FOUND IN 9+0 non-motile cilium (inferred); axoneme (inferred); centrosome (inferred) | 3 | 157279076 | 157421478 | Bonobo | 85 | description | gene, protein-coding, MODEL [RefSeq] |
| 11901808 | LBR | lamin B receptor | ENCODES a protein that exhibits nuclear localization sequence binding (ortholog); protein-folding chaperone binding (ortholog); INVOLVED IN cholesterol biosynthetic process (inferred); cholesterol biosynthetic process via desmosterol (inferred); cholesterol metabolic process (inferred); PARTICIPATES IN cholesterol biosynthetic pathway; histone modification pathway; ASSOCIATED WITH Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia (ortholog); asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); FOUND IN nuclear envelope (ortholog); nuclear pore (ortholog) | 1 | 200865602 | 200892199 | Bonobo | 80 | description | gene, protein-coding, MODEL [RefSeq] |
| 11812286 | RAB34 | RAB34, member RAS oncogene family | ENCODES a protein that exhibits G protein activity (ortholog); GTP-dependent protein binding (ortholog); guanyl nucleotide binding (ortholog); INVOLVED IN antigen processing and presentation (ortholog); cellular response to glucose stimulus (ortholog); cilium assembly (ortholog); ASSOCIATED WITH ... (more) an style='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); asphyxiating thoracic dystrophy 1 (ortholog); orofaciodigital syndrome XX (ortholog); FOUND IN centrosome (ortholog); early endosome (ortholog); Golgi cisterna (ortholog) | 17 | 28057077 | 28061234 | Bonobo | 57 | description | gene, protein-coding, MODEL [RefSeq] |
| 11739598 | B9D1 | B9 domain containing 1 | ENCODES a protein that exhibits hedgehog receptor activity (inferred); INVOLVED IN camera-type eye development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopath y (ortholog); Experimental Liver Cirrhosis (ortholog); FOUND IN centrosome (inferred); ciliary basal body (inferred); ciliary transition zone (inferred) | 17 | 31735065 | 31779454 | Bonobo | 45 | description | gene, protein-coding, MODEL [RefSeq] |
| 11986394 | BAG3 | BAG cochaperone 3 | ENCODES a protein that exhibits protein-containing complex binding (ortholog); INVOLVED IN autophagosome assembly (ortholog); cellular response to mechanical stimulus (ortholog); chaperone-mediated autophagy (ortholog); ASSOCIATED WITH arrhythmogenic right ventricular cardiomyopathy (ortholog); ... (more) n style='font-weight:700;'>asphyxiating thoracic dystrophy 3 (ortholog); atrial fibrillation (ortholog); FOUND IN stress fiber (ortholog) | 10 | 116221747 | 116248692 | Bonobo | 104 | description | gene, protein-coding, MODEL [RefSeq] |
| 11755790 | C2CD3 | C2 domain containing 3 centriole elongation regulator | INVOLVED IN brain development (ortholog); cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); gastrointestinal stromal tumor (ortholog); genetic disease (ortholog); FOUND IN centrosome (ortholog) | 11 | 69085434 | 69244791 | Bonobo | 43 | description | gene, protein-coding, MODEL [RefSeq] |
| 12035726 | CEP120 | centrosomal protein 120 | INVOLVED IN astral microtubule organization (ortholog); cell population proliferation (ortholog); cerebral cortex development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); familial erythrocytosis 2 (orth olog); FOUND IN centriole (inferred); centrosome (inferred); microtubule organizing center (inferred) | 5 | 118736158 | 118815194 | Bonobo | 37 | description | gene, protein-coding, MODEL [RefSeq] |
| 11872431 | CILK1 | ciliogenesis associated kinase 1 | ENCODES a protein that exhibits ATP binding (inferred); kinase activity (inferred); magnesium ion binding (inferred); INVOLVED IN protein phosphorylation (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); coloboma (ortholog); cranioectoderma l dysplasia (ortholog); FOUND IN cytoplasm (ortholog) | 6 | 52556272 | 52617199 | Bonobo | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 11754867 | DYNC1H1 | dynein cytoplasmic 1 heavy chain 1 | ENCODES a protein that exhibits ATP binding (inferred); dynein intermediate chain binding (inferred); dynein light intermediate chain binding (inferred); INVOLVED IN cellular response to 3,3',5-triiodo-L-thyronine (ortholog); cellular response to nerve growth factor stimulus (ortholog); spermatid de velopment (ortholog); PARTICIPATES IN mitochondria transport pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); amyotrophic lateral sclerosis (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); FOUND IN axon (ortholog); manchette (ortholog); neuronal cell body (ortholog) | 14 | 82584876 | 82670750 | Bonobo | 107 | description | gene, protein-coding, MODEL [RefSeq] |
| 11720739 | ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | ENCODES a protein that exhibits 3'-5' DNA helicase activity (inferred); ATP binding (inferred); ATP hydrolysis activity (inferred); INVOLVED IN embryonic organ development (ortholog); response to hypoxia (ortholog); transcription elongation by RNA polymerase I (ortholog); PARTICIPATES IN altered nuc leotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Arsenic Poisoning (ortholog); asphyxia neonatorum (ortholog); FOUND IN transcription factor TFIIH core complex (ortholog) | 2B | 32983492 | 33020492 | Bonobo | 86 | description | gene, protein-coding, MODEL [RefSeq] |
| 11837084 | FAM98C | family with sequence similarity 98 member C | ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); autism spectrum disorder (ortholog); FOUND IN tRNA-splicing ligase complex (inferred) | 19 | 35497144 | 35503168 | Bonobo | 4 | description | gene, protein-coding, MODEL [RefSeq] |
| 11926766 | FLVCR1 | FLVCR choline and heme transporter 1 | ENCODES a protein that exhibits heme B transmembrane transporter activity (ortholog); INVOLVED IN blood vessel development (ortholog); embryonic digit morphogenesis (ortholog); embryonic skeletal system morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thor acic dystrophy (ortholog); Diamond-Blackfan anemia (ortholog); fundus dystrophy (ortholog); FOUND IN mitochondrial inner membrane (ortholog); mitochondrial membrane (ortholog) | 1 | 188425697 | 188466721 | Bonobo | 58 | description | gene, protein-coding, MODEL [RefSeq] |
| 11727136 | FUZ | fuzzy planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (ortholog); INVOLVED IN anterior/posterior pattern specification (ortholog); aorta development (ortholog); cardiac septum development (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (orthol og); Desbuquois dysplasia (ortholog); neural tube defect (ortholog); FOUND IN cytoskeleton (inferred) | 19 | 46819833 | 46826235 | Bonobo | 47 | description | gene, protein-coding, MODEL [RefSeq] |
| 11694955 | GRK2 | G protein-coupled receptor kinase 2 | ENCODES a protein that exhibits beta-adrenergic receptor kinase activity (ortholog); delta-type opioid receptor binding (ortholog); G protein-coupled receptor binding (ortholog); INVOLVED IN cellular response to catecholamine stimulus (ortholog); cellular response to chemokine (ortholog); cellular r esponse to epidermal growth factor stimulus (ortholog); PARTICIPATES IN acetylcholine signaling pathway via muscarinic acetylcholine receptor; angiotensin II signaling pathway via AT1 receptor; calcium signaling pathway via the calcium-sensing receptor; ASSOCIATED WITH allergic contact dermatitis (ortholog); asphyxiating thoracic dystrophy (ortholog); bacterial pneumonia (ortholog); FOUND IN apical plasma membrane (ortholog); axon terminus (ortholog); basolateral plasma membrane (ortholog) | 11 | 62624647 | 62644846 | Bonobo | 192 | description | gene, protein-coding, MODEL [RefSeq] |
| 12005662 | HTRA2 | HtrA serine peptidase 2 | ENCODES a protein that exhibits serine-type peptidase activity (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); forebrain development (ortholog); PARTICIPATES IN intrinsic apoptotic pathway; ASSOCIATED WITH 3-methylglutaconic aciduria type 8 (ortholog) ; Alzheimer's disease (ortholog); asphyxia neonatorum (ortholog); FOUND IN CD40 receptor complex (inferred); chromatin (inferred); cytoplasmic side of plasma membrane (inferred) | 2A | 74596020 | 74599790 | Bonobo | 126 | description | gene, protein-coding, MODEL [RefSeq] |
| 11765337 | IFT43 | intraflagellar transport 43 | INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); intraciliary retrograde transport (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog) ; FOUND IN centriole (inferred); cilium (inferred); intercellular bridge (inferred) | 14 | 56544333 | 56642312 | Bonobo | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 11975732 | IFT52 | intraflagellar transport 52 | INVOLVED IN determination of left/right symmetry (ortholog); dorsal/ventral pattern formation (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); gastrointestinal stro mal tumor (ortholog); FOUND IN centriole (inferred); centrosome (inferred); ciliary basal body (inferred) | 20 | 39929523 | 39986072 | Bonobo | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 12006693 | IFT74 | intraflagellar transport 74 | ENCODES a protein that exhibits beta-tubulin binding (inferred); chromatin binding (inferred); INVOLVED IN determination of left/right symmetry (ortholog); epidermis development (ortholog); heart development (ortholog); ASSOCIATED WITH asphyxiating thoracic dyst rophy (ortholog); autism spectrum disorder (ortholog); Bardet-Biedl syndrome (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); ciliary basal body (inferred) | 9 | 26802459 | 26912292 | Bonobo | 54 | description | gene, protein-coding, MODEL [RefSeq] |
| 11866989 | IFT81 | intraflagellar transport 81 | ENCODES a protein that exhibits tubulin binding (inferred); INVOLVED IN cell differentiation (inferred); cell projection organization (inferred); cilium assembly (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); ciliopathy (ortholog); Desbu quois dysplasia (ortholog); FOUND IN centriole (inferred); centrosome (inferred); ciliary basal body (inferred) | 12 | 107659663 | 107794066 | Bonobo | 49 | description | gene, protein-coding, MODEL [RefSeq] |
| 11946870 | IFT88 | intraflagellar transport 88 | ENCODES a protein that exhibits kinesin binding (inferred); INVOLVED IN animal organ morphogenesis (ortholog); anterior/posterior pattern specification (ortholog); brain development (ortholog); PARTICIPATES IN Hedgehog signaling pathway; ASSOCIATED WITH asphyxia ting thoracic dystrophy (ortholog); autosomal recessive polycystic kidney disease (ortholog); basal cell carcinoma (ortholog); FOUND IN acrosomal membrane (ortholog); axonemal basal plate (ortholog); axoneme (ortholog) | 13 | 1893102 | 2017771 | Bonobo | 130 | description | gene, protein-coding, MODEL [RefSeq] |
| 11901193 | INTU | inturned planar cell polarity protein | ENCODES a protein that exhibits phosphatidylinositol binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic digit morphogenesis (ortholog); hair follicle morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuqu ois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cell surface (inferred); centriole (inferred); ciliary basal body (inferred) | 4 | 119793245 | 119890949 | Bonobo | 50 | description | gene, protein-coding, MODEL [RefSeq] |
| 11679113 | JUN | Jun proto-oncogene, AP-1 transcription factor subunit | ENCODES a protein that exhibits cAMP response element binding (ortholog); chromatin binding (ortholog); DNA binding (ortholog); INVOLVED IN angiogenesis (ortholog); axon regeneration (ortholog); cellular response to anisomycin (ortholog); PARTICIPATES IN adenosine signaling pathway; endothelin signa ling pathway; fibroblast growth factor signaling pathway; ASSOCIATED WITH Alcohol-Related Disorders (ortholog); angiosarcoma (ortholog); Asphyxia (ortholog); FOUND IN chromatin (ortholog); euchromatin (ortholog); nucleoplasm (ortholog) | 1 | 58042794 | 58045536 | Bonobo | 247 | description | gene, protein-coding, MODEL [RefSeq] |
| 12008568 | KIAA0586 | KIAA0586 ortholog | INVOLVED IN cilium assembly (ortholog); regulation of establishment of protein localization (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); cerebellar hypoplasia (ortholog); cone-rod dystrophy (ortholog); FOUND IN centrosome (ortholog) | 14 | 39019518 | 39139460 | Bonobo | 28 | description | gene, protein-coding, MODEL [RefSeq] |
| 11849999 | KIAA0753 | KIAA0753 ortholog | INVOLVED IN centriole replication (inferred); cilium assembly (inferred); cytosolic ciliogenesis (inferred); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN centriolar satellite (i nferred); centrosome (inferred); microtubule organizing center (inferred) | 17 | 6615903 | 6678233 | Bonobo | 24 | description | gene, protein-coding, MODEL [RefSeq] |
| 11744006 | KIF24 | kinesin family member 24 | ENCODES a protein that exhibits ATP binding (inferred); cytoskeletal motor activity (inferred); identical protein binding (inferred); INVOLVED IN cell projection organization (inferred); cilium assembly (inferred); microtubule depolymerization (inferred); ASSOCIATED WITH asph ;'>asphyxiating thoracic dystrophy 3 (ortholog); neuropathy (ortholog); FOUND IN centriole (inferred); centrosome (inferred); cytoskeleton (inferred) | 9 | 34088760 | 34165306 | Bonobo | 34 | description | gene, protein-coding, MODEL [RefSeq] |
| 12021678 | MAP2 | microtubule associated protein 2 | ENCODES a protein that exhibits actin binding (ortholog); protein kinase binding (ortholog); SH2 domain binding (ortholog); INVOLVED IN axonogenesis (ortholog); dendrite development (ortholog); establishment of cell polarity (ortholog); ASSOCIATED WITH Alzheimer's disease (ortholog); arteriovenous m alformation (ortholog); asphyxia neonatorum (ortholog); FOUND IN actin cytoskeleton (ortholog); apical dendrite (ortholog); apical distal dendrite (ortholog) | 2B | 96681268 | 96991650 | Bonobo | 109 | description | gene, protein-coding, MODEL [RefSeq] |
| 11901332 | NEK1 | NIMA related kinase 1 | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); INVOLVED IN DNA damage response (ortholog); kidney development (ortholog); multicellular organism growth (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); amyotrophic lateral sclerosis type 24 (ortholog); asph yle='font-weight:700;'>asphyxiating thoracic dystrophy (ortholog); FOUND IN centriolar satellite (inferred); centrosome (inferred); cytoplasm (inferred) | 4 | 161618181 | 161830332 | Bonobo | 51 | description | gene, protein-coding, MODEL [RefSeq] |
| 11670937 | PDIA3 | protein disulfide isomerase family A member 3 | ENCODES a protein that exhibits identical protein binding (ortholog); lncRNA binding (ortholog); MHC class I protein binding (ortholog); INVOLVED IN cellular response to interleukin-7 (ortholog); cellular response to nonylphenol (ortholog); cellular response to transforming growth factor beta stimul us (ortholog); ASSOCIATED WITH Acute Coronary Syndrome (ortholog); asphyxia neonatorum (ortholog); autoimmune hepatitis (ortholog); FOUND IN acrosomal vesicle (ortholog); apical plasma membrane (ortholog); cell surface (ortholog) | 15 | 22706520 | 22731672 | Bonobo | 85 | description | gene, protein-coding, MODEL [RefSeq] |
| 11941603 | POLG | DNA polymerase gamma, catalytic subunit | ENCODES a protein that exhibits DNA-directed DNA polymerase activity (ortholog); exonuclease activity (ortholog); INVOLVED IN base-excision repair, gap-filling (ortholog); cellular response to glucose stimulus (ortholog); determination of adult lifespan (ortholog); ASSOCIATED WITH Alpers-Huttenloche r syndrome (ortholog); asphyxiating thoracic dystrophy 3 (ortholog); Ataxia (ortholog); FOUND IN gamma DNA polymerase complex (ortholog); terminal bouton (ortholog) | 15 | 68008214 | 68028241 | Bonobo | 209 | description | gene, protein-coding, MODEL [RefSeq] |
| 11717774 | PSEN2 | presenilin 2 | ENCODES a protein that exhibits aspartic endopeptidase activity, intramembrane cleaving (inferred); aspartic-type endopeptidase activity (inferred); endopeptidase activity (inferred); INVOLVED IN amyloid-beta metabolic process (ortholog); brain morphogenesis (ortholog); calcium ion transport (orthol og); PARTICIPATES IN altered Notch signaling pathway involving the macromolecules modifying the main players; Alzheimer's disease pathway; Notch signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Alzheimer's disease 4 (ortholog); asphyxia neonatorum (ortholog); FOUND IN ciliary basal body (ortholog); cytosol (ortholog); early endosome (ortholog) | 1 | 202328987 | 202354440 | Bonobo | 132 | description | gene, protein-coding, MODEL [RefSeq] |
| 12037991 | SCN1B | sodium voltage-gated channel beta subunit 1 | ENCODES a protein that exhibits sodium channel regulator activity (ortholog); INVOLVED IN axon guidance (ortholog); corticospinal neuron axon guidance (ortholog); locomotion (ortholog); PARTICIPATES IN alfentanil pharmacodynamics pathway; bupivacaine pharmacodynamics pathway; buprenorphine pharmacod ynamics pathway; ASSOCIATED WITH asphyxiating thoracic dystrophy 3 (ortholog); benign epilepsy with centrotemporal spikes (ortholog); Brugada syndrome (ortholog); FOUND IN plasma membrane (ortholog); voltage-gated sodium channel complex (ortholog) | 19 | 31974499 | 31984488 | Bonobo | 127 | description | gene, protein-coding, MODEL [RefSeq] |
| 11720241 | SLTM | SAFB like transcription modulator | ENCODES a protein that exhibits nucleic acid binding (inferred); RNA binding (inferred); sequence-specific DNA binding (inferred); INVOLVED IN DNA-templated transcription (inferred); regulation of mRNA processing (inferred); regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WIT H asphyxiating thoracic dystrophy (ortholog); FOUND IN nuclear body (inferred); nucleoplasm (inferred); nucleus (inferred) | 15 | 37848629 | 37903221 | Bonobo | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 11933622 | SMARCAD1 | SNF2 related chromatin remodeling ATPase with DExD box 1 | ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent chromatin remodeler activity (inferred); ATP-dependent histone chaperone activity (inferred); INVOLVED IN chromatin organization (inferred); chromatin remodeling (inferred); chromosome separation (inferred); ASSOCIATED WITH aderma toglyphia (ortholog); asphyxiating thoracic dystrophy (ortholog); BASAN syndrome (ortholog); FOUND IN chromosome (inferred); heterochromatin (inferred); nuclear replication fork (inferred) | 4 | 86567722 | 86651527 | Bonobo | 39 | description | gene, protein-coding, MODEL [RefSeq] |
| 11945563 | SOX4 | SRY-box transcription factor 4 | ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN ascending aorta morphogenesis (ortholog); atrial septum primum morphogenesis (ortholog); card iac right ventricle morphogenesis (ortholog); ASSOCIATED WITH adenoid cystic carcinoma (ortholog); Asphyxia (ortholog); basal cell carcinoma (ortholog); FOUND IN cytoplasm (ortholog); nucleoplasm (ortholog); nucleus (ortholog) | 6 | 21422846 | 21427779 | Bonobo | 91 | description | gene, protein-coding, MODEL [RefSeq] |
| 11687870 | TRAF3IP1 | TRAF3 interacting protein 1 | ENCODES a protein that exhibits microtubule binding (inferred); INVOLVED IN cilium assembly (ortholog); embryonic camera-type eye development (ortholog); embryonic digit morphogenesis (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); Desbuq uois dysplasia (ortholog); Ellis-Van Creveld syndrome (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | 2B | 125558537 | 125637733 | Bonobo | 60 | description | gene, protein-coding, MODEL [RefSeq] |
| 11780914 | WDR35 | WD repeat domain 35 | INVOLVED IN cellular response to glucose stimulus (ortholog); cellular response to leukemia inhibitory factor (ortholog); cellular response to tumor necrosis factor (ortholog); ASSOCIATED WITH asphyxiating thoracic dystrophy (ortholog); connective tissue disease (ortholog); cranioectodermal dysplasia (ortholog); FOUND IN axoneme (inferred); centrosome (inferred); ciliary basal body (inferred) | 2A | 19896498 | 19977295 | Bonobo | 55 | description | gene, protein-coding, MODEL [RefSeq] |
| 11791631 | XRCC1 | X-ray repair cross complementing 1 | ENCODES a protein that exhibits 3' overhang single-stranded DNA endodeoxyribonuclease activity (inferred); ADP-D-ribose modification-dependent protein binding (inferred); damaged DNA binding (inferred); INVOLVED IN base-excision repair (ortholog); DNA damage response (ortholog); DNA repair (ortholog ); PARTICIPATES IN base excision repair pathway; nucleotide excision repair pathway; ASSOCIATED WITH 5 Alpha Fluorouracil Toxicity (ortholog); acute lymphoblastic leukemia (ortholog); asphyxia neonatorum (ortholog); FOUND IN chromatin (inferred); chromosome (inferred); chromosome, telomeric region (inferred) | 19 | 40485052 | 40522188 | Bonobo | 201 | description | gene, protein-coding, MODEL [RefSeq] |